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

Chi‐Yuan Yao ,Shang-Yi Huang,Ming Yao,Woei Tsay,Jih-Luh Tang,Hsin An Hou ,Tzung Yi Lin ,Wen‐Chien Chou ,Yueh‐Hsiung Kuo ,Shipher Wu ,Bor Shen Ko ,Xiu Wen Liao ,Chia Wen Liu ,Mei‐Hui Tseng ,Ming Chih Liu ,Chien Yuan Chen ,Chi Cheng Li ,Chien‐Ming Lin ,Shih Ping Hsu ,Yu‐Chih Chiang ,Chieh‐Yu Liu ,Chang Hsin Lin ,Hwei‐Fang Tien

doi:10.18632/oncotarget.11050

Chi‐Yuan Yao , Shang-Yi Huang + Show 21 more

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https://doi.org/10.18632/oncotarget.11050

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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.

Highlights

Myelodysplastic syndromes (MDS), a heterogeneous group of clonal hematopoietic malignancies, are the most frequently encountered acquired bone marrow (BM) failure syndromes in adults [1, 2]
369 MDS patients diagnosed according to the WHO 2008 criteria were recruited. hypoplastic MDS (h-MDS) patients had lower peripheral blood (PB) white blood cell and blast counts, and lower BM blast percentages, than those with normo/hypercellular MDS (NH-MDS). h-MDS was closely associated with lower-risk MDS, defined by the International Prognostic Scoring System (IPSS) and revised IPSS (IPSS-R)
There was no difference in the age and gender distribution, hemoglobin, platelet, and serum lactate dehydrogenase levels between these two groups. h-MDS patients had statistically higher proportion of refractory cytopenia with unilineage dysplasia (RCUD) and refractory cytopenia with multilineage dysplasia (RCMD), but lower proportion of refractory anemia with excess blasts-1 (RAEB-1), compared with NH-MDS patients (28.0% vs. 17.5%, P= 0.029; 38.0% vs. 20.8%, P= 0.001; 11.0% vs. 24.9%, P= 0.004, respectively). h-MDS patients were classified more frequently to IPSS low and intermediate-1 risk groups (80.0% vs. 58.6%, P

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Myelodysplastic syndromes (MDS), a heterogeneous group of clonal hematopoietic malignancies, are the most frequently encountered acquired bone marrow (BM) failure syndromes in adults [1, 2]. Age-adjusted criteria of marrow hypocellularity have been proposed to define h-MDS, for instance,

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