RT Journal Article
SR Electronic
T1 Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality
JF Cancer Genomics - Proteomics
JO Cancer Genomics Proteomics
FD International Institute of Anticancer Research
SP 175
OP 178
DO 10.21873/cgp.20123
VO 16
IS 3
A1 SYNNE TORKILDSEN
A1 LUDMILA GORUNOVA
A1 SVERRE HEIM
A1 GEIR E. TJØNNFJORD
A1 SIGNE SPETALEN
A1 BENTE RISBERG
A1 HOA THI TUYET TRAN
A1 IOANNIS PANAGOPOULOS
YR 2019
UL http://cgp.iiarjournals.org/content/16/3/175.abstract
AB Background/Aim: 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). Materials and Methods: 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. Results: 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. Conclusion: The results suggest a possible association between trisomy 4 and additional mutations that may influence prognosis.