HAEM5:Systemic EBV-positive T-cell lymphoma of childhood: Difference between revisions

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Haematolymphoid Tumours (WHO Classification, 5th ed.)

Primary Author(s)*

Karin Miller, MD

WHO Classification of Disease

Structure	Disease
Book	Haematolymphoid Tumours (5th ed.)
Category	T-cell and NK-cell lymphoid proliferations and lymphomas
Family	Mature T-cell and NK-cell neoplasms
Type	EBV-positive T-cell and NK-cell lymphoid proliferations and lymphomas of childhood
Subtype(s)	Systemic EBV-positive T-cell lymphoma of childhood

Related Terminology


Acceptable	N/A
Not Recommended	Fulminant EBV-positive T-cell lymphoproliferative disorder of childhood; sporadic fatal infectious mononucleosis; severe chronic active EBV (CAEBV) infection; severe CAEBV with monoclonal EBV-positive T-cell proliferation; fatal EBV-associated haemophagocytic syndrome; fulminant haemophagocytic syndrome

Gene Rearrangements

Monoclonal T-cell receptor gene rearrangements in most cases.^[1]^[2] T-cell clonality can also be detected in EBV-associated HLH and other EBV-associated disorders.^[3]

Driver Gene	Fusion(s) and Common Partner Genes	Molecular Pathogenesis	Typical Chromosomal Alteration(s)	Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
T-cell Receptor (TCR) Gene Rearrangements	N/A	V(D)J rearrangement of T-cell receptor loci^[4]	N/A	Common^[1]	D	Yes	The WHO 5th edition notes that diagnosis of SEBVTCL of childhood "may be supported by clonal TR gene rearrangements," and clonal TR gene rearrangements are included as desirable diagnostic criteria.^[5]^[6]

Individual Region Genomic Gain/Loss/LOH

Cytogenetic abnormalities found in 30-35% of cases of SEBVTCL of childhood. The WHO 5th edition and International Consensus Classification note that cytogenetic abnormalities favor a diagnosis of SEBVTCL over EBV-positive nonfamilial HLH.^[7] ^[5]^[6]^[3]
No observable patterns in the cytogenetic/karyotypic abnormalities to-date; cytogenetic abnormalities associated with worse prognosis^[2]^[8]^[9]^[10]

Chr #	Gain, Loss, Amp, LOH	Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]	Relevant Gene(s)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A

Characteristic Chromosomal or Other Global Mutational Patterns

N/A

Chromosomal Pattern	Molecular Pathogenesis	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A

Gene Mutations (SNV/INDELS)

Somatic mutations have been reported; however, consistent/recurrent mutations are not well-described.^[3]^[11]^[12]
- FYN mutations have been reported in two cases ^[3]^[12]
- Mutations in KMT2D, MFHAS1, STAT3, EP300, ITPKB, DDX3X, NOTCH1, NOTCH2, and TET2 (amongst others) have also been reported^[13]

Gene	Genetic Alteration	Tumor Suppressor Gene, Oncogene, Other	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

N/A

Genes and Main Pathways Involved

N/A

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
N/A

Genetic Diagnostic Testing Methods

In the WHO 5th edition, clonal TCR-gene rearrangements are included as desirable diagnostic criteria for the diagnosis of SEBVTCL of childhood^[5]^[6]

Differential Diagnosis with EBV-positive HLH is challenging
- TCR-gene rearrangements and aberrant T-cell phenotypes can be seen in both SEBVTCL of childhood and EBV-positive HLH
- The WHO 5th edition and International Consensus Classification note that cytogenetic abnormalities favor a diagnosis of SEBVTCL over EBV-positive nonfamilial HLH.^[5]^[7]
- Primary/familial EBV-positive HLH can be excluded by family history and genetic analysis^[3]
TCR-gene rearrangements can be detected via PCR or NGS methods. Cytogenetic abnormalities can be detected with karyotype and chromosome microarray (CMA).

Familial Forms

N/A

Additional Information

SEBVTCL of childhood shows an increased prevalence in populations from Asia and Latin America, suggesting a potential genetic etiology. However, no specific genetic abnormalities have been detected^[14]
Typically occurs following primary acute EBV infection; though, it is rarely reported in patients with a history of systemic chronic active EBV (CAEBV)^[3]
Harbors type A EBV with the wildtype or 30bp-deleted product of LMP1^[1]^[15]^[16]

