Cancer Cytogenetics Department, Advanced Centre for Treatment Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, India.
Department of Hematopathology, Advanced Centre for Treatment Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, India; Homi Bhabha National Institute (HBNI), Anushaktinagar, Mumbai, India.
Cancer Genet. 2021 Aug;256-257:17-20. doi: 10.1016/j.cancergen.2021.03.002. Epub 2021 Mar 21.
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.
急性髓细胞白血病（AML）在形态学、免疫表型、染色体异常和遗传病变方面具有异质性。虽然大多数 AML 病例存在反复出现的染色体异常，但通过常规细胞遗传学可识别几种罕见、明显独特或新的异常。事实上，随着染色体异常的预后相关性以及新一代靶向特异性治疗的出现，确定这些异常变得至关重要。在这项研究中，我们报告了一例伴有 ins(19;X)(q13.1;p11.2q28)和 t(1;11)(q10;p10)的儿科 AML 病例，这两种异常均为 AML 中以前未报道过的新的、独特的染色体异常。诱导后，这两种克隆性细胞遗传学异常均持续存在。该病例的记录将有助于确定这些细胞遗传学异常的意义。此外，该病例说明了细胞遗传学在 AML 患者的全面特征描述和风险分层中的重要性。
