https://scholars.lib.ntu.edu.tw/handle/123456789/537430
Title: | Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression | Authors: | HSIN-AN HOU Kuo Y.-Y. JIH-LUH TANG WEN-CHIEN CHOU MING YAO Lai Y.-J. CHIEN-CHIN LIN Chen, Chien-Yuan Liu C.-Y. Tseng M.-H. Huang C.-F. Chiang Y.-C. Lee F.-Y. Liu M.-C. Liu C.-W. SHANG-YI HUANG BOR-SHENG KO SHANG-JU WU WOEI TSAY YAO-CHANG CHEN HWEI-FANG TIEN |
Issue Date: | 2014 | Journal Volume: | 89 | Journal Issue: | 2 | Start page/Pages: | 181 | Source: | American Journal of Hematology | Abstract: | Mutations of the SET binding protein 1 (SETBP1) gene have been identified in patients with myeloid neoplasms, but the clinical relevance of this mutation and its association with other gene mutations in myelodysplastic syndrome (MDS) and the stability during disease progression remains unclear. Mutations in SETBP1 gene at exon 4 were analyzed by polymerase chain reaction and direct sequencing in 430 MDS patients. The results were correlated with clinical features, cytogenetics, gene mutations and treatment outcomes. SETBP1 mutations were identified in 14 (3.3%) of the 430 patients with primary MDS based on the FAB classification and 8 (2.4%) of the 333 patients based on the WHO classification. The SETBP1 mutation was closely associated with higher white blood cell counts, isochromosome of 17q, monosomy 7, and mutations of ASXL1, EZH2 and SRSF2. With a median follow-up of 43.9 months, MDS patients, based on either the FAB or WHO classification, had a significantly poorer overall survival (OS) if they harbored SETBP1 mutation. Further, SETBP1 mutation was an independent poor prognostic factor for OS (HR=1.842, CI 95%, 1.1018-3.332, P=0.043) irrespective of age, sex, and the International Prognostic Scoring System. Sequential analysis showed that the original SETBP1 mutations in the eight SETBP1-mutated patients studied were retained while two of the 101 SETBP1-wild patients acquired novel SETBP1 mutations during follow-ups. The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression. ? 2013 Wiley Periodicals, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84893950322&doi=10.1002%2fajh.23611&partnerID=40&md5=6cca60f614fa98bc52f170b7491879e3 https://scholars.lib.ntu.edu.tw/handle/123456789/537430 http://ntur.lib.ntu.edu.tw//handle/246246/279700 |
ISSN: | 0361-8609 | DOI: | 10.1002/ajh.23611 | SDG/Keyword: | asxl1 protein; binding protein; set binding protein 1; srsf2 protein; transcription factor EZH2; unclassified drug; adolescent; adult; aged; article; chromosome 17q; chromosome aberration; clinical feature; cytogenetics; disease classification; disease course; exon; female; follow up; gene mutation; gene sequence; human; International Prognostic Scoring System; isochromosome; leukocyte count; major clinical study; male; monosomy 7; myelodysplastic syndrome; overall survival; polymerase chain reaction; priority journal; prognosis; sequential analysis; treatment outcome; very elderly; world health organization; Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Carrier Proteins; Chromosome Aberrations; Disease Progression; Female; Follow-Up Studies; Humans; Karyotype; Male; Middle Aged; Mutation; Myelodysplastic Syndromes; Nuclear Proteins; Patient Outcome Assessment; Prognosis; Young Adult |
Appears in Collections: | 醫學系 |
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