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Interrogation of molecular profiles can help in differentiating between MDS and AML with MDS-related changes. Leuk Lymphoma 2020 06;61(6):1418-1427



Pubmed ID




Scopus ID

2-s2.0-85078892494   1 Citation


A subset of AML with myelodysplastic syndrome (MDS)-related changes (MRCs) occurs without a documented MDS phase. We studied genomic profile of 646 patients: 310 with MDS, 167 with AML without (w/o) MRC, 99 with primary (p) AML-MRC, and 70 with secondary (s) AML-MRC and sought to find differences in mutational patterns. Among the 32-myeloid associated genes studied, SF3B1 (p ≤ .001) was significantly mutated in higher proportion of patients with MDS, compared to other categories. NPM1 (p < .001), FLT3 ITD (p = .08), and NRAS (p = .02) mutations showed trend toward significance for AML w/o MRC, compared to other categories. In pAML-MRC, TP53 (p < .001) was significantly mutated in higher proportion of patients. Similarly, SETBP1 (p = .001), RUNX1 (p = .004), and SRSF2 (p = .04) mutations were more commonly seen in sAML-MRC. While these signatures may not be diagnostically discriminatory, they may help in disease categorization when other data are absent or in challenging cases.

Author List

Badar T, Szabo A, Sallman D, Komrojki R, Lancet J, Padron E, Song J, Hussaini MO


Aniko Szabo PhD Professor in the Institute for Health and Equity department at Medical College of Wisconsin

jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a