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Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality.

Authors
  • Torkildsen, Synne1, 2
  • Gorunova, Ludmila1
  • Heim, Sverre1, 3
  • Tjønnfjord, Geir E2, 3
  • Spetalen, Signe4
  • Risberg, Bente4
  • Tran, Hoa Thi Tuyet5
  • Panagopoulos, Ioannis6
  • 1 Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Oslo, Norway. , (Norway)
  • 2 Department of Haematology, Oslo University Hospital, Oslo, Norway. , (Norway)
  • 3 Institute of Clinical Medicine, University of Oslo, Oslo, Norway. , (Norway)
  • 4 Department of Pathology, University of Oslo, Oslo, Norway. , (Norway)
  • 5 Department of Haematology, Akershus University Hospital, Lørenskog, Norway. , (Norway)
  • 6 Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, Oslo University Hospital, Oslo, Norway [email protected] , (Norway)
Type
Published Article
Journal
Cancer Genomics & Proteomics
Publisher
International Institute of Anticancer Research
Publication Date
Jan 01, 2019
Volume
16
Issue
3
Pages
175–178
Identifiers
DOI: 10.21873/cgp.20123
PMID: 31018948
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

The aim of the study was to determine the genetic and molecular consequences of trisomy 4, a recurrent but rare chromosomal abnormality in acute myeloid leukemia (AML). Interphase fluorescence in situ hybridization, reverse transcriptase-quantitative polymerase chain reaction for 28 chromosomal gene translocations/fusion genes, and targeted sequencing analyses were performed on five AMLs with trisomy 4 as the sole chromosomal anomaly. An NPM1 frameshift mutation was found in all leukemic bone marrows, DNMT3A, FLT3, and IDH1 mutations were found in three, KIT and NRAS mutations in two, whereas IDH2 (R140Q), RUNX1, and WT1 mutations were found in only one patient each. The three patients with a DNMT3A (R882H) mutation have died. In contrast, the two patients whose leukemic cells were without this mutation, are alive 55 and 31 months after diagnosis, respectively. The results suggest a possible association between trisomy 4 and additional mutations that may influence prognosis. Copyright© 2019, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

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