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Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases.

Authors: Ok, CY  Patel, KP  Garcia-Manero, G  Routbort, MJ  Fu, B  Tang, G  Goswami, M  Singh, R  Kanagal-Shamanna, R  Pierce, SA  Young, KH  Kantarjian, HM  Medeiros, LJ  Luthra, R  Wang, SA 
Citation: Ok CY, etal., Leuk Res. 2015 Mar;39(3):348-54. doi: 10.1016/j.leukres.2014.12.006. Epub 2014 Dec 20.
Pubmed: (View Article at PubMed) PMID:25573287
DOI: Full-text: DOI:10.1016/j.leukres.2014.12.006

In this study we used a next generation sequencing-based approach to profile gene mutations in therapy-related myelodysplastic syndromes (t-MDS) and acute myeloid leukemia (t-AML); and compared these findings with de novo MDS/AML. Consecutive bone marrow samples of 498 patients, including 70 therapy-related (28 MDS and 42 AML) and 428 de novo (147 MDS and 281 AML) were analyzed using a modified-TruSeq Amplicon Cancer Panel (Illumina) covering mutation hotspots of 53 genes. Overall, mutation(s) were detected in 58.6% of t-MDS/AML and 56.8% of de novo MDS/AML. Of therapy-related cases, mutations were detected in 71.4% of t-AML versus 39.3% t-MDS (p=0.0127). TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly higher than de novo MDS (17.7%) (p=0.0410) and de novo AML (12.8%) (p=0.0020). t-AML showed more frequent PTPN11 but less NPM1 and FLT3 mutations than de novo AML. In summary, t-MDS/AML shows a mutation profile different from their de novo counterparts. TP53 mutations are highly and similarly prevalent in t-MDS and t-AML but mutations in genes other than TP53 were more frequent in t-AML than t-MDS. The molecular genetic profiling further expands our understanding in this group of clinically aggressive yet heterogeneous myeloid neoplasms.

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CRRD Object Information
CRRD ID: 11075071
Created: 2016-05-05
Species: All species
Last Modified: 2016-05-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.