Links

HAEM4:EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of Childhood

References

↑ ^1.0 ^1.1 ^1.2 Quintanilla-Martinez, L.; et al. (2000-07-15). "Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome". Blood. 96 (2): 443–451. ISSN 0006-4971. PMID 10887104.
↑ ^2.0 ^2.1 Coffey, Amy M.; et al. (2019-08). "A clinicopathologic study of the spectrum of systemic forms of EBV-associated T-cell lymphoproliferative disorders of childhood: A single tertiary care pediatric institution experience in North America". Pediatric Blood & Cancer. 66 (8): e27798. doi:10.1002/pbc.27798. ISSN 1545-5017. PMID 31099136. Check date values in: |date= (help)
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 Dojcinov, Stefan D.; et al. (2023-01-04). "How I Diagnose EBV-Positive B- and T-Cell Lymphoproliferative Disorders". American Journal of Clinical Pathology. 159 (1): 14–33. doi:10.1093/ajcp/aqac105. ISSN 1943-7722. PMID 36214507 Check |pmid= value (help).
↑ van Dongen, J. J. M.; et al. (2003-12). "Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936". Leukemia. 17 (12): 2257–2317. doi:10.1038/sj.leu.2403202. ISSN 0887-6924. PMID 14671650. Check date values in: |date= (help)
↑ ^5.0 ^5.1 ^5.2 ^5.3 The WHO Classification of Tumours Editorial Board, ed. Haematolymphoid Tumours: Who Classification of Tumours. 5th ed. International Agency for Research on Cancer; 2024.
↑ ^6.0 ^6.1 ^6.2 "BlueBooksOnline".
↑ ^7.0 ^7.1 Arber DA, Borowitz MJ, Cook JR, et al. The International Consensus Classification of Myeloid and Lymphoid Neoplasms.; 2025.
↑ Hue, Susan Swee-Shan; et al. (2020-01). "Epstein-Barr virus-associated T- and NK-cell lymphoproliferative diseases: an update and diagnostic approach". Pathology. 52 (1): 111–127. doi:10.1016/j.pathol.2019.09.011. ISSN 1465-3931. PMID 31767131. Check date values in: |date= (help)
↑ Smith, Megan C.; et al. (2014). "The ambiguous boundary between EBV-related hemophagocytic lymphohistiocytosis and systemic EBV-driven T cell lymphoproliferative disorder". International Journal of Clinical and Experimental Pathology. 7 (9): 5738–5749. ISSN 1936-2625. PMC 4203186. PMID 25337215.
↑ Chen, J. S.; et al. (1997-09). "Clonal karyotype abnormalities in EBV-associated hemophagocytic syndrome". Haematologica. 82 (5): 572–576. ISSN 0390-6078. PMID 9407723. Check date values in: |date= (help)
↑ Saleem, Atif; et al. (2020-03-01). "Novel IRF8 and PD-L1 molecular aberrations in systemic EBV-positive T-cell lymphoma of childhood". Human Pathology: Case Reports. 19: 200356. doi:10.1016/j.ehpc.2020.200356. ISSN 2214-3300.
↑ ^12.0 ^12.1 Asmussen, Anders; et al. (2024-01). "Severe lympho-depletion, abrogated thymopoiesis and systemic EBV positive T-cell lymphoma of childhood, a case". Leukemia & Lymphoma. 65 (1): 118–122. doi:10.1080/10428194.2023.2264425. ISSN 1029-2403. PMID 37871127 Check |pmid= value (help). Check date values in: |date= (help)
↑ Gao, Li-Min; et al. (2019). "Somatic mutations in KMT2D and TET2 associated with worse prognosis in Epstein-Barr virus-associated T or natural killer-cell lymphoproliferative disorders". Cancer Biology & Therapy. 20 (10): 1319–1327. doi:10.1080/15384047.2019.1638670. ISSN 1555-8576. PMC 6783120. PMID 31311407.
↑ Montes-Mojarro, Ivonne A.; et al. (2020-01). "Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis". Seminars in Diagnostic Pathology. 37 (1): 32–46. doi:10.1053/j.semdp.2019.12.004. ISSN 0740-2570. PMID 31889602. Check date values in: |date= (help)
↑ Kasahara, Y.; et al. (2001-09-15). "Differential cellular targets of Epstein-Barr virus (EBV) infection between acute EBV-associated hemophagocytic lymphohistiocytosis and chronic active EBV infection". Blood. 98 (6): 1882–1888. doi:10.1182/blood.v98.6.1882. ISSN 0006-4971. PMID 11535525.
↑ Suzuki, Keiko; et al. (2004-05). "Clinicopathological states of Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorders (severe chronic active EBV infection) of children and young adults". International Journal of Oncology. 24 (5): 1165–1174. ISSN 1019-6439. PMID 15067338. Check date values in: |date= (help)

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s): Lisa A. Lansdon, PhD & Linda D. Cooley, MD, MBA

*Citation of this Page: “Systemic EBV-positive T-cell lymphoma of childhood”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 11/20/2025, https://ccga.io/index.php/HAEM5:Systemic_EBV-positive_T-cell_lymphoma_of_childhood.

[:1-1] 1.0 ^1.1 ^1.2 Quintanilla-Martinez, L.; et al. (2000-07-15). "Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome". Blood. 96 (2): 443–451. ISSN 0006-4971. PMID 10887104.

[:7-2] 2.0 ^2.1 Coffey, Amy M.; et al. (2019-08). "A clinicopathologic study of the spectrum of systemic forms of EBV-associated T-cell lymphoproliferative disorders of childhood: A single tertiary care pediatric institution experience in North America". Pediatric Blood & Cancer. 66 (8): e27798. doi:10.1002/pbc.27798. ISSN 1545-5017. PMID 31099136. Check date values in: |date= (help)

[:10-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 Dojcinov, Stefan D.; et al. (2023-01-04). "How I Diagnose EBV-Positive B- and T-Cell Lymphoproliferative Disorders". American Journal of Clinical Pathology. 159 (1): 14–33. doi:10.1093/ajcp/aqac105. ISSN 1943-7722. PMID 36214507 Check |pmid= value (help).

