{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T03:20:24Z","timestamp":1773717624350,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,3,12]]},"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Acute monocytic leukaemia (French-British-American classification: AML-M5b) is characterised by a predominance of cells of the monocytic lineage on bone marrow examination. Furthermore, a discerning feature is its tendency for tissue infiltration. While gum hypertrophy and hepatosplenomegaly are common, ocular involvement is rare. Here, we present a case of a 75-year-old man referred with proptosis and monocytosis\u2014subsequently diagnosed as AML-M5b, whose disease course was distinguished by extensive tissue invasion (ocular, pulmonary, liver, spleen). Cytogenetics and molecular tests were consistent with blastic transformation of previously undiagnosed chronic myelomonocytic leukaemia, supported by the presence of long-standing, low-grade monocytosis. Notably, a <jats:italic>BRAF<\/jats:italic> V600E mutation was also detected\u2014an oncogenic driver previously reported in de novo and therapy-related, but not chronic myelomonocytic leukaemia-transformed, AML-M5b. While an initial response to cytoreductive treatment was observed, his tissue-invasive disease soon progressed with worsening pulmonary infiltrates, disseminated intravascular coagulation and renal failure, resulting in death.<\/jats:p>","DOI":"10.1136\/bcr-2018-228519","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T05:15:43Z","timestamp":1554182143000},"page":"e228519","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Ocular infiltration as initial presentation of acute monocytic leukaemia transformed from chronic myelomonocytic leukaemia associated with <i>BRAF<\/i> V600E mutation"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6224-1940","authenticated-orcid":false,"given":"Aditya","family":"Tedjaseputra","sequence":"first","affiliation":[{"name":"Department of Clinical Haematology, Monash Health, Clayton, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fathima Shahla","family":"Vilcassim","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Monash Health, Clayton, Victoria, Australia"},{"name":"Immunohaematology Laboratory, Centre for Cancer Research, Hudson Institute of Medical Research, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Grigoriadis","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Monash Health, Clayton, Victoria, Australia"},{"name":"Immunohaematology Laboratory, Centre for Cancer Research, Hudson Institute of Medical Research, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,3,31]]},"reference":[{"key":"2025082801005758000_12.3.e228519.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-04-347229"},{"key":"2025082801005758000_12.3.e228519.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"key":"2025082801005758000_12.3.e228519.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200206-554OC"},{"key":"2025082801005758000_12.3.e228519.4","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1159\/000442951","article-title":"Unilateral Eye Findings: A Rare Herald of Acute Leukemia","volume":"2","author":"Patel","year":"2016","journal-title":"Ocul Oncol 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