Zámečníkova Adriana, Al Bahar Soad
Cytogenet Genome Res. 2018;156(3):140-143. doi: 10.1159/000494452. Epub 2018 Nov 16.
Translocations involving the RUNX1 transcription factor gene are frequently identified in leukemia patients, but the partner genes have been characterized in only about half of these cases. We report here a novel RUNX1 partner gene, KMT2C (MLL3), in a patient with de novo acute myeloid leukemia, having a novel and cytogenetically cryptic t(7;21)(q36.1;q22) leading to disruption of RUNX1 and KMT2C. This is the third cryptic RUNX1 rearrangement in myeloid and the fourth in hematologic malignancies.
在白血病患者中经常发现涉及RUNX1转录因子基因的易位，但在这些病例中只有大约一半的伴基因得到了表征。我们在此报告一名初发急性髓系白血病患者中的一个新的RUNX1伴基因KMT2C（MLL3），该患者存在一种新的、细胞遗传学上隐匿的t(7;21)(q36.1;q22)，导致RUNX1和KMT2C中断。这是髓系中第三个隐匿性RUNX1重排，也是血液系统恶性肿瘤中的第四个。