[4] van Dongen, J. J. M.; et al. (2003-12). "Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936". Leukemia. 17 (12): 2257–2317. doi:10.1038/sj.leu.2403202. ISSN 0887-6924. PMID 14671650. Check date values in: |date= (help)

[:3-5] 5.0 ^5.1 ^5.2 ^5.3 The WHO Classification of Tumours Editorial Board, ed. Haematolymphoid Tumours: Who Classification of Tumours. 5th ed. International Agency for Research on Cancer; 2024.

[:6-6] 6.0 ^6.1 ^6.2 "BlueBooksOnline".

[:0-7] 7.0 ^7.1 Arber DA, Borowitz MJ, Cook JR, et al. The International Consensus Classification of Myeloid and Lymphoid Neoplasms.; 2025.

[:5-8] Hue, Susan Swee-Shan; et al. (2020-01). "Epstein-Barr virus-associated T- and NK-cell lymphoproliferative diseases: an update and diagnostic approach". Pathology. 52 (1): 111–127. doi:10.1016/j.pathol.2019.09.011. ISSN 1465-3931. PMID 31767131. Check date values in: |date= (help)

[:9-9] Smith, Megan C.; et al. (2014). "The ambiguous boundary between EBV-related hemophagocytic lymphohistiocytosis and systemic EBV-driven T cell lymphoproliferative disorder". International Journal of Clinical and Experimental Pathology. 7 (9): 5738–5749. ISSN 1936-2625. PMC 4203186. PMID 25337215.

[10] Chen, J. S.; et al. (1997-09). "Clonal karyotype abnormalities in EBV-associated hemophagocytic syndrome". Haematologica. 82 (5): 572–576. ISSN 0390-6078. PMID 9407723. Check date values in: |date= (help)

[11] Saleem, Atif; et al. (2020-03-01). "Novel IRF8 and PD-L1 molecular aberrations in systemic EBV-positive T-cell lymphoma of childhood". Human Pathology: Case Reports. 19: 200356. doi:10.1016/j.ehpc.2020.200356. ISSN 2214-3300.

[:2-12] 12.0 ^12.1 Asmussen, Anders; et al. (2024-01). "Severe lympho-depletion, abrogated thymopoiesis and systemic EBV positive T-cell lymphoma of childhood, a case". Leukemia & Lymphoma. 65 (1): 118–122. doi:10.1080/10428194.2023.2264425. ISSN 1029-2403. PMID 37871127 Check |pmid= value (help). Check date values in: |date= (help)

[13] Gao, Li-Min; et al. (2019). "Somatic mutations in KMT2D and TET2 associated with worse prognosis in Epstein-Barr virus-associated T or natural killer-cell lymphoproliferative disorders". Cancer Biology & Therapy. 20 (10): 1319–1327. doi:10.1080/15384047.2019.1638670. ISSN 1555-8576. PMC 6783120. PMID 31311407.

[14] Montes-Mojarro, Ivonne A.; et al. (2020-01). "Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis". Seminars in Diagnostic Pathology. 37 (1): 32–46. doi:10.1053/j.semdp.2019.12.004. ISSN 0740-2570. PMID 31889602. Check date values in: |date= (help)

[:8-15] Kasahara, Y.; et al. (2001-09-15). "Differential cellular targets of Epstein-Barr virus (EBV) infection between acute EBV-associated hemophagocytic lymphohistiocytosis and chronic active EBV infection". Blood. 98 (6): 1882–1888. doi:10.1182/blood.v98.6.1882. ISSN 0006-4971. PMID 11535525.

[16] Suzuki, Keiko; et al. (2004-05). "Clinicopathological states of Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorders (severe chronic active EBV infection) of children and young adults". International Journal of Oncology. 24 (5): 1165–1174. ISSN 1019-6439. PMID 15067338. Check date values in: |date= (help)

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[4]

[5]

[6]

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HAEM5:Systemic EBV-positive T-cell lymphoma of childhood: Difference between revisions

Latest revision as of 12:46, 20 November 2025

Contents

Primary Author(s)*

WHO Classification of Disease

Related Terminology

Gene Rearrangements

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal or Other Global Mutational Patterns

Gene Mutations (SNV/INDELS)

