PT  - JOURNAL ARTICLE
AU  - Aditya Tedjaseputra
AU  - Fathima Shahla Vilcassim
AU  - George Grigoriadis
TI  - Ocular infiltration as initial presentation of acute monocytic leukaemia transformed from chronic myelomonocytic leukaemia associated with <em>BRAF</em> V600E mutation
AID  - 10.1136/bcr-2018-228519
DP  - 2019 Mar 01
TA  - BMJ Case Reports
PG  - e228519
VI  - 12
IP  - 3
4099  - http://casereports.bmj.com/content/12/3/e228519.short
4100  - http://casereports.bmj.com/content/12/3/e228519.full
SO  - BMJ Case Reports2019 Mar 01; 12
AB  - 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—subsequently 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 BRAF V600E mutation was also detected—an 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.