慢性粒单核细胞白血病转化为难治性急性髓系白血病时发现伊马替尼反应性 FIP1L1-PDGFRA 突变。
Discovery of imatinib-responsive FIP1L1-PDGFRA mutation during refractory acute myeloid leukemia transformation of chronic myelomonocytic leukemia.
机构信息
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, MS-72, 77030 Houston, TX, USA.
出版信息
J Hematol Oncol. 2014 Mar 27;7:26. doi: 10.1186/1756-8722-7-26.
Abstract
The FIP1L1-PDGFRA rearrangement results in constitutive activation of the tyrosine kinase PDGFRA. Neoplasms harboring this rearrangement are responsive to imatinib mesylate at doses much lower than those recommended for the treatment of chronic myelogenous leukemia. Only a single report has described the identification of FIP1L1-PDGFRA in chronic myelomonocytic leukemia (CMML). Herein, we present a case report of a patient in whom the FIP1L1-PDGFRA was discovered as he evolved from CMML to acute myeloid leukemia (AML). The presence of a dominant neoplastic clone with FIP1L1-PDGFRA rearrangement was suspected on the basis of sudden onset of peripheral and bone marrow eosinophilia and confirmed by fluorescence in situ hybridization and molecular diagnostic tests. Whereas the patient was initially refractory to chemotherapy before the rearrangement was detected, subsequent therapy with imatinib led to complete remission.
摘要
FIP1L1-PDGFRA 重排导致酪氨酸激酶 PDGFRA 的组成性激活。携带这种重排的肿瘤对甲磺酸伊马替尼的反应剂量远低于治疗慢性髓性白血病的推荐剂量。仅有一份报告描述了慢性髓单核细胞白血病（CMML）中 FIP1L1-PDGFRA 的鉴定。在此，我们报告了一例患者的病例，该患者从 CMML 进展为急性髓系白血病（AML）时发现了 FIP1L1-PDGFRA。根据外周血和骨髓嗜酸性粒细胞突然增多，并通过荧光原位杂交和分子诊断检测证实存在 FIP1L1-PDGFRA 重排的优势肿瘤克隆，怀疑存在该重排。在检测到重排之前，患者最初对化疗有耐药性，随后用伊马替尼治疗导致完全缓解。
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