Jeha George M, Wesley Tiffany, Cataldo Vince D
Louisiana State University Health Sciences Center, New Orleans, LA, USA.
Louisiana State University Health Sciences Center, Baton Rouge, LA, USA.
J Hematol. 2020 Apr;9(1-2):13-17. doi: 10.14740/jh605. Epub 2020 Apr 23.
Identification of chromosomal abnormalities in patients with acute myeloid leukemia (AML) has contributed substantially to our current understanding of the molecular pathogenesis underlying leukemogenesis, and risk-stratification based on molecular abnormalities both influences treatment strategies and aids in determining prognosis. While over 300 established mutations have been documented in AML, the enhanced availability of genetic analysis and the increase in awareness of uncommon chromosomal translocations have made it possible for rare, apparently unique translocations to become recognized and to ultimately gain prognostic significance. Hence, we present a case of AML with a novel, balanced 2;12 translocation involving breakpoints previously undescribed. Although the patient required second induction, first remission was ultimately achieved. While the prognostic significance of this translocation is not fully elucidated, it is our hope that documentation of this patient's presentation will help to characterize the significance of a yet undefined cytogenetic abnormality in AML.
急性髓系白血病（AML）患者染色体异常的鉴定极大地促进了我们目前对白血病发生分子发病机制的理解，基于分子异常的风险分层既影响治疗策略，又有助于判断预后。虽然AML中已记录了300多种已确定的突变，但基因分析的可用性提高以及对罕见染色体易位认识的增加，使得罕见的、明显独特的易位得以被识别，并最终获得预后意义。因此，我们报告一例AML患者，其具有一种新的、平衡的2;12易位，涉及先前未描述的断点。尽管该患者需要二次诱导，但最终实现了首次缓解。虽然这种易位的预后意义尚未完全阐明，但我们希望记录该患者的表现将有助于明确AML中一种尚未明确的细胞遗传学异常的意义。
