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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 <jats:italic>DNMT3A<\/jats:italic> and <jats:italic>TET2<\/jats:italic> loss of function.<\/jats:p>","DOI":"10.1111\/bjh.19501","type":"journal-article","created":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T09:05:35Z","timestamp":1714813535000},"page":"961-966","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Diagnosis of systemic mastocytosis with cryptic deletion of <scp>TET2<\/scp> and <scp>DNMT3A<\/scp> resulting from unbalanced translocation"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6303-1774","authenticated-orcid":false,"given":"Signy","family":"Chow","sequence":"first","affiliation":[{"name":"Department of Medicine Temerty Faculty 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