Core-binding factor abnormalities involving chromosome 16 in acute myeloid leukaemia: prognostic and therapeutic implications.
Chinmayee PanigrahiNakul TikarePrabodha Kumar DasSomanath PadhiPublished in: BMJ case reports (2023)
Core-binding factor (CBF) abnormality-associated myeloid neoplasms incorporate acute myeloid leukaemia (AML) (CBF-AML) with translocation t(8;21)(q22;q22.1) ( AML1/ETO fusion) and inv(16)(p13.1q22) or translocation t(16;16)(p13.1;q22) ( CBFB/MYH11 fusion) abnormalities which confer a favourable prognosis following cytarabine-based induction chemotherapy. Accumulating evidence from the molecular studies have stratified CBF-AML into favourable and unfavourable subgroups based on the associated cooperating mutations that impact the outcome. We describe a case of acute myelomonocytic leukaemia with abnormal eosinophils ( M4Eo ) in a woman in her 20s who was found to have CBFβ/MYH11 fusion along with mutated c-KIT (exon 17) and KRAS (exon 2) genes by next-generation sequencing. She had an aggressive clinical course following initiation of cytarabine-based induction chemotherapy. The underlying mutational landscape may significantly influence the biological behaviour of otherwise favourable risk of CBF-AML cases.
Keyphrases
- acute myeloid leukemia
- liver failure
- allogeneic hematopoietic stem cell transplantation
- respiratory failure
- aortic dissection
- hypertrophic cardiomyopathy
- copy number
- locally advanced
- extracorporeal membrane oxygenation
- heart failure
- genome wide
- binding protein
- dna methylation
- single molecule
- high dose
- dna binding
- left ventricular
- single cell
- genome wide identification