{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:40:00Z","timestamp":1765233600930,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,7,31]]},"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>Core-binding factor (CBF) abnormality-associated myeloid neoplasms incorporate acute myeloid leukaemia (AML) (CBF-AML) with translocation t(8;21)(q22;q22.1) (<jats:italic>AML1\/ETO<\/jats:italic> fusion) and inv(16)(p13.1q22) or translocation t(16;16)(p13.1;q22) (<jats:italic>CBFB\/MYH11<\/jats:italic> 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 (<jats:italic>M4Eo<\/jats:italic>) in a woman in her 20s who was found to have <jats:italic>CBF\u03b2\/MYH11<\/jats:italic> fusion along with mutated <jats:italic>c-KIT<\/jats:italic> (exon 17) and <jats:italic>KRAS<\/jats:italic> (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.<\/jats:p>","DOI":"10.1136\/bcr-2022-252915","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T11:04:31Z","timestamp":1692270271000},"page":"e252915","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Core-binding factor abnormalities involving chromosome 16 in acute myeloid leukaemia: prognostic and therapeutic implications"],"prefix":"10.1136","volume":"16","author":[{"given":"Chinmayee","family":"Panigrahi","sequence":"first","affiliation":[{"name":"Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nakul","family":"Tikare","sequence":"additional","affiliation":[{"name":"Medical Oncology\/Hematology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prabodha Kumar","family":"Das","sequence":"additional","affiliation":[{"name":"Medical Oncology\/Hematology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3452-7236","authenticated-orcid":false,"given":"Somanath","family":"Padhi","sequence":"additional","affiliation":[{"name":"Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"2025082709072515000_16.8.e252915.1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1080\/16078454.2020.1765561","article-title":"Mutational landscape of patients with acute myeloid leukemia or myelodysplastic syndromes in the context of Runx1 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