HAEM5:Subcutaneous panniculitis-like T-cell lymphoma: Difference between revisions
Jump to navigation
Jump to search
| [unchecked revision] | [unchecked revision] |
No edit summary |
No edit summary |
||
| Line 10: | Line 10: | ||
Ian King, PhD | Ian King, PhD | ||
Katelyn Swanson, DO | |||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
| Line 44: | Line 46: | ||
==Gene Rearrangements== | ==Gene Rearrangements== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 63: | Line 64: | ||
|} | |} | ||
==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 80: | Line 80: | ||
|} | |} | ||
==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 99: | Line 98: | ||
|} | |} | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 110: | Line 108: | ||
|HAVCR2 | |HAVCR2 | ||
|Specific missense loss of function <ref name=":1">{{Cite journal|last=Gayden|first=Tenzin|last2=Sepulveda|first2=Fernando E.|last3=Khuong-Quang|first3=Dong-Anh|last4=Pratt|first4=Jonathan|last5=Valera|first5=Elvis T.|last6=Garrigue|first6=Alexandrine|last7=Kelso|first7=Susan|last8=Sicheri|first8=Frank|last9=Mikael|first9=Leonie G.|date=2018-12|title=Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/30374066|journal=Nature Genetics|volume=50|issue=12|pages=1650–1657|doi=10.1038/s41588-018-0251-4|issn=1546-1718|pmid=30374066}}</ref> | |Specific missense loss of function <ref name=":1">{{Cite journal|last=Gayden|first=Tenzin|last2=Sepulveda|first2=Fernando E.|last3=Khuong-Quang|first3=Dong-Anh|last4=Pratt|first4=Jonathan|last5=Valera|first5=Elvis T.|last6=Garrigue|first6=Alexandrine|last7=Kelso|first7=Susan|last8=Sicheri|first8=Frank|last9=Mikael|first9=Leonie G.|date=2018-12|title=Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/30374066|journal=Nature Genetics|volume=50|issue=12|pages=1650–1657|doi=10.1038/s41588-018-0251-4|issn=1546-1718|pmid=30374066}}</ref> | ||
|Tumor suppressor | |Tumor suppressor | ||
|Common >20%, <ref name=":0">{{Cite journal|last=Polprasert|first=Chantana|last2=Takeuchi|first2=Yasuhide|last3=Kakiuchi|first3=Nobuyuki|last4=Yoshida|first4=Kenichi|last5=Assanasen|first5=Thamathorn|last6=Sitthi|first6=Wimonmas|last7=Bunworasate|first7=Udomsak|last8=Pirunsarn|first8=Arunrat|last9=Wudhikarn|first9=Kitsada|date=2019-02-26|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/30792187|journal=Blood Advances|volume=3|issue=4|pages=588–595|doi=10.1182/bloodadvances.2018028340|issn=2473-9537|pmc=6391671|pmid=30792187}}</ref><ref name=":1" /> | |Common >20%, <ref name=":0">{{Cite journal|last=Polprasert|first=Chantana|last2=Takeuchi|first2=Yasuhide|last3=Kakiuchi|first3=Nobuyuki|last4=Yoshida|first4=Kenichi|last5=Assanasen|first5=Thamathorn|last6=Sitthi|first6=Wimonmas|last7=Bunworasate|first7=Udomsak|last8=Pirunsarn|first8=Arunrat|last9=Wudhikarn|first9=Kitsada|date=2019-02-26|title=Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/30792187|journal=Blood Advances|volume=3|issue=4|pages=588–595|doi=10.1182/bloodadvances.2018028340|issn=2473-9537|pmc=6391671|pmid=30792187}}</ref><ref name=":1" /> | ||
|May have prognostic and therapeutic significance in patients presenting with hemophagocytic syndromes.<ref name=":3">{{Cite journal|last=Sonigo|first=Gabrielle|last2=Battistella|first2=Maxime|last3=Beylot-Barry|first3=Marie|last4=Ingen-Housz-Oro|first4=Saskia|last5=Franck|first5=Nathalie|last6=Barete|first6=Stéphane|last7=Boulinguez|first7=Serge|last8=Dereure|first8=Olivier|last9=Bonnet|first9=Nathalie|date=2020-03-26|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/32005988|journal=Blood|volume=135|issue=13|pages=1058–1061|doi=10.1182/blood.2019003811|issn=1528-0020|pmid=32005988}}</ref> | |May have prognostic and therapeutic significance in patients presenting with severe hemophagocytic syndromes.<ref name=":3">{{Cite journal|last=Sonigo|first=Gabrielle|last2=Battistella|first2=Maxime|last3=Beylot-Barry|first3=Marie|last4=Ingen-Housz-Oro|first4=Saskia|last5=Franck|first5=Nathalie|last6=Barete|first6=Stéphane|last7=Boulinguez|first7=Serge|last8=Dereure|first8=Olivier|last9=Bonnet|first9=Nathalie|date=2020-03-26|title=HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/32005988|journal=Blood|volume=135|issue=13|pages=1058–1061|doi=10.1182/blood.2019003811|issn=1528-0020|pmid=32005988}}</ref> | ||
| | |Not applicable | ||
|Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" /><ref name=":3" /> | |Homozygous p.Y82C pathogenic variant is more common in East Asian populations<ref name=":1" /><ref name=":0" />, with p.T101I being a variant in South Asian (Thai) populations<ref name=":0" />, and p.I97M being more common in European and North African populations.<ref name=":1" /><ref name=":0" /><ref name=":3" /> | ||
|}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. | |}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. | ||
| Line 121: | Line 118: | ||
None currently identified. | None currently identified. | ||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
|ARID1B, SMARCA4, NCOR1, KMT2C, KMT2D, DOTIL, CHD3, CHD4, PBRM1, CREBBP, ASXL1, MBD1, KMT2B, HIST1H3J | |ARID1B<ref name=":0" /><ref name=":2" />, SMARCA4<ref name=":0" /><ref name=":2" />, NCOR1<ref name=":0" /><ref name=":2" />, KMT2C<ref name=":2" />, KMT2D<ref name=":2" />, DOTIL<ref name=":0" /><ref name=":2" />, CHD3<ref name=":0" /><ref name=":2" /><ref name=":4">{{Cite journal|last=Koh|first=Jiwon|last2=Jang|first2=Insoon|last3=Mun|first3=Seungchan|last4=Lee|first4=Cheol|last5=Cha|first5=Hee Jeong|last6=Oh|first6=Young Ha|last7=Kim|first7=Jin-Man|last8=Han|first8=Jae Ho|last9=Paik|first9=Jin Ho|date=2021-10-26|title=Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations|url=https://pubmed.ncbi.nlm.nih.gov/34535012|journal=Blood Advances|volume=5|issue=20|pages=3919–3930|doi=10.1182/bloodadvances.2021004562|issn=2473-9537|pmc=8945616|pmid=34535012}}</ref>, CHD4<ref name=":0" /><ref name=":2" />, PBRM1<ref name=":2" />, CREBBP<ref name=":0" /><ref name=":2" />, ASXL1<ref name=":0" /><ref name=":2" /><ref name=":4" />, MBD1<ref name=":2" />, KMT2B<ref name=":0" /><ref name=":2" />, HIST1H3J<ref name=":2" />, CDC27<ref name=":4" />, TET2<ref name=":0" /><ref name=":4" /> | ||
|Epigenetic modifiers<ref name=":2" /> | |Epigenetic modifiers<ref name=":2" /><ref name=":4" /> | ||
|Unregulated cell division | |Unregulated cell division | ||
|- | |- | ||
|TSC1, MTOR, PIK3CB, PIK3CA, PIK3CD | |TSC1<ref name=":0" /><ref name=":2" />, TSC2<ref name=":0" /><ref name=":2" />, MTOR<ref name=":0" /><ref name=":2" />, PIK3CB<ref name=":0" /><ref name=":2" />, PIK3CA<ref name=":0" /><ref name=":2" />, PIK3CD<ref name=":0" /><ref name=":2" />, AKT2<ref name=":2" /> | ||
