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{{DISPLAYTITLE:Subcutaneous panniculitis-like T-cell lymphoma}}
{{DISPLAYTITLE:Subcutaneous panniculitis-like T-cell lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
{{Under Construction}}
<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)*==
==Primary Author(s)*==


Ian King, PhD  
Ian King, PhD  
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|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" />
|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" /><ref name=":4" />
|Epigenetic modifiers<ref name=":2" /><ref name=":4" />
|Unregulated cell division
|Unregulated cell division

Revision as of 16:13, 6 January 2026

Haematolymphoid Tumours (WHO Classification, 5th ed.)

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] Tumor suppression[4] Increased cell growth and proliferation
NAV3[2][4][5] Microtubule activity and tumor suppression[5] Increased cell growth and proliferation

Genetic Diagnostic Testing Methods

Molecular Testing to detect detect clonal TCRB rearrangements:

  1. Polymerase Chain Reaction (PCR) fragment analysis (major diagnostic criteria)[6]

Molecular Genetic Testing for HAVCR2 variants:

  1. Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing.
  2. Sanger sequencing- to confirm or detect HAVCR2 mutations.
  3. Droplet digital PCR (ddPCR): to confirm or detect presence of the HAVCR2 p.Y82C variant[7]

Familial Forms

Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.[1][2][5]

Additional Information

Subcutaneous panniculitis like T-cell lymphoma may be triggered or associated with viral etiologies including human immunodeficiency virus (HIV)[2]; with one case being reported after vaccination for SarsCoV2[8]. Typically, this entity is Epstein-Barr virus negative; however, it is rarely detected in Asian populations[9]. Association with autoimmune conditions such as systemic lupus erythematous have also been reported[2].

Immunohistochemical profile: Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern[9][6]. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.[5]

A major diagnostic criteria for subcutaneous panniculitis like T-cell lymphoma is presence of an αβ T-cell receptor rearrangement and absence of the λδ T-cell receptor rearrangement. [6].

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 01/6/2026, https://ccga.io/index.php/HAEM5:Subcutaneous_panniculitis-like_T-cell_lymphoma.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 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. ↑ 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 2.26 2.27 2.28 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. ↑ 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. ↑ 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. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 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).
  6. ↑ 6.0 6.1 6.2 Parveen, Zahida; et al. (2009-02). "Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas". Archives of Pathology & Laboratory Medicine. 133 (2): 303–308. doi:10.5858/133.2.303. ISSN 1543-2165. PMID 19195975. Check date values in: |date= (help)
  7. ↑ Cheng, Jinjun; et al. (2024-10-01). "An investigation of germline variants of HAVCR2 in subcutaneous panniculitis-like T-cell lymphoma and related lesions in a North American population". Haematologica. 109 (10): 3363–3367. doi:10.3324/haematol.2023.284738. ISSN 1592-8721. PMC 11443401 Check |pmc= value (help). PMID 38867583 Check |pmid= value (help).
  8. ↑ Kreher, Margaret Ann; et al. (2022-10). "Subcutaneous panniculitis-like T-cell lymphoma after COVID-19 vaccination". JAAD case reports. 28: 18–20. doi:10.1016/j.jdcr.2022.08.006. ISSN 2352-5126. PMC 9364717 Check |pmc= value (help). PMID 35966352 Check |pmid= value (help). Check date values in: |date= (help)
  9. ↑ 9.0 9.1 Kong, Yun-yi; et al. (2008-10). "Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathologic, immunophenotypic, and molecular study of 22 Asian cases according to WHO-EORTC classification". The American Journal of Surgical Pathology. 32 (10): 1495–1502. doi:10.1097/PAS.0b013e31817a9081. ISSN 1532-0979. PMID 18708940. Check date values in: |date= (help)
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