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Title: | Ocular infiltration as initial presentation of acute monocytic leukaemia transformed from chronic myelomonocytic leukaemia associated with BRAF V600E mutation. | Authors: | Grigoriadis G. ;Tedjaseputra A. ;Vilcassim F.S. | Institution: | (Tedjaseputra, Vilcassim, Grigoriadis) Department of Clinical Haematology, Monash Health, Clayton, VIC, Australia (Vilcassim, Grigoriadis) Immunohaematology Laboratory, Centre for Cancer Research, Hudson Institute of Medical Research, Melbourne, VIC, Australia | Issue Date: | 12-Apr-2019 | Copyright year: | 2019 | Publisher: | BMJ Publishing Group (E-mail: subscriptions@bmjgroup.com) | Place of publication: | United Kingdom | Publication information: | BMJ Case Reports. 12 (3) (no pagination), 2019. Article Number: e228519. Date of Publication: 01 Mar 2019. | Journal: | BMJ Case Reports | 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.Copyright © BMJ Publishing Group Limited 2019. | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1136/bcr-2018-228519 | PubMed URL: | 30936351 [http://www.ncbi.nlm.nih.gov/pubmed/?term=30936351] | ISSN: | 1757-790X (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/35712 | Type: | Article | Subjects: | crackle/di [Diagnosis] cytogenetics differential diagnosis disease course endocrine ophthalmopathy/di [Diagnosis] *exophthalmos human human cell human tissue immunoglobulin G4 related disease/di [Diagnosis] leukemic infiltration leukocyte differential count lymphocyte transformation male monocytosis/di [Diagnosis] mutational analysis nasal biopsy neutrophilia/di [Diagnosis] nuclear magnetic resonance imaging patient referral plasma cell granuloma/di [Diagnosis] priority journal thrombocytopenia/di [Diagnosis] treatment outcome treatment response tumor invasion azacitidine/dt [Drug Therapy] *B Raf kinase/ec [Endogenous Compound] corticosteroid derivative/dt [Drug Therapy] D dimer/ec [Endogenous Compound] *glutamic acid/ec [Endogenous Compound] hydroxyurea/dt [Drug Therapy] clinical article prednisolone/dt [Drug Therapy] thyrotropin/ec [Endogenous Compound] *valine/ec [Endogenous Compound] *acute monocytic leukemia/di [Diagnosis] *acute monocytic leukemia/dt [Drug Therapy] *acute monocytic leukemia/et [Etiology] aged anemia/di [Diagnosis] anorexia article cancer classification case report *chronic myelomonocytic leukemia/di [Diagnosis] *chronic myelomonocytic leukemia/et [Etiology] clinical feature cytogenetics differential diagnosis disease course endocrine ophthalmopathy / diagnosis *exophthalmos human human cell human tissue immunoglobulin G4 related disease / diagnosis leukemic infiltration leukocyte differential count lymphocyte transformation male monocytosis / diagnosis mutational analysis nasal biopsy neutrophilia / diagnosis nuclear magnetic resonance imaging patient referral plasma cell granuloma / diagnosis priority journal thrombocytopenia / diagnosis anemia / diagnosis treatment response tumor invasion aged *acute monocytic leukemia / *diagnosis / *drug therapy / *etiology treatment outcome anorexia Article cancer classification case report *chronic myelomonocytic leukemia / *diagnosis / *etiology clinical article clinical feature crackle / diagnosis |
Type of Clinical Study or Trial: | Case series or case report |
Appears in Collections: | Articles |
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