Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada.
Department of Pediatrics, Division of Pediatric Hematology/Oncology, CHUL-Laval, Laval University, Quebec City, QC G1V 4G2, Canada.
Curr Oncol. 2023 Jun 21;30(7):5946-5952. doi: 10.3390/curroncol30070444.
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 fusion transcript, with an intact, in-frame tyrosine-kinase domain. Of note, secondary -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 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.
基因融合是多种恶性肿瘤中罕见的遗传重排,包括骨髓增生性肿瘤(MPN)、急性淋巴细胞白血病(ALL)和急性髓系白血病(AML)。在这里,我们报告了一例 16 岁男性的病例,他在完成伯基特白血病治疗 7 个月后被诊断为 MPN。RNA 测序分析证实存在 融合转录本,具有完整的、框内的 酪氨酸激酶结构域。值得注意的是,目前尚未报道继发 -重排的肿瘤性疾病。该患者开始接受酪氨酸激酶抑制剂(TKI;伊马替尼)治疗,随后进行了 10/10 配型无关的造血干细胞移植。移植后五年无病生存。融合在血液恶性肿瘤中的预后影响的明确证据尚缺乏;然而,总体数据表明,它是一个不良预后因素,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进行研究,特别是在具有 CML 样表现的患者中。在临床诊断护理中更常规地使用全基因组和 RNA 测序分析,结合常规细胞遗传学,将有助于进行这些研究。