ETV6-ABL1基因融合是多种恶性肿瘤中罕见的基因重排,包括骨髓增殖性肿瘤(MPN),急性淋巴细胞白血病(ALL),和急性髓细胞性白血病(AML)。这里,我们报告了一名16岁男性被诊断患有MPN的病例,完成Burkitt白血病治疗后7个月。RNA测序分析证实了ETV6-ABL1融合转录物的存在,一个完整的,框内ABL酪氨酸激酶结构域。值得注意的是,继发性ETV6-ABL1重排的肿瘤疾病迄今尚未报道.患者开始使用酪氨酸激酶抑制剂(TKI;伊马替尼),随后,接受了10/10匹配的无关造血干细胞移植.移植后五年他无病。缺乏ETV6-ABL1融合对血液肿瘤预后影响的明确证据;然而,总体数据表明,这是一个不良的预后因素,特别是在ALL和AML患者中。这种ETV6-ABL1融合的存在应该更常规地研究,尤其是患有类似CML的患者。在临床诊断护理中更常规地使用全基因组和RNA测序分析,结合传统的细胞遗传学,将促进这些调查。
ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an ETV6-ABL1 fusion transcript, with an intact, in-frame ABL tyrosine-kinase domain. Of note, secondary ETV6-ABL1-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the ETV6-ABL1 fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations.