PDF(Pubmed)
Abstract：
ETV6::ABL1 rearranged neoplasms are rare hematological diseases. To date, about 80 cases have been reported, including myeloid and lymphoid leukemias. The ETV6 gene codes for an ETS family transcription factor and several fusion partners have been described. When translocated, ETV6 causes the constitutive activation of the partner genes. Here, we report the case of a 54-year-old woman with a cryptic insertion of the 3\' region of ABL1 in the ETV6 gene. The patient was first diagnosed with idiopathic hypereosinophilic syndrome, according to the clinical history, conventional cytogenetics, standard molecular analyses and pathologist description. Next generation sequencing of diagnosis samples unexpectedly detected both ETV6::ABL1 type A and B fusion transcripts, which were then confirmed by FISH. The diagnosis was Myeloid/Lymphoid neoplasm with ETV6::ABL1 fusion, and the patient received imatinib mesylate treatment. In a follow-up after more than one year, the patient still maintained the molecular and complete hematological responses. This case highlights the importance of timely and proper diagnostics and prompt tyrosine kinase inhibitor treatment.
摘要：
ETV6::ABL1重排肿瘤是罕见的血液系统疾病。迄今为止,报告了大约80例，包括骨髓和淋巴样白血病。ETV6基因编码ETS家族转录因子，并已描述了几种融合伴侣。当移位时，ETV6导致伴侣基因的组成型激活。这里,我们报道了一例54岁女性，在ETV6基因中隐匿插入ABL1的3区。患者最初被诊断为特发性嗜酸性粒细胞增多综合征，根据临床病史,传统的细胞遗传学，标准分子分析和病理学家描述。诊断样品的下一代测序意外检测到ETV6::ABL1A型和B型融合转录本，然后由FISH确认。诊断为髓样/淋巴样肿瘤伴ETV6::ABL1融合，患者接受了甲磺酸伊马替尼治疗.在一年多的随访中，患者仍然保持分子和完全血液学反应。该病例强调了及时正确诊断和及时酪氨酸激酶抑制剂治疗的重要性。