|PI3K/AKT/mTOR pathway<ref name=":2">{{Cite journal|last=Li|first=Zhaoming|last2=Lu|first2=Lisha|last3=Zhou|first3=Zhiyuan|last4=Xue|first4=Weili|last5=Wang|first5=Yingjun|last6=Jin|first6=Mengyuan|last7=Qiu|first7=Yajuan|last8=Sun|first8=Wei|last9=Fu|first9=Xuefei|date=2018-05|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/28294301|journal=British Journal of Haematology|volume=181|issue=3|pages=406–410|doi=10.1111/bjh.14611|issn=1365-2141|pmid=28294301}}</ref> | |PI3K/AKT/mTOR pathway<ref name=":0" /><ref name=":2">{{Cite journal|last=Li|first=Zhaoming|last2=Lu|first2=Lisha|last3=Zhou|first3=Zhiyuan|last4=Xue|first4=Weili|last5=Wang|first5=Yingjun|last6=Jin|first6=Mengyuan|last7=Qiu|first7=Yajuan|last8=Sun|first8=Wei|last9=Fu|first9=Xuefei|date=2018-05|title=Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/28294301|journal=British Journal of Haematology|volume=181|issue=3|pages=406–410|doi=10.1111/bjh.14611|issn=1365-2141|pmid=28294301}}</ref> | ||
|Increased cell growth and proliferation | |Increased cell growth and proliferation | ||
|- | |- | ||
|''IL7R, JAK3, STAT3'' | |''IL7R''<ref name=":0" /><ref name=":2" />'', JAK3''<ref name=":0" /><ref name=":2" /><ref name=":4" />'', STAT3''<ref name=":0" /><ref name=":2" />'', PIAS3''<ref name=":4" /> | ||
|JAK3/STAT pathway<ref name=":2" /> | |JAK3/STAT pathway<ref name=":0" /><ref name=":2" /> | ||
|Unregulated cell division | |Unregulated cell division | ||
|- | |- | ||
|TP53 | |TP53<ref name=":2" />; loss of tumor suppression | ||
|TP53 | |TP53<ref name=":2" /> | ||
|Increased cell growth and proliferation | |Increased cell growth and proliferation | ||
|- | |- | ||
| | |NAV3<ref name=":0" /><ref name=":2" /><ref name=":4" /> ; microtubule dysfunction leading to unregulated cell growth | ||
| | | | ||
| | | | ||
| Line 149: | Line 145: | ||
Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | ||
==Familial Forms== | ==Familial Forms== | ||
Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?. | Hereditary germline mutations Autosomal recessive Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?. | ||
==Additional Information== | ==Additional Information== | ||
Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) | Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) or are associated with autoimmune conditions like HIV and systemic lupus erythematous can trigger | ||
==Links== | ==Links== | ||
Revision as of 09:16, 18 December 2025
Haematolymphoid Tumours (WHO Classification, 5th ed.)
 | This page is under construction |
(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 HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support.)
Primary Author(s)*
Ian King, PhD
Katelyn Swanson, DO
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 | Primary cutaneous T-cell lymphoid proliferations and lymphomas |
| Subtype(s) | Subcutaneous panniculitis-like T-cell lymphoma |
Related Terminology
| Acceptable | N/A |
| Not Recommended | N/A |
Gene Rearrangements
| 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 |
|---|---|---|---|---|---|---|---|
Individual Region Genomic Gain/Loss/LOH
| 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 |
|---|---|---|---|---|---|---|
Characteristic Chromosomal or Other Global Mutational Patterns
| 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 |
|---|---|---|---|---|---|
Gene Mutations (SNV/INDEL)
| 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 |
|---|---|---|---|---|---|---|
| HAVCR2 | Specific missense loss of function [1] | Tumor suppressor | Common >20%, [2][1] | May have prognostic and therapeutic significance in patients presenting with severe hemophagocytic syndromes.[3] | Not applicable | Homozygous p.Y82C pathogenic variant is more common in East Asian populations[1][2], with p.T101I being a variant in South Asian (Thai) populations[2], and p.I97M being more common in European and North African populations.[1][2][3] |
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
None currently identified.
