Marked response to imatinib mesylate in a patient with platelet-derived growth factor receptor beta-associated acute myeloid leukemia
Marked response to imatinib mesylate in a patient with platelet-derived growth factor receptor beta-associated acute myeloid leukemia
复制标题
血小板衍生生长因子受体β相关急性髓性白血病患者对甲磺酸伊马替尼有显着反应
DOI：
10.1007/s12185-016-2167-z
复制
发表时间：
2017
影响因子：
2.1
通讯作者：
T. Ishikawa
中科院分区：
文献类型：
--
作者：
Y. Shimomura;H. Maruoka;T. Ishikawa
血小板衍生生长因子受体(PDGFR)介导的信号转导异常可能导致血液病。PDGFRβ(PDGFRb)基因位于染色体5q31-33带，是染色体易位的结果，形成融合基因。虽然PDGFRb重排的患者大多表现为骨髓增生性肿瘤和嗜酸性粒细胞增多症，但在该人群中也有急性髓系白血病(AML)和急性淋巴细胞白血病(ALL)的报道。甲磺酸伊马替尼单独治疗对骨髓增生性肿瘤有很好的长期疗效；然而，它对急性淋巴细胞白血病和急性髓系白血病的长期影响尚未阐明。一名75岁男子被诊断为急性髓系白血病，携带PDGFRb和cGMP依赖的蛋白激酶2融合基因，并伴有额外的遗传异常。单药甲磺酸伊马替尼持续治疗9个月后，细胞遗传学缓解，分子负担减轻；然而，白血病随后复发，患者在开始治疗后1年死亡。本病例报告支持在患者筛查过程中进行细胞遗传学分析的重要性。
Abnormal platelet-derived growth factor receptor (PDGFR)-mediated signaling may cause hematologic neoplasm. The PDGFR beta (PDGFRB) gene, located at chromosome band 5q31-33, forms a fusion gene as a result of chromosome translocation. Although patients with PDGFRB rearrangement mostly present with myeloproliferative neoplasm and eosinophilia, acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) have also been reported in this population. Treatment with imatinib mesylate alone has been shown to have excellent long-term efficacy against myeloproliferative neoplasms; however, its long-term effects on ALL and AML have not been elucidated. A 75-year-old man was diagnosed with acute myeloid leukemia having the PDGFRB and cGMP-dependent protein kinase 2 fusion gene with additional genetic abnormalities. Continuous therapy with single-agent imatinib mesylate resulted in cytogenetic remission and decreased molecular burden for 9 months; however, the leukemia subsequently recurred, and the patient died 1 year after initiation of treatment. This case report supports the importance of cytogenetic analysis during patient screening.