Department of Hematology, NTT Medical Center Tokyo, Tokyo, Japan.
Division of Hematology, Diabetes, and Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Int J Hematol. 2024 Jun;119(6):722-727. doi: 10.1007/s12185-024-03740-0. Epub 2024 Mar 8.
Myeloid and lymphoid neoplasms associated with FGFR1 abnormalities (MLN-FGFR1 abnormalities) are rare hematologic malignancies associated with chromosome 8p11.2 abnormalities. Translocations of 8p11.2 were detected in 10 of 17,039 (0.06%) unique patient cytogenetic studies performed at nine institutions in Japan. No inversions or insertions of 8p11.2 were detected. Among the 10 patients with 8p11.2 translocations, three patients were diagnosed with MLN-FGFR1 abnormalities, which were confirmed by FISH analysis. Peripheral blood eosinophilia was observed in all three patients, and all progressed to AML or T-lymphoblastic lymphoma/leukemia. The prevalence of 8p11.2 translocations in clinical practice and the proportion of MLN-FGFR1 abnormalities in patients with 8p11.2 translocations in Japan were consistent with those in previous reports from Western countries.
与 FGFR1 异常相关的髓系和淋系肿瘤（MLN-FGFR1 异常）是一种罕见的血液系统恶性肿瘤，与染色体 8p11.2 异常有关。在日本 9 家机构进行的 17039 例（0.06%）独特患者细胞遗传学研究中，检测到 8p11.2 的易位有 10 例。未检测到 8p11.2 的倒位或插入。在 10 例 8p11.2 易位患者中，有 3 例被诊断为 MLN-FGFR1 异常，通过 FISH 分析得到证实。所有 3 例患者均出现外周血嗜酸性粒细胞增多，且均进展为 AML 或 T 淋巴母细胞淋巴瘤/白血病。8p11.2 易位在临床实践中的发生率以及日本 8p11.2 易位患者中 MLN-FGFR1 异常的比例与西方国家的先前报告一致。
