Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. Issue 11 (3rd September 2013)

• Record Type: Journal Article
• Authors: Wu, Shang-Ju; Tang, Jih-Luh; Lin, Chien-Ting; Kuo, Yuan-Yeh; Li, Li-Yu; Tseng, Mei-Hsuan; Huang, Chi-Fei; Lai, Yen-Jun; Lee, Fen-Yu; Liu, Ming-Chih; Liu, Chia-Wen; Hou, Hsin-An; Chen, Chien-Yuan; Chou, Wen-Chien; Yao, Ming; Huang, Shang-Yi; Ko, Bor-Sheng; Tsay, Woei; Tien, Hwei-Fang
• Is Part Of: American journal of hematology. Volume 88:Issue 11(2013:Nov.)
• Page Start: E277
• Page End: E282
• Publication Date: 2013-09-03
• Subjects: Hematology -- Periodicals; 616.15
• DOI: 10.1002/ajh.23541
• Languages: English
• ISSNs: 0361-8609

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We aimed to analyze clinical impacts of the <italic>U2AF1</italic> mutation on patients with myelodysplastic syndrome (MDS) and its stability during disease progression. We checked mutation status of the <italic>U2AF1</italic> by direct sequencing in 478 <italic>de novo</italic> MDS patients and correlated with the clinical characteristics and outcomes. We also sequentially analyzed the <italic>U2AF1</italic> mutation in 421 samples from 142 patients to determine its stability during the disease courses. Thirty‐six patients (7.5%) were found to have <italic>U2AF1</italic> mutations, which occurred more frequently in younger patients (<italic>P</italic> = 0.033). <italic>U2AF1</italic> mutation was an independent poor‐risk factor for overall survival (OS) in all patients (<italic>P</italic> = 0.030) and younger patients (<italic>P</italic> = 0.041). <italic>U2AF1</italic> mutation could also predict shorter time‐to‐leukemia transformation (TTL) in younger patients (<italic>P</italic> = 0.020). In addition, <italic>U2AF1</italic> mutation was associated with shorter TTL in lower‐risk MDS patients. Sequential analyses showed all original <italic>U2AF1</italic> mutations in <italic>U2AF1</italic>‐mutated patients were retained during follow‐ups unless complete remission was achieved, whereas none of the <italic>U2AF1</italic>‐wild patients acquired a novel mutation during disease evolution. <italic>U2AF1</italic> mutation is more prevalent in younger MDS patients and associated with inferior outcomes although it is stable during the clinical course. The mutation may be used as a biomarker for risk stratification. Am. J. Heamtol. 88:E277–E282, 2013. © 2013 Wiley Periodicals, Inc.</p> </abstract>