Cancer Genetics ( IF 1.9 ) Pub Date : 2021-03-21 , DOI: 10.1016/j.cancergen.2021.03.002 Dhanlaxmi Shetty 1 , Purvi Mohanty 1 , Elizabeth Talker 1 , Hemani Jain 1 , Kruti Chaubal 1 , Prashant Tembhare 2 , Nikhil Patkar 2 , Papagudi Subramanian 2 , Nirmalya Roy Moulik 3 , Chetan Dhamne 3 , Gaurav Narula 3 , Shripad Banavali 3
Acute Myeloid Leukemia (AML) is a heterogeneous disease with respect to morphology, immunophenotype, chromosomal abnormalities and genetic lesions. While a majority of AML cases harbour recurrent chromosomal abnormalities, several rare, apparently unique or novel aberrations may be identified by conventional cytogenetics. In fact, with the prognostic relevance of chromosomal abnormalities, and with the advent of new-age, target-specific therapy, identifying such aberrations becomes vital. In this study, we present a case of pediatric AML with ins(19;X)(q13.1;p11.2q28) and t(1;11)(q10;p10), both, novel, previously unreported chromosomal abnormalities in AML. Post induction, both these clonal cytogenetic abnormalities persisted. The documentation of this case will help determine the significance of these cytogenetic abnormalities. Also, this case exemplifies the importance of cytogenetics in the complete characterization and risk stratification of AML patients.
中文翻译:
常规细胞遗传学在识别小儿 AML 病例中的 ins(19;X)(q13.1;p11.2q28) 和 t(1;11)(q10;p10) 中的重要性
急性髓性白血病 (AML) 是一种在形态学、免疫表型、染色体异常和遗传病变方面的异质性疾病。虽然大多数 AML 病例具有复发性染色体异常,但可以通过常规细胞遗传学鉴定一些罕见的、明显独特的或新的畸变。事实上,随着染色体异常的预后相关性以及新时代、靶向特异性疗法的出现,识别此类异常变得至关重要。在本研究中,我们介绍了一例具有 ins(19;X)(q13.1;p11.2q28) 和 t(1;11)(q10;p10) 的儿科 AML 病例,两者都是以前未报告的 AML 中的新染色体异常. 诱导后,这两种克隆性细胞遗传学异常持续存在。该病例的记录将有助于确定这些细胞遗传学异常的重要性。还,