Department of Hematology and Oncology, Dokkyo Medical University, Tochigi, Japan.
Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
Int J Hematol. 2023 Sep;118(3):388-393. doi: 10.1007/s12185-023-03577-z. Epub 2023 Mar 17.
8p11 myeloproliferative syndrome is a rare hematological malignancy caused by the translocation of FGFR1. Patients present with a myeloproliferative neoplasm that frequently transforms into acute myeloid leukemia or T-lymphoblastic lymphoma/leukemia. Here, we report a molecular study of a patient with 8p11 myeloproliferative syndrome who developed acute B-lymphoblastic leukemia and then transformed to mixed-phenotype acute leukemia. A 67-year-old woman was diagnosed with a myeloproliferative neoplasm with t(6;8)(q27;p12) and was monitored for polycythemia vera. Four years later, she developed acute B-lymphoblastic leukemia with an additional chromosomal abnormality of - 7. Despite two induction regimens, she failed to achieve complete remission, and leukemia transformed into mixed-phenotype leukemia. Targeted sequencing of serial bone marrow samples identified the RUNX1 L144R mutation upon transformation to B-cell leukemia. After those two induction regimens, some RUNX1 mutation-positive leukemic cells obtained the JAK2 V617F mutation, which was associated with the emergence of myeloid markers, including myeloperoxidase.
8p11 骨髓增生性综合征是一种罕见的血液系统恶性肿瘤，由 FGFR1 易位引起。患者表现为骨髓增生性肿瘤，常转化为急性髓系白血病或 T 淋巴细胞母细胞淋巴瘤/白血病。在这里，我们报告了一例 8p11 骨髓增生性综合征患者的分子研究，该患者发生急性 B 淋巴细胞白血病，然后转化为混合表型急性白血病。一名 67 岁女性被诊断为骨髓增生性肿瘤伴 t(6;8)(q27;p12)，并监测真性红细胞增多症。四年后，她发展为急性 B 淋巴细胞白血病，同时还存在 -7 号染色体额外异常。尽管接受了两种诱导方案，但她未能达到完全缓解，白血病转化为混合表型白血病。对连续骨髓样本的靶向测序在转化为 B 细胞白血病时发现 RUNX1 L144R 突变。在那两种诱导方案之后，一些 RUNX1 突变阳性的白血病细胞获得了 JAK2 V617F 突变，这与髓系标志物的出现有关，包括髓过氧化物酶。
