https://pubmed.ncbi.nlm.nih.gov/38702998/
Br J Haematol. 2024 May 4. doi: 10.1111/bjh.19501. Online ahead of print.
Signy Chow, Stephanie Lee, August Lin, Kenneth J Craddock, Adam C Smith, Hubert Tsui
Abstract
Systemic mastocytosis (SM) is a rare haematological neoplasm associated with the gain of function mutation KIT D816V in 90% of adult patients. Classically, cytogenetic aberrations are not common except in cases of SM associated with another haematological neoplasm. We highlight here an unusual clinical presentation of SM and demonstrate the utility of advanced cytogenetic analysis (optical genome mapping, OGM) in detecting a novel cytogenetic abnormality resulting in an unusual mechanism of DNMT3A and TET2 loss of function.
Keywords: cancer cytogenetics; cytogenetic diagnosis; haematological malignancy; mastocytosis.
© 2024 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.
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