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

Links

References

Notes

Navigation menu

@@ Line 1: / Line 1: @@
 {{DISPLAYTITLE:Systemic EBV-positive T-cell lymphoma of childhood}}
 [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
-{{Under Construction}}
-<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Systemic EBV-Positive T-cell Lymphoma of Childhood]].
-}}</blockquote>
-<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)</span>
 ==Primary Author(s)*==
@@ Line 46: / Line 39: @@
 ==Gene Rearrangements==
+Monoclonal T-cell receptor gene rearrangements in most cases.<ref name=":1">{{Cite journal|last=Quintanilla-Martinez|first=L.|last2=Kumar|first2=S.|last3=Fend|first3=F.|last4=Reyes|first4=E.|last5=Teruya-Feldstein|first5=J.|last6=Kingma|first6=D. W.|last7=Sorbara|first7=L.|last8=Raffeld|first8=M.|last9=Straus|first9=S. E.|date=2000-07-15|title=Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/10887104|journal=Blood|volume=96|issue=2|pages=443–451|issn=0006-4971|pmid=10887104}}</ref><ref name=":7">{{Cite journal|last=Coffey|first=Amy M.|last2=Lewis|first2=Annisa|last3=Marcogliese|first3=Andrea N.|last4=Elghetany|first4=M. Tarek|last5=Punia|first5=Jyotinder N.|last6=Chang|first6=Chung-Che|last7=Allen|first7=Carl E.|last8=McClain|first8=Kenneth L.|last9=Gaikwad|first9=Amos S.|date=2019-08|title=A clinicopathologic study of the spectrum of systemic forms of EBV-associated T-cell lymphoproliferative disorders of childhood: A single tertiary care pediatric institution experience in North America|url=https://pubmed.ncbi.nlm.nih.gov/31099136|journal=Pediatric Blood & Cancer|volume=66|issue=8|pages=e27798|doi=10.1002/pbc.27798|issn=1545-5017|pmid=31099136}}</ref> T-cell clonality can also be detected in EBV-associated HLH and other EBV-associated disorders.<ref name=":10">{{Cite journal|last=Dojcinov|first=Stefan D.|last2=Quintanilla-Martinez|first2=Leticia|date=2023-01-04|title=How I Diagnose EBV-Positive B- and T-Cell Lymphoproliferative Disorders|url=https://pubmed.ncbi.nlm.nih.gov/36214507|journal=American Journal of Clinical Pathology|volume=159|issue=1|pages=14–33|doi=10.1093/ajcp/aqac105|issn=1943-7722|pmid=36214507}}</ref>
-Monoclonal T-cell receptor gene rearrangements in most cases.<ref name=":1" />
 {| class="wikitable sortable"
 |-
@@ Line 65: / Line 57: @@
 |The WHO 5th edition notes that diagnosis of SEBVTCL of childhood "may be supported by clonal TR gene rearrangements," and clonal TR gene rearrangements are included as desirable diagnostic criteria.<ref name=":3">The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref><ref name=":6">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chapters/63}}</ref>
 |}
-<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
-*No reported gene fusions
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
-<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
-* Chromosomal Rearrangements (Gene Fusions)
-* Individual Region Genomic Gain/Loss/LOH
-* Characteristic Chromosomal Patterns
-* Gene Mutations (SNV/INDEL)}}</blockquote>
-*N/A
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
 ==Individual Region Genomic Gain/Loss/LOH==
+* Cytogenetic abnormalities found in 30-35% of cases of SEBVTCL of childhood. The WHO 5th edition and International Consensus Classification note that cytogenetic abnormalities favor a diagnosis of SEBVTCL over EBV-positive nonfamilial HLH.<ref name=":0">Arber DA, Borowitz MJ, Cook JR, et al. ''The International Consensus Classification of Myeloid and Lymphoid Neoplasms''.; 2025.</ref> <ref name=":3" /><ref name=":6" /><ref name=":10" />
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
+* No observable patterns in the cytogenetic/karyotypic abnormalities to-date; cytogenetic abnormalities associated with worse prognosis<ref name=":7" /><ref name=":5">{{Cite journal|last=Hue|first=Susan Swee-Shan|last2=Oon|first2=Ming Liang|last3=Wang|first3=Shi|last4=Tan|first4=Soo-Yong|last5=Ng|first5=Siok-Bian|date=2020-01|title=Epstein-Barr virus-associated T- and NK-cell lymphoproliferative diseases: an update and diagnostic approach|url=https://pubmed.ncbi.nlm.nih.gov/31767131|journal=Pathology|volume=52|issue=1|pages=111–127|doi=10.1016/j.pathol.2019.09.011|issn=1465-3931|pmid=31767131}}</ref><ref name=":9">{{Cite journal|last=Smith|first=Megan C.|last2=Cohen|first2=Daniel N.|last3=Greig|first3=Bruce|last4=Yenamandra|first4=Ashwini|last5=Vnencak-Jones|first5=Cindy|last6=Thompson|first6=Mary Ann|last7=Kim|first7=Annette S.|date=2014|title=The ambiguous boundary between EBV-related hemophagocytic lymphohistiocytosis and systemic EBV-driven T cell lymphoproliferative disorder|url=https://pubmed.ncbi.nlm.nih.gov/25337215|journal=International Journal of Clinical and Experimental Pathology|volume=7|issue=9|pages=5738–5749|issn=1936-2625|pmc=4203186|pmid=25337215}}</ref><ref>{{Cite journal|last=Chen|first=J. S.|last2=Tzeng|first2=C. C.|last3=Tsao|first3=C. J.|last4=Su|first4=W. C.|last5=Chen|first5=T. Y.|last6=Jung|first6=Y. C.|last7=Su|first7=I. J.|date=1997-09|title=Clonal karyotype abnormalities in EBV-associated hemophagocytic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/9407723|journal=Haematologica|volume=82|issue=5|pages=572–576|issn=0390-6078|pmid=9407723}}</ref>
