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Risk stratification is critical in the care of patients with myelodysplastic syndromes (MDS). Approximately 10% have a complex karyotype (CK), defined as more than two cytogenetic abnormalities, which is a highly adverse prognostic marker. However, CK-MDS can carry a wide range of chromosomal abnormalities and somatic mutations. To refine risk stratification of CK-MDS patients, we examined data from 359 CK-MDS patients shared by the International Working Group for MDS. Mutations were underrepresented with the exception of TP53 mutations, identified in 55% of patients. TP53 mutated patients had even fewer co-mutated genes but were enriched for the del(5q) chromosomal abnormality (p 10%), abnormal 3q, abnormal 9, and monosomy 7 as having the greatest survival risk. The poor risk associated with CK-MDS is driven by its association with prognostically adverse TP53 mutations and can be refined by considering clinical and karyotype features.

Original publication

DOI

10.1038/s41375-018-0351-2

Type

Journal article

Journal

Leukemia

Publication Date

07/2019

Volume

33

Pages

1747 - 1758

Keywords

Aged, Aged, 80 and over, Biomarkers, Tumor, Chromosome Aberrations, Combined Modality Therapy, Female, Follow-Up Studies, Humans, Karyotyping, Male, Middle Aged, Mutation, Myelodysplastic Syndromes, Prognosis, Survival Rate, Tumor Suppressor Protein p53