骨髓增殖性肿瘤患者亲属中的血液系统恶性肿瘤。
Haematological malignancies in relatives of patients affected with myeloproliferative neoplasms.
作者信息
Vanni Daniele, Borsani Oscar, Nannya Yasuhito, Sant'Antonio Emanuela, Trotti Chiara, Casetti Ilaria Carola, Pietra Daniela, Gallì Anna, Zibellini Silvia, Ferretti Virginia Valeria, Malcovati Luca, Ogawa Seishi, Arcaini Luca, Rumi Elisa
机构信息
Department of Molecular Medicine University of Pavia Pavia Italy.
Division of Haematology Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo Pavia Italy.
出版信息
EJHaem. 2022 Mar 24;3(2):475-479. doi: 10.1002/jha2.425. eCollection 2022 May.
In a cohort of 3131 patients with myeloproliferative neoplasms (MPNs), we identified 200 patients (6.4%) who reported a second case of haematological malignancies (HM) in first- or second-degree relatives. The occurrence of a second HM in the family was not influenced by MPN subtype, sex or driver mutation, while it was associated with age at MPN diagnosis: 8.5% of patients diagnosed with MPN younger than 45 years had a second relative affected with HM compared to 5.5% of those diagnosed at the age of 45 years or older (0.003), thus suggesting a genetic predisposition to HM with early onset.
在一个由3131例骨髓增殖性肿瘤（MPN）患者组成的队列中，我们识别出200例患者（6.4%），他们报告一级或二级亲属中有第二例血液系统恶性肿瘤（HM）。家族中第二例HM的发生不受MPN亚型、性别或驱动突变的影响，而与MPN诊断时的年龄相关：45岁以下诊断为MPN的患者中有8.5%的二级亲属患HM，而45岁及以上诊断为MPN的患者中这一比例为5.5%（P=0.003），这表明早发性HM存在遗传易感性。
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