 {| class="wikitable sortable"
 |-
@@ Line 99: / Line 68: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span>
+|N/A
-|<span class="blue-text">EXAMPLE:</span> Loss
-|<span class="blue-text">EXAMPLE:</span>
-chr7
-|<span class="blue-text">EXAMPLE:</span>
-Unknown
-|<span class="blue-text">EXAMPLE:</span> D, P
-|<span class="blue-text">EXAMPLE:</span> No
-|<span class="blue-text">EXAMPLE:</span>
-Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
-|-
-|<span class="blue-text">EXAMPLE:</span>
-|<span class="blue-text">EXAMPLE:</span> Gain
-|<span class="blue-text">EXAMPLE:</span>
-chr8
-|<span class="blue-text">EXAMPLE:</span>
-Unknown
-|<span class="blue-text">EXAMPLE:</span> D, P
-|
-|<span class="blue-text">EXAMPLE:</span>
-Common recurrent secondary finding for t(8;21) (add references).
-|-
-|<span class="blue-text">EXAMPLE:</span>
-|<span class="blue-text">EXAMPLE:</span> Amp
-|<span class="blue-text">EXAMPLE:</span>
-q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
-|<span class="blue-text">EXAMPLE:</span>
-''ERBB2''
-|<span class="blue-text">EXAMPLE:</span> D, P, T
-|
-|<span class="blue-text">EXAMPLE:</span>
-Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
-|-
-|
 |
 |
@@ Line 144: / Line 77: @@
 |}
-<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit"><center>
-*N/A
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
 </blockquote>
 ==Characteristic Chromosomal or Other Global Mutational Patterns==
+N/A
-Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
 {| class="wikitable sortable"
 |-
@@ Line 166: / Line 92: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span>
+|N/A
-Co-deletion of 1p and 18q
-|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
-|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
-|<span class="blue-text">EXAMPLE:</span> D, P
-|
-|
-|-
-|<span class="blue-text">EXAMPLE:</span>
-Microsatellite instability - hypermutated
-|
-|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
-|<span class="blue-text">EXAMPLE:</span> P, T
-|
-|
-|-
-|
 |
 |
@@ Line 190: / Line 100: @@
 |}
-<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
+== Gene Mutations (SNV/INDELS) ==
+* Somatic mutations have been reported; however, consistent/recurrent mutations are not well-described.<ref name=":10" /><ref>{{Cite journal|last=Saleem|first=Atif|last2=Joshi|first2=Rohan|last3=Lei|first3=Li|last4=Lezama|first4=Lhara|last5=Raghavan|first5=Shyam S.|last6=Neishaboori|first6=Nastaran|last7=Roy|first7=Mohana|last8=Schroers-Martin|first8=Joe|last9=Charville|first9=Gregory W.|date=2020-03-01|title=Novel IRF8 and PD-L1 molecular aberrations in systemic EBV-positive T-cell lymphoma of childhood|url=https://www.sciencedirect.com/science/article/pii/S2214330020300055|journal=Human Pathology: Case Reports|volume=19|pages=200356|doi=10.1016/j.ehpc.2020.200356|issn=2214-3300}}</ref><ref name=":2">{{Cite journal|last=Asmussen|first=Anders|last2=Quintanilla-Martinez|first2=Leticia|last3=Larsen|first3=Martin|last4=Fagerberg|first4=Christina|last5=Bækvad-Hansen|first5=Marie|last6=Juul|first6=Maja Bech|last7=Rewers|first7=Kate|last8=Raaschou-Jensen|first8=Klas|last9=Barnkob|first9=Mike Bogetofte|date=2024-01|title=Severe lympho-depletion, abrogated thymopoiesis and systemic EBV positive T-cell lymphoma of childhood, a case|url=https://pubmed.ncbi.nlm.nih.gov/37871127|journal=Leukemia & Lymphoma|volume=65|issue=1|pages=118–122|doi=10.1080/10428194.2023.2264425|issn=1029-2403|pmid=37871127}}</ref>
-*Aneuploidies and chromosomal gains/losses have been observed but no observable patterns to-date; Associated with worse prognosis
+** ''FYN'' mutations have been reported in two cases <ref name=":10" /><ref name=":2" />
+** Mutations in ''KMT2D'', ''MFHAS1'', ''STAT3'', ''EP300'', ''ITPKB'', ''DDX3X'', ''NOTCH1'', ''NOTCH2'', and ''TET2'' (amongst others) have also been reported<ref>{{Cite journal|last=Gao|first=Li-Min|last2=Zhao|first2=Sha|last3=Zhang|first3=Wen-Yan|last4=Wang|first4=Mi|last5=Li|first5=Hui-Fang|last6=Lizaso|first6=Anle|last7=Liu|first7=Wei-Ping|date=2019|title=Somatic mutations in KMT2D and TET2 associated with worse prognosis in Epstein-Barr virus-associated T or natural killer-cell lymphoproliferative disorders|url=https://pmc.ncbi.nlm.nih.gov/articles/PMC6783120/|journal=Cancer Biology & Therapy|volume=20|issue=10|pages=1319–1327|doi=10.1080/15384047.2019.1638670|issn=1555-8576|pmc=6783120|pmid=31311407}}</ref>
