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The five\u2010year survival rate of SPTCL has been reported to be over 80%, indicating a favorable prognosis. Recent studies have uncovered recurrent germline variants in <jats:italic>HAVCR2<\/jats:italic>, encoding an immunomodulator. In this study, we integrated whole\u2010exome sequencing data from 60 samples collected from 36 SPTCL patients, encompassing six patients of our cohort and 30 patients of publicly available data. We identified 138 somatic mutations in skin tumors of 24 patients and <jats:italic>HAVCR2<\/jats:italic> germline mutations in 23 of 29 patients. <jats:italic>HAVCR2<\/jats:italic> p.Tyr82Cys mutations were identified in four of six Japanese patients. During the clinical courses of four patients, cyclophosphamide, hydroxydaunomycin, vincristine, and prednisone were administered to all patients, but it resulted in incomplete responses in all four patients. However, disease conditions of all patients remained stable with additional treatment, including autologous peripheral blood stem cell transplantation. Over a 7.5\u2010year median follow\u2010up, one patient developed autoimmune\u2010related diseases, while one developed other hematological malignancy, resulting in death. To our knowledge, this is the first report of recurrent <jats:italic>HAVCR2<\/jats:italic> germline mutations in Japanese patients, suggesting the necessity for long\u2010term follow\u2010up.<\/jats:p>","DOI":"10.1111\/cas.16345","type":"journal-article","created":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T22:41:16Z","timestamp":1726612876000},"page":"3788-3794","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic profiles and clinical features in subcutaneous panniculitis\u2010like T\u2010cell lymphomas"],"prefix":"10.1111","volume":"115","author":[{"given":"Yui","family":"Okamura","sequence":"first","affiliation":[{"name":"School of Medicine and Health Sciences, College of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5808-816X","authenticated-orcid":false,"given":"Kenichi","family":"Makishima","sequence":"additional","affiliation":[{"name":"Department of Hematology University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhito","family":"Suehara","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sakurako","family":"Suma","sequence":"additional","affiliation":[{"name":"Department of Hematology University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1021-7911","authenticated-orcid":false,"given":"Yoshiaki","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Matsuoka","sequence":"additional","affiliation":[{"name":"Department of Pathology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuhiro","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0810-7887","authenticated-orcid":false,"given":"Keiichiro","family":"Hattori","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0366-4147","authenticated-orcid":false,"given":"Yasuhisa","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"},{"name":"Department of Clinical Laboratory University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Nanmoku","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology, Graduate School of Medical Sciences Kyushu University Graduate School of Medical Sciences  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Nishiyama","sequence":"additional","affiliation":[{"name":"Department of Pathology Japanese Red Cross Fukuoka Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Medicine and Biosystemic Science Kyushu University Graduate School of Medical Sciences  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhide","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology, Graduate School of Medicine Kyoto University  Kyoto Japan"},{"name":"Department of Diagnostic Pathology Kyoto University Hospital  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Makishima","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology, Graduate School of Medicine Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokai University School of Medicine  Isehara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Chiba","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7310-8045","authenticated-orcid":false,"given":"Mamiko","family":"Sakata\u2010Yanagimoto","sequence":"additional","affiliation":[{"name":"Department of Hematology University of Tsukuba Hospital  Tsukuba Japan"},{"name":"Department of Hematology, Institute of Medicine University of Tsukuba  Tsukuba Japan"},{"name":"Division of Advanced Hemato\u2010Oncology, Transborder Medical Research Center University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2020.01.010"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-04-087288"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2018.05.1243"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021004562"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2543"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00134-010-1936-z"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2007.05.001"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0251-4"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018028340"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019003811"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14611"},{"key":"e_1_2_12_13_1","unstructured":"Germline 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