Research Papers:

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

Chi-Yuan Yao, Hsin-An Hou, Tzung-Yi Lin, Chien-Chin Lin, Wen-Chien Chou, Mei-Hsuan Tseng, Ying-Chieh Chiang, Ming-Chih Liu, Chia-Wen Liu, Yuan-Yeh Kuo, Shang-Ju Wu, Xiu-Wen Liao, Chien-Ting Lin, Bor-Shen Ko, Chien-Yuan Chen, Szu-Chun Hsu, Chi-Cheng Li, Shang-Yi Huang, Ming Yao, Jih-Luh Tang, Woei Tsay, Chieh-Yu Liu and Hwei-Fang Tien _

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Oncotarget. 2016; 7:63177-63188. https://doi.org/10.18632/oncotarget.11050

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Chi-Yuan Yao1,*, Hsin-An Hou1,*, Tzung-Yi Lin1, Chien-Chin Lin1,2, Wen-Chien Chou1,2, Mei-Hsuan Tseng1, Ying-Chieh Chiang1, Ming-Chih Liu3, Chia-Wen Liu3, Yuan-Yeh Kuo4, Shang-Ju Wu1, Xiu-Wen Liao5, Chien-Ting Lin1,5, Bor-Shen Ko1, Chien-Yuan Chen1, Szu-Chun Hsu2, Chi-Cheng Li5, Shang-Yi Huang1, Ming Yao1, Jih-Luh Tang1,5, Woei Tsay1, Chieh-Yu Liu6, Hwei-Fang Tien1

1Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan

2Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan

3Department of Pathology, National Taiwan University Hospital, Taipei, Taiwan

4Graduate Institute of Oncology, College of Medicine, National Taiwan University, Taipei, Taiwan

5Tai-Cheng Stem Cell Therapy Center, National Taiwan University, Taipei, Taiwan

6Biostatistics Consulting Laboratory, Department of Nursing, National Taipei College of Nursing, Taipei, Taiwan

*These authors have contributed equally to this work

Correspondence to:

Hwei-Fang Tien, email: [email protected]

Keywords: myelodysplastic syndromes, bone marrow hypocellularity, revised international prognostic scoring system, gene mutation, prognosis

Received: April 14, 2016     Accepted: July 10, 2016     Published: 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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