-<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":0">{{Cite journal|last=Kimura|first=H.|last2=Hoshino|first2=Y.|last3=Kanegane|first3=H.|last4=Tsuge|first4=I.|last5=Okamura|first5=T.|last6=Kawa|first6=K.|last7=Morishima|first7=T.|date=2001-07-15|title=Clinical and virologic characteristics of chronic active Epstein-Barr virus infection|url=https://pubmed.ncbi.nlm.nih.gov/11435294|journal=Blood|volume=98|issue=2|pages=280–286|doi=10.1182/blood.v98.2.280|issn=0006-4971|pmid=11435294}}</ref><ref name=":1">{{Cite journal|last=Quintanilla-Martinez|first=L.|last2=Kumar|first2=S.|last3=Fend|first3=F.|last4=Reyes|first4=E.|last5=Teruya-Feldstein|first5=J.|last6=Kingma|first6=D. W.|last7=Sorbara|first7=L.|last8=Raffeld|first8=M.|last9=Straus|first9=S. E.|date=2000-07-15|title=Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/10887104|journal=Blood|volume=96|issue=2|pages=443–451|issn=0006-4971|pmid=10887104}}</ref><ref name=":2">{{Cite journal|last=Kikuta|first=H.|last2=Sakiyama|first2=Y.|last3=Matsumoto|first3=S.|last4=Oh-Ishi|first4=T.|last5=Nakano|first5=T.|last6=Nagashima|first6=T.|last7=Oka|first7=T.|last8=Hironaka|first8=T.|last9=Hirai|first9=K.|date=1993-12-01|title=Fatal Epstein-Barr virus-associated hemophagocytic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/8241498|journal=Blood|volume=82|issue=11|pages=3259–3264|issn=0006-4971|pmid=8241498}}</ref><ref name=":4">{{Cite journal|last=Suzuki|first=Keiko|last2=Ohshima|first2=Koichi|last3=Karube|first3=Kennosuke|last4=Suzumiya|first4=Junji|last5=Ohga|first5=Shouichi|last6=Ishihara|first6=Shigehiko|last7=Tamura|first7=Kazuo|last8=Kikuchi|first8=Masahiro|date=2004-05|title=Clinicopathological states of Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorders (severe chronic active EBV infection) of children and young adults|url=https://pubmed.ncbi.nlm.nih.gov/15067338|journal=International Journal of Oncology|volume=24|issue=5|pages=1165–1174|issn=1019-6439|pmid=15067338}}</ref><ref name=":5">{{Cite journal|last=Hue|first=Susan Swee-Shan|last2=Oon|first2=Ming Liang|last3=Wang|first3=Shi|last4=Tan|first4=Soo-Yong|last5=Ng|first5=Siok-Bian|date=2020-01|title=Epstein-Barr virus-associated T- and NK-cell lymphoproliferative diseases: an update and diagnostic approach|url=https://pubmed.ncbi.nlm.nih.gov/31767131|journal=Pathology|volume=52|issue=1|pages=111–127|doi=10.1016/j.pathol.2019.09.011|issn=1465-3931|pmid=31767131}}</ref><ref name=":8">{{Cite journal|last=Kasahara|first=Y.|last2=Yachie|first2=A.|last3=Takei|first3=K.|last4=Kanegane|first4=C.|last5=Okada|first5=K.|last6=Ohta|first6=K.|last7=Seki|first7=H.|last8=Igarashi|first8=N.|last9=Maruhashi|first9=K.|date=2001-09-15|title=Differential cellular targets of Epstein-Barr virus (EBV) infection between acute EBV-associated hemophagocytic lymphohistiocytosis and chronic active EBV infection|url=https://pubmed.ncbi.nlm.nih.gov/11535525|journal=Blood|volume=98|issue=6|pages=1882–1888|doi=10.1182/blood.v98.6.1882|issn=0006-4971|pmid=11535525}}</ref><ref>{{Cite journal|last=Au|first=W.-Y.|last2=Ma|first2=S.-Y.|last3=Chim|first3=C.-S.|last4=Choy|first4=C.|last5=Loong|first5=F.|last6=Lie|first6=A. K. W.|last7=Lam|first7=C. C. K.|last8=Leung|first8=A. Y. H.|last9=Tse|first9=E.|date=2005-02|title=Clinicopathologic features and treatment outcome of mature T-cell and natural killer-cell lymphomas diagnosed according to the World Health Organization classification scheme: a single center experience of 10 years|url=https://pubmed.ncbi.nlm.nih.gov/15668271|journal=Annals of Oncology: Official Journal of the European Society for Medical Oncology|volume=16|issue=2|pages=206–214|doi=10.1093/annonc/mdi037|issn=0923-7534|pmid=15668271}}</ref><ref name=":9">{{Cite journal|last=Smith|first=Megan C.|last2=Cohen|first2=Daniel N.|last3=Greig|first3=Bruce|last4=Yenamandra|first4=Ashwini|last5=Vnencak-Jones|first5=Cindy|last6=Thompson|first6=Mary Ann|last7=Kim|first7=Annette S.|date=2014|title=The ambiguous boundary between EBV-related hemophagocytic lymphohistiocytosis and systemic EBV-driven T cell lymphoproliferative disorder|url=https://pubmed.ncbi.nlm.nih.gov/25337215|journal=International Journal of Clinical and Experimental Pathology|volume=7|issue=9|pages=5738–5749|issn=1936-2625|pmc=4203186|pmid=25337215}}</ref><ref>{{Cite journal|last=Chen|first=J. S.|last2=Tzeng|first2=C. C.|last3=Tsao|first3=C. J.|last4=Su|first4=W. C.|last5=Chen|first5=T. Y.|last6=Jung|first6=Y. C.|last7=Su|first7=I. J.|date=1997-09|title=Clonal karyotype abnormalities in EBV-associated hemophagocytic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/9407723|journal=Haematologica|volume=82|issue=5|pages=572–576|issn=0390-6078|pmid=9407723}}</ref><blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
-</blockquote>
-==Gene Mutations (SNV/INDEL)==
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
 {| class="wikitable sortable"
 |-
@@ Line 216: / Line 113: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span>''EGFR''
+|N/A
-<br />
-|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
-|<span class="blue-text">EXAMPLE:</span> Oncogene
-|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
-|<span class="blue-text">EXAMPLE:</span> T
-|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
-|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
-|-
