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  • Core-binding factor abnormalities involving chromosome 16 in acute myeloid leukaemia: prognostic and therapeutic implications

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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Core-binding factor abnormalities involving chromosome 16 in acute myeloid leukaemia: prognostic and therapeutic implications
  1. Chinmayee Panigrahi1,
  2. Nakul Tikare2,
  3. Prabodha Kumar Das2 and
  4. Somanath Padhi1
  1. 1Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
  2. 2Medical Oncology/Hematology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
  1. Correspondence to Dr Somanath Padhi; somanath.padhi{at}gmail.com

Abstract

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.

  • Cancer - see Oncology
  • Haematology (incl blood transfusion)
  • Pathology

https://doi.org/10.1136/bcr-2022-252915

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    Footnotes

    • Contributors CP and NT did data collection, data interpretation and diagnosis. SP did conceptual design, diagnosis, literature review, writing and editing of the manuscript. NT and PKD provided patient details, management and follow-up data. All authors approved the final version of the manuscript to be published.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.