KEGG   DISEASE: Subcutaneous panniculitis-like T-cell lymphoma
Entry
H02661                      Disease                                
Name
Subcutaneous panniculitis-like T-cell lymphoma
Description
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger patients and associated with hemophagocytic lymphohistiocytosis. Recently, germline mutations in HAVCR2, encoding T-cell immunoglobulin mucin 3 (TIM3), were identified in patients.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Mature T-cell or NK-cell neoplasms
    Mature T-cell or NK-cell lymphomas and lymphoproliferative disorders, primary cutaneous specified types
     2B00  Subcutaneous panniculitis-like T-cell lymphoma
      H02661  Subcutaneous panniculitis-like T-cell lymphoma
Gene
HAVCR2 [HSA:84868] [KO:K20414]
Other DBs
ICD-11: 2B00
MeSH: C537503
OMIM: 618398
Reference
PMID:30374066
  Authors
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N
  Title
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic  syndrome.
  Journal
Nat Genet 50:1650-1657 (2018)
DOI:10.1038/s41588-018-0251-4
Reference
PMID:30792187
  Authors
Polprasert C, Takeuchi Y, Kakiuchi N, Yoshida K, Assanasen T, Sitthi W, Bunworasate U, Pirunsarn A, Wudhikarn K, Lawasut P, Uaprasert N, Kongkiatkamon S, Moonla C, Sanada M, Akita N, Takeda J, Fujii Y, Suzuki H, Nannya Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Rojnuckarin P, Ogawa S, Makishima H
  Title
Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma.
  Journal
Blood Adv 3:588-595 (2019)
DOI:10.1182/bloodadvances.2018028340
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