Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma

Blood Advances
Chantana PolprasertHideki Makishima

Abstract

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger patients and associated with hemophagocytic lymphohistiocytosis. To clarify the molecular pathogenesis of SPTCL, we analyzed paired tumor and germline DNAs from 13 patients by whole-exome sequencing. All cases were Asians and were phenotypically sporadic with no family history of SPTCL. Consistent with a recent report, germline mutations in HAVCR2, encoding T-cell immunoglobulin mucin 3 (TIM3), were identified in 11 of 13 (85%) cases. All mutated cases were primary SPTCL, whereas the 2 cases without mutation were secondary SPTCL associated with underlying diseases, including viral infection and autoimmune disease. Ten patients harbored homozygous p.Y82C mutations, and 1 showed compound heterozygous mutations (p.Y82C and p.T101I). Both missense mutations altered highly conserved residues located in the extracellular immunoglobulin variable-like domain. According to the Genome Aggregation Database of >138 500 general individuals, both mutations were documented with minor allele frequencies < 0.007, indicating remarkable enrichment of these HAVCR2 alleles in SPTCL. SPTCL cells also harbored somatic mutations (6....Continue Reading

References

Jul 1, 1990·Statistics in Medicine·Y Hochberg, Y Benjamini
Feb 16, 2006·Actas dermo-sifiliográficas·María Rodríguez-VázquezPilar Cortina
Feb 18, 2010·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Hamakwa MantinaWendy S Stevens
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Nov 30, 2010·Cell Stem Cell·Yoshikane KikushigeKoichi Akashi
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Sep 13, 2011·Nature·Kenichi YoshidaSeishi Ogawa
Mar 9, 2013·Nucleic Acids Research·Yuichi ShiraishiSatoru Miyano
Jun 10, 2016·Nature·Keisuke KataokaSeishi Ogawa
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium

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Citations

Nov 5, 2019·Nature Reviews. Immunology·Yochai WolfVijay K Kuchroo
Jul 1, 2020·Journal for Immunotherapy of Cancer·Nandini AcharyaAna Carrizosa Anderson
Oct 13, 2019·Seminars in Immunology·Walter M KimRichard S Blumberg
Feb 22, 2021·Clinical Lymphoma, Myeloma & Leukemia·Chathuri AbeyakoonH Miles Prince
Mar 16, 2021·Journal of Clinical and Experimental Hematopathology : JCEH·Mamiko Sakata-YanagimotoShigeru Chiba
May 21, 2021·Hematology/oncology and Stem Cell Therapy·Dunya Yunus AlsomaliMahmoud Aljurf
Jun 11, 2021·Nature·Karen O DixonVijay K Kuchroo
Aug 17, 2021·The Australasian Journal of Dermatology·Aaron J FrederiksRoland Brand
Oct 26, 2021·Current Opinion in Immunology·Anis BarmadaCarrie L Lucas
Dec 9, 2021·Experimental Hematology·Anna BigasFernando Gallardo
Sep 28, 2021·Blood·Cornelis P TensenMaarten H Vermeer

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