CHI-YUAN YAOHSIN-AN HOULin, Tzung-YiTzung-YiLinCHIEN-CHIN LINWEN-CHIEN CHOUTseng, Mei-HsuanMei-HsuanTsengChiang, Ying-ChiehYing-ChiehChiangLiu, Ming-ChihMing-ChihLiuLiu, Chia-WenChia-WenLiuKuo, Yuan-YehYuan-YehKuoSHANG-JU WULiao, Xiu-WenXiu-WenLiaoLin, Chien-TingChien-TingLinBOR-SHENG KOChen, Chien-YuanChien-YuanChenSZU-CHUN HSULi, Chi-ChengChi-ChengLiSHANG-YI HUANGMING YAOJIH-LUH TANGWOEI TSAYLiu, Chieh-YuChieh-YuLiuHWEI-FANG TIEN2021-12-072021-12-072016-09-271949-2553https://scholars.lib.ntu.edu.tw/handle/123456789/589661Myelodysplastic 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.enbone marrow hypocellularity; gene mutation; myelodysplastic syndromes; prognosis; revised international prognostic scoring systemBone marrow hypocellularity; Gene mutation; Myelodysplastic syndromes; Prognosis; Revised international prognostic scoring system[SDGs]SDG3adolescent; adult; aged; Article; ASXL1 gene; cancer incidence; cancer prognosis; cancer survival; controlled study; DNMT3A gene; EZH2 gene; female; gene expression profiling; gene mutation; human; hypoplastic myelodysplastic syndrome; International Prognostic Scoring System; major clinical study; male; malignant transformation; mutational analysis; myelodysplastic syndrome; oncogene; overall survival; progression free survival; RUNX1 gene; thrombocyte count; TP53 gene; blood; cohort analysis; disease free survival; dna mutational analysis; genetics; incidence; leukocyte; metabolism; middle aged; mutation; myelodysplastic syndrome; prognosis; Taiwan; very elderly; young adult; Adolescent; Adult; Aged; Aged, 80 and over; Cohort Studies; Disease-Free Survival; DNA Mutational Analysis; Female; Humans; Incidence; Leukocytes; Male; Middle Aged; Mutation; Myelodysplastic Syndromes; Prognosis; Taiwan; Young Adultjournal article10.18632/oncotarget.11050275278532-s2.0-84993982799https://scholars.lib.ntu.edu.tw/handle/123456789/538713