-|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
-<br />
-|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
-|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
-|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
-|<span class="blue-text">EXAMPLE:</span> P
-|
-|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
-|-
-|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
-|<span class="blue-text">EXAMPLE:</span> Activating mutations
-|<span class="blue-text">EXAMPLE:</span> Oncogene
-|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
-|<span class="blue-text">EXAMPLE:</span> T
-|
-|
-|-
-|
 |
 |
@@ Line 252: / Line 122: @@
 |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
-<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
+== Epigenomic Alterations ==
+N/A
-*All cases analyzed carry type A EBV with the wildtype or 30 bp deleted product of ''LMP1''
-<blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":4" /><ref name=":8" /><blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
-</blockquote>
-==Epigenomic Alterations==
-*N/A
-==Genes and Main Pathways Involved==
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
+== Genes and Main Pathways Involved ==
+N/A
 {| class="wikitable sortable"
 |-
 !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 |-
-|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
+|N/A
-|<span class="blue-text">EXAMPLE:</span> MAPK signaling
-|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
-|-
-|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
-|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
-|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
-|-
-|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
-|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
-|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
-|-
-|
 |
 |
 |}
-<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
+== Genetic Diagnostic Testing Methods ==
-*N/A
-<blockquote class="blockedit">
+* In the WHO 5th edition, clonal TCR-gene rearrangements are included as ''desirable'' diagnostic criteria for the diagnosis of SEBVTCL of childhood<ref name=":3" /><ref name=":6" />
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
-==Genetic Diagnostic Testing Methods==
-*WHO 5th edition ''essential'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
+* Differential Diagnosis with EBV-positive HLH is challenging
-**Acute presentation with fever and systemic symptoms
+** TCR-gene rearrangements and aberrant T-cell phenotypes can be seen in both SEBVTCL of childhood and EBV-positive HLH
-**Multiorgan infiltration by atypical T-cells
+** The WHO 5th edition and International Consensus Classification note that cytogenetic abnormalities favor a diagnosis of SEBVTCL over EBV-positive nonfamilial HLH.<ref name=":3" /><ref name=":0" />
-**EBV-positivity exclusion of known immunodeficiency
+** Primary/familial EBV-positive HLH can be excluded by family history and genetic analysis<ref name=":10" />
-*WHO 5th edition ''desirable'' diagnostic criteria include:<ref name=":3" /><ref name=":6" />
+* TCR-gene rearrangements can be detected via PCR or NGS methods. Cytogenetic abnormalities can be detected with karyotype and chromosome microarray (CMA).
-**'''Clonal TCR-gene rearrangement'''
-**Hemophagocytic lymphohistiocytosis (HLH)
-**Hepatosplenomegaly
-*TCR-gene rearrangements can be detected via PCR or NGS methods
-==Familial Forms==
+== Familial Forms ==
-*Racial predisposition suggests a genetic background; however, no specific genetic abnormalities have been detected
+N/A
-==Additional Information==
+== Additional Information ==
-Differential Diagnosis<ref>{{Cite journal|last=Montes-Mojarro|first=Ivonne A.|last2=Kim|first2=Wook Youn|last3=Fend|first3=Falko|last4=Quintanilla-Martinez|first4=Leticia|date=2020-01|title=Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/31889602|journal=Seminars in Diagnostic Pathology|volume=37|issue=1|pages=32–46|doi=10.1053/j.semdp.2019.12.004|issn=0740-2570|pmid=31889602}}</ref><ref>{{Cite journal|last=Cohen|first=Jeffrey I.|last2=Iwatsuki|first2=Keiji|last3=Ko|first3=Young-Hyeh|last4=Kimura|first4=Hiroshi|last5=Manoli|first5=Irini|last6=Ohshima|first6=Koichi|last7=Pittaluga|first7=Stefania|last8=Quintanilla-Martinez|first8=Leticia|last9=Jaffe|first9=Elaine S.|date=04 2020|title=Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting|url=https://pubmed.ncbi.nlm.nih.gov/31833428|journal=Leukemia & Lymphoma|volume=61|issue=4|pages=808–819|doi=10.1080/10428194.2019.1699080|issn=1029-2403|pmid=31833428}}</ref>
+* SEBVTCL of childhood shows an increased prevalence in populations from Asia and Latin America, suggesting a potential genetic etiology. However, no specific genetic abnormalities have been detected<ref>{{Cite journal|last=Montes-Mojarro|first=Ivonne A.|last2=Kim|first2=Wook Youn|last3=Fend|first3=Falko|last4=Quintanilla-Martinez|first4=Leticia|date=2020-01|title=Epstein - Barr virus positive T and NK-cell lymphoproliferations: Morphological features and differential diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/31889602|journal=Seminars in Diagnostic Pathology|volume=37|issue=1|pages=32–46|doi=10.1053/j.semdp.2019.12.004|issn=0740-2570|pmid=31889602}}</ref>
