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Ocular infiltration as initial presentation of acute monocytic leukaemia transformed from chronic myelomonocytic leukaemia associated with BRAF V600E mutation
  1. Aditya Tedjaseputra1,
  2. Fathima Shahla Vilcassim1,2 and
  3. George Grigoriadis1,2
  1. 1 Department of Clinical Haematology, Monash Health, Clayton, Victoria, Australia
  2. 2 Immunohaematology Laboratory, Centre for Cancer Research, Hudson Institute of Medical Research, Melbourne, Victoria, Australia
  1. Correspondence to Dr Aditya Tedjaseputra, aditya.tedjaseputra{at}


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.

  • haematology (incl blood transfusion)
  • pathology
  • carcinogenesis

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  • Contributors AT, FSV and GG were directly involved in the care of the patient; AT performed literature review and drafted the manuscript, FSV and GG reviewed the manuscript; AT, FSV and GG approved the final version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.