Lu Nina, Neoh Chin Loon, Ruan Zhengying, Zhao Lei, Ying Limei, Zhang Xiaochang, Chen Sai, Xu Linglong
Department of Hematology, Taizhou Central Hospital (Taizhou University Hospital), Taizhou, Zhejiang 318000, People's Republic of China.
Department of Hematology, Royal Marsden Hospital, London SW3 6JJ, UK.
Onco Targets Ther. 2020 Apr 23;13:3431-3435. doi: 10.2147/OTT.S245950. eCollection 2020.
Essential thrombocythaemia (ET) and Waldenström macroglobulinaemia (WM) are two distinct disorders. Studies have reported several cases of myeloproliferative neoplasms (MPNs) with concomitant plasma cell dyscrasia. However, there were no reported cases of ET with concomitant WM to date. Here, we present a 55-year-old Chinese man with thrombocytosis and raised immunoglobulin level. Further investigations led to a diagnosis of ET and coexistent WM. Next-generation sequencing (NGS) of his bone marrow identified 3 mutated genes: JAK2 V617F, MYD88 L265P, and ATM F1036L. After being treated with pegylated interferon and low-dose aspirin, his platelet count normalized and immunoglobulin M (IgM) level reduced. To the best of our knowledge, this is the first reported case of dual pathology ET with WM.
原发性血小板增多症（ET）和华氏巨球蛋白血症（WM）是两种不同的疾病。研究报告了几例伴有浆细胞异常增殖的骨髓增殖性肿瘤（MPN）。然而，迄今为止，尚无ET合并WM的病例报道。在此，我们报告一名55岁的中国男性，其血小板增多且免疫球蛋白水平升高。进一步检查诊断为ET合并WM。对其骨髓进行的二代测序（NGS）鉴定出3个突变基因：JAK2 V617F、MYD88 L265P和ATM F1036L。在接受聚乙二醇干扰素和低剂量阿司匹林治疗后，他的血小板计数恢复正常，免疫球蛋白M（IgM）水平降低。据我们所知，这是首例ET合并WM的双重病理报告病例。
