ArticleBrazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica2021
Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report.
Article in Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 5 citations in OpenAlex.
- Hypoxia induced DNMT3B and SHP2 signaling promoted HCC via suppressing P53 and MYH11 protein expression.Frontiers in oncology · 2026Article
- Article
- The Fusion Genes and Their Relation with Genetic Variants in Egyptian AML Patients.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Genetic Insights and Clinical Implications in the Diagnosis of Acute Myeloid Leukemia: An Updated Perspective.International journal of molecular and cellular medicine · 2025Article
- ConcurrentEJHaem · 2024Article
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology.Journal of cellular and molecular medicine · 2024Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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Abstract
Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit (CBFβ)/smooth muscle myosin heavy chain 11 (MYH11) fusion gene. Different breakpoints were observed in the CBFβ gene at 16q22 and the MYH11 gene at 16p13.1. For this reason, different CBFβ/MYH11 fusion genes are generated, with more than 13 types having been reported to date. Type I CBFβ/MYH11 fusion transcripts are very rare, with only 10 cases being reported to date. This case report describes a primary AML patient with inv(16)(p13.1q22) and a rare type I CBFβ/MYH11 fusion gene. The morphological analysis did not conform to the typical M4eo. Abnormal eosinophils were less than 5%, and there was obvious dysgranulopoiesis. The patient was in hematological and genetic remission for 487 days after the initial chemotherapy cycles. However, the CBFβ/MYH11 fusion had been constantly positive. Moreover, the presence of non-type A fusions may affect its biology and clinical prognosis. Therefore, further studies on understanding its biological and prognostic significance are essential.
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