Distinct mutation profile and prognostic relevance in patients with hypoplastic myelodysplastic syndromes (h-MDS) | Aplastic Anemia and MDS International Foundation

Distinct mutation profile and prognostic relevance in patients with hypoplastic myelodysplastic syndromes (h-MDS)

Journal Title: 
Oncotarget
Primary Author: 
Yao CY
Author(s): 
Yao CY, Hou HA, Lin TY, Lin CC, Chou WC, Tseng MH, Chiang YC, Liu MC, Liu CW, Kuo YY, Wu SJ, Liao XW, Lin CT, Ko BS, Chen CY, Hsu SC, Li CC, Huang SY, Yao M, Tang JL, Tsay W, Liu CY, Tien HF
Original Publication Date: 
Thursday, August 4, 2016

Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic malignancies. Although most MDS patients have normal or increased BM cellularity (NH-MDS), some have hypocellular BM (h-MDS). The reports concerning the differences in genetic alterations between h-MDS and NH-MDS patients are limited. In this study, 369 MDS patients diagnosed according to the WHO 2008 criteria were recruited. h-MDS patients had lower PB white blood cell and blast counts, and lower BM blast percentages, than those with NH-MDS. h-MDS was closely associated with lower-risk MDS, defined by the International Prognostic Scoring System (IPSS) and revised IPSS (IPSS-R). IPSS-R could properly predict the prognosis in h-MDS (P<0.001) as in NH-MDS patients. The h-MDS patients had lower incidences of RUNX1, ASXL1, DNMT3A, EZH2 and TP53 mutations than NH-MDS patients. The cumulated incidence of acute leukemic transformation at 5 years was 19.3% for h-MDS and 40.4% for NH-MDS patients (P= 0.001). Further, the patients with h-MDS had longer overall survival (OS) than those with NH-MDS (P= 0.001), and BM hypocellularity remains an independent favorable prognostic factor for OS irrespective of age, IPSS-R, and gene mutations. Our findings provide evidence that h-MDS indeed represent a distinct clinico-biological subgroup of MDS and can predict better leukemia-free survival and OS.

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