SAFU Unit, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.
J Transl Med. 2022 Jul 6;20(1):311. doi: 10.1186/s12967-022-03486-5.
Acute Myeloid Leukaemia (AML) is a haematological malignancy showing a hypervariable landscape of clinical outcomes and phenotypic differences, explainable by heterogeneity at the cellular and molecular level. Among the most common genomic alterations, CBFB-MYH11 rearrangement and FLT3-ITD gene mutations, have opposite clinical significance and are unfrequently associated. We present here a Molecular Case Report in which these two events co-exist an ultra-aggressive phenotype resulting in death in 4 days from hospital admittance. Somatic and germline Whole Exome Sequencing analysis was performed to uncover other putative driver mutations, de-novo genomic structural events or germline clusters increasing cancer insurgence. Only three mutations in LTK, BCAS2 and LGAS9 were found, unlikely causative of the exhibited phenotype, prompting to additional investigation of the rare CBFB-MYH11/ FLT3-ITD scenario.
急性髓系白血病 (AML) 是一种血液系统恶性肿瘤，表现出临床结局和表型差异的高度可变性，这可以用细胞和分子水平的异质性来解释。在最常见的基因组改变中，CBFB-MYH11 重排和 FLT3-ITD 基因突变具有相反的临床意义，且很少同时发生。我们在这里报告了一个分子病例报告，其中这两种情况同时存在，表现出超侵袭性的表型，导致患者入院后 4 天死亡。进行了体细胞和种系全外显子组测序分析，以揭示其他潜在的驱动突变、新发生的基因组结构事件或增加癌症发生的种系簇。仅发现 LTK、BCAS2 和 LGAS9 中的三个突变，不太可能导致表现出的表型，促使对罕见的 CBFB-MYH11/FLT3-ITD 情况进行进一步研究。
