PT  - JOURNAL ARTICLE
AU  - SYNNE TORKILDSEN
AU  - LUDMILA GORUNOVA
AU  - SVERRE HEIM
AU  - GEIR E. TJØNNFJORD
AU  - SIGNE SPETALEN
AU  - BENTE RISBERG
AU  - HOA THI TUYET TRAN
AU  - IOANNIS PANAGOPOULOS
TI  - Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality
AID  - 10.21873/cgp.20123
DP  - 2019 May 01
TA  - Cancer Genomics - Proteomics
PG  - 175--178
VI  - 16
IP  - 3
4099  - http://cgp.iiarjournals.org/content/16/3/175.short
4100  - http://cgp.iiarjournals.org/content/16/3/175.full
SO  - Cancer Genomics Proteomics2019 May 01; 16
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.