Genes and Main Pathways Involved
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| ARID1B[2][4], SMARCA4[2][4], NCOR1[2][4], KMT2C[4], KMT2D[4], DOTIL[2][4], CHD3[2][4][5], CHD4[2][4], PBRM1[4], CREBBP[2][4], ASXL1[2][4][5], MBD1[4], KMT2B[2][4], HIST1H3J[4], CDC27[5], TET2[2][5] | Epigenetic modifiers[4][5] | Unregulated cell division |
| TSC1[2][4], TSC2[2][4], MTOR[2][4], PIK3CB[2][4], PIK3CA[2][4], PIK3CD[2][4], AKT2[4] | PI3K/AKT/mTOR pathway[2][4] | Increased cell growth and proliferation |
| IL7R[2][4], JAK3[2][4][5], STAT3[2][4], PIAS3[5] | JAK3/STAT pathway[2][4] | Unregulated cell division |
| TP53[4]; loss of tumor suppression | TP53[4] | Increased cell growth and proliferation |
| NAV3[2][4][5] ; microtubule dysfunction leading to unregulated cell growth |
Genetic Diagnostic Testing Methods
Put your text here (Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.)
Familial Forms
Hereditary germline mutations Autosomal recessive Familial disease in East Asian population: recessive. Hereditary form is Associated with severe HLH?.
Additional Information
Suggestions that this entity is triggered by viral etiologies (EBV/COVID-19) or are associated with autoimmune conditions like HIV and systemic lupus erythematous can trigger
Links
Put a link here or anywhere appropriate in this page (Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "http://www." portion.)
References
(use the "Cite" icon at the top of the page) (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.)
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):
*Citation of this Page: “Subcutaneous panniculitis-like T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/18/2025, https://ccga.io/index.php/HAEM5:Subcutaneous_panniculitis-like_T-cell_lymphoma.
- ↑ 1.0 1.1 1.2 1.3 Gayden, Tenzin; et al. (2018-12). "Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome". Nature Genetics. 50 (12): 1650–1657. doi:10.1038/s41588-018-0251-4. ISSN 1546-1718. PMID 30374066. Check date values in:
|date=(help) - ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 2.17 2.18 2.19 2.20 2.21 2.22 2.23 2.24 2.25 Polprasert, Chantana; et al. (2019-02-26). "Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma". Blood Advances. 3 (4): 588–595. doi:10.1182/bloodadvances.2018028340. ISSN 2473-9537. PMC 6391671. PMID 30792187.
- ↑ 3.0 3.1 Sonigo, Gabrielle; et al. (2020-03-26). "HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma". Blood. 135 (13): 1058–1061. doi:10.1182/blood.2019003811. ISSN 1528-0020. PMID 32005988 Check
|pmid=value (help). - ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 4.12 4.13 4.14 4.15 4.16 4.17 4.18 4.19 4.20 4.21 4.22 4.23 4.24 4.25 4.26 4.27 4.28 4.29 Li, Zhaoming; et al. (2018-05). "Recurrent mutations in epigenetic modifiers and the PI3K/AKT/mTOR pathway in subcutaneous panniculitis-like T-cell lymphoma". British Journal of Haematology. 181 (3): 406–410. doi:10.1111/bjh.14611. ISSN 1365-2141. PMID 28294301. Check date values in:
|date=(help) - ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 Koh, Jiwon; et al. (2021-10-26). "Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations". Blood Advances. 5 (20): 3919–3930. doi:10.1182/bloodadvances.2021004562. ISSN 2473-9537. PMC 8945616 Check
|pmc=value (help). PMID 34535012 Check|pmid=value (help).