Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis
| Autor: | Chatphatai Moonla, Chantana Polprasert, Patcharee Komvilaisak, Thanawat Rattanathammethee, Sunisa Kongkiatkamon, Kitsada Wudhikarn, Sirorat Kobbuaklee, Pitchayut Boonyabaramee, Nuanrat Tangcheewinsirikul, Samart Pakakasama, Piya Rujkijyanont, Chane Choed-Amphai, Kamon Phuakpet, Saranya Pongudom, Udomsak Bunworasate, Narittee Sukswai, Darintr Sosothikul, Ponlapat Rojnuckarin |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Haematologica, Vol 108, Iss 10 (2023) |
| Druh dokumentu: | article |
| ISSN: | 0390-6078 1592-8721 |
| DOI: | 10.3324/haematol.2022.282419 |
| Popis: | Germline HAVCR2 mutations are frequently detected in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with/without hemophagocytic lymphohistiocytosis (HLH) but factors associated with variable manifestations remain undetermined. To evaluate clinical variations and associated factors in SPTCL and/or HLH with/without HAVCR2 mutations, we performed direct sequencing of HAVCR2 exon 2 using DNA from patients with SPTCL or idiopathic HLH/HLH-like systemic illnesses, defined by HLH alone without secondary causes. The systematic review and individual patient data (IPD) level meta-analysis which included the present and previously published studies reporting HAVCR2 mutations in SPTCL with/without HLH populations was subsequently conducted using random-effects meta-analysis and multivariate logistic regression. Among 34 patients enrolled, ten of 28 SPTCL patients developed HLH/HLH-like systemic illnesses. Six cases with HAVCR2Y82C mutation manifested with HLH without panniculitis. Male sex (P=0.03) and age |
| Databáze: | Directory of Open Access Journals |
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