+* Typically occurs following primary acute EBV infection; though, it is rarely reported in patients with a history of systemic chronic active EBV (CAEBV)<ref name=":10" />
+* Harbors type A EBV with the wildtype or 30bp-deleted product of ''LMP1''<ref name=":1" /><ref name=":8">{{Cite journal|last=Kasahara|first=Y.|last2=Yachie|first2=A.|last3=Takei|first3=K.|last4=Kanegane|first4=C.|last5=Okada|first5=K.|last6=Ohta|first6=K.|last7=Seki|first7=H.|last8=Igarashi|first8=N.|last9=Maruhashi|first9=K.|date=2001-09-15|title=Differential cellular targets of Epstein-Barr virus (EBV) infection between acute EBV-associated hemophagocytic lymphohistiocytosis and chronic active EBV infection|url=https://pubmed.ncbi.nlm.nih.gov/11535525|journal=Blood|volume=98|issue=6|pages=1882–1888|doi=10.1182/blood.v98.6.1882|issn=0006-4971|pmid=11535525}}</ref><ref>{{Cite journal|last=Suzuki|first=Keiko|last2=Ohshima|first2=Koichi|last3=Karube|first3=Kennosuke|last4=Suzumiya|first4=Junji|last5=Ohga|first5=Shouichi|last6=Ishihara|first6=Shigehiko|last7=Tamura|first7=Kazuo|last8=Kikuchi|first8=Masahiro|date=2004-05|title=Clinicopathological states of Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorders (severe chronic active EBV infection) of children and young adults|url=https://pubmed.ncbi.nlm.nih.gov/15067338|journal=International Journal of Oncology|volume=24|issue=5|pages=1165–1174|issn=1019-6439|pmid=15067338}}</ref>
-*Clinical and pathologic features of EBV-HLH and systemic EBV positive T-cell lymphoma of childhood overlap. These entities have been suggested to represent a biologic continuum
+== Links ==
-*EBV-HLH is defined by a constellation of clinical symptoms and laboratory changes that might be triggered by EBV-associated lymphomas including aggressive NK-cell leukemia (ANKL) and systemic EBV-positive T-cell lymphoma of childhood
+[[HAEM4:EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of Childhood]]<center><center>
-*EBV-HLH associated with genetic abnormalities (primary HLH) can be excluded by genetic analysis and family history
-*Systemic CAEBV infection is difficult to differentiate from systemic EBV-positive T-cell lymphoma based only on morphologic grounds. The clinical information is necessary to achieve the correct diagnosis
-*ANKL is very similar to systemic EBV-positive T-cell lymphoma but the tumor cells express NK cell markers (CD56+) and do not show monoclonal TCR gene rearrangements
-Additional Information<ref name=":9" /><ref>{{Cite journal|last=Kimura|first=Hiroshi|last2=Ito|first2=Yoshinori|last3=Kawabe|first3=Shinji|last4=Gotoh|first4=Kensei|last5=Takahashi|first5=Yoshiyuki|last6=Kojima|first6=Seiji|last7=Naoe|first7=Tomoki|last8=Esaki|first8=Shinichi|last9=Kikuta|first9=Atsushi|date=2012-01-19|title=EBV-associated T/NK-cell lymphoproliferative diseases in nonimmunocompromised hosts: prospective analysis of 108 cases|url=https://pubmed.ncbi.nlm.nih.gov/22096243|journal=Blood|volume=119|issue=3|pages=673–686|doi=10.1182/blood-2011-10-381921|issn=1528-0020|pmid=22096243}}</ref><ref>{{Cite journal|last=Yoshida|first=Masanori|last2=Osumi|first2=Tomoo|last3=Imadome|first3=Ken-Ichi|last4=Tomizawa|first4=Daisuke|last5=Kato|first5=Motohiro|last6=Miyazawa|first6=Noritaka|last7=Ito|first7=Reiko|last8=Nakazawa|first8=Atsuko|last9=Matsumoto|first9=Kimikazu|date=03 2018|title=Successful treatment of systemic EBV positive T-cell lymphoma of childhood using the SMILE regimen|url=https://pubmed.ncbi.nlm.nih.gov/29648917|journal=Pediatric Hematology and Oncology|volume=35|issue=2|pages=121–124|doi=10.1080/08880018.2018.1459982|issn=1521-0669|pmid=29648917}}</ref>
-*Poor outcomes overall due to cytokine storm in HLH
-*Survival rates lower with disease onset after 8 years and with liver dysfunction at diagnosis
-*Death due to rapid disease progression for which there is no effective treatment
-*No known treatment; some case reports of response to etoposide and dexamethasone-based regimen followed by allogenic hematopoietic stem cell transplantation
-==Links==
-[[HAEM4:EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of Childhood]]
-Put your links here (use "Link" icon at top of page)
-==References==
+== References ==
-(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
+<center><center>
+<center><center>
+<center><references />
 <br />

HAEM5:Systemic EBV-positive T-cell lymphoma of childhood: Difference between revisions

Latest revision as of 12:46, 20 November 2025

Primary Author(s)*

WHO Classification of Disease

Related Terminology

Gene Rearrangements

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal or Other Global Mutational Patterns

Gene Mutations (SNV/INDELS)

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

Links

References

Notes

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