Novel Recurrent Cytogenetic Abnormalities Predict Overall Survival in Tetraploid/Near-Tetraploid Myelodysplastic Syndrome and Acute Myeloid Leukemia.

ABSTRACT:

Background/objectives

Tetraploidy (4n = 92 chromosomes) and near-tetraploidy (81-103 chromosomes) (T/NT) are uncommon cytogenetic events in MDS/AML (~1%). Abnormalities reported to be associated with T/NT MDS/AML include -5/del(5q), -7/del(7q), +8, and +21. However, other clinically relevant abnormalities likely remain "hidden" in long strings of ISCN cytogenetic nomenclature when evaluated visually. To date, no studies have had the statistical power and a computational method to identify novel recurrent abnormalities associated with the T/NT karyotype or overall survival (OS).

Methods

Using CytoGPS, a bioinformatic tool we developed, we converted karyotypes from a combined cohort of 75 T/NT MDS/AML cases from two institutions into a binary Loss-Gain-Fusion model, which is a

SUBMITTER: Avenarius MR 

PROVIDER: S-EPMC12025582 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature