涉及 9、11 和 14 号染色体的原始复杂重排，婴儿混合表型急性白血病中存在复杂的 KMT2A 基因重排。
An Original Complex Rearrangement Involving Chromosomes 9, 11, and 14, Harboring a Complex KMT2A Gene Rearrangement in an Infant With Mixed-phenotype Acute Leukemia.
机构信息
Cytogenetics Department, Bone Marrow Transplantation Unit, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA).
Post-Graduation Program in Oncology, National Cancer Institute (INCA).
出版信息
J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e371-e374. doi: 10.1097/MPH.0000000000001776.
KMT2A gene rearrangements represent the most frequent group of abnormalities in childhood leukemia (~70% of cases), with over 120 rearrangements described. The investigation of KMT2A rearrangements is still a vast field to be explored. Several studies have been characterizing different outcomes and leukemogenic mechanisms, depending on the translocation partner gene involved in childhood KMT2A-r leukemias. Therefore, the detection of the translocation partner gene, including in the context of complex rearrangements, may help to better delineate the disease. Here, we describe clinical and molecular cytogenetic data of a new complex variant translocation, involving chromosomes 9, 11, and 14, presenting a KMT2A gene extra copy and rearrangements, in an infant with de novo mixed-phenotype acute leukemia.
KMT2A 基因重排是儿童白血病中最常见的异常之一（约 70%的病例），已描述了超过 120 种重排。对 KMT2A 重排的研究仍然是一个有待探索的广阔领域。几项研究已经根据涉及儿童 KMT2A-r 白血病的易位伙伴基因，对不同的结果和致癌机制进行了描述。因此，易位伙伴基因的检测，包括在复杂重排的背景下，可能有助于更好地区分疾病。在这里，我们描述了一例新的复杂变异易位的临床和分子细胞遗传学数据，该易位涉及 9、11 和 14 号染色体，在一例初发混合表型急性白血病的婴儿中出现 KMT2A 基因额外拷贝和重排。
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