Ocular infiltration as initial presentation of acute monocytic leukaemia transformed from chronic myelomonocytic leukaemia associated with BRAF V600E mutation.
BMJ Case Rep
; 12(3)2019 Mar 31.
Article
em En
| MEDLINE
| ID: mdl-30936351
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Retina
/
Doenças Retinianas
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Leucemia Mielomonocítica Crônica
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Transformação Celular Neoplásica
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Exoftalmia
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Leucemia Monocítica Aguda
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Infiltração Leucêmica
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Proteínas Proto-Oncogênicas B-raf
Tipo de estudo:
Risk_factors_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article