RESUMO
OBJECTIVES: Myeloid/lymphoid neoplasms with FGFR1 rearrangement are a rare group of neoplasms that share features of eosinophilia and lineage promiscuity. First, we described a challenging case of acute leukemia with lineage switch and cytogenetically cryptic FGFR1. Second, we aimed to systemically review this phenomenon in published literature. METHODS: A 68-year-old man with a history of chemotherapy exposure presented with acute leukemia of myeloid lineage without eosinophilia or 8p11 abnormalities on karyotyping. Over a refractory and relapsing course, the blast phenotype shifted to B lymphoid. RESULTS: Fluorescence in situ hybridization identified a cytogenetically cryptic FGFR1 rearrangement, likely a paracentric inversion. We identified 26 published cases of FGFR1-rearranged acute leukemia with ambiguous, mixed, or switching lineage. Although there was variability in the partner gene, anatomical location of different phenotypes, and timing of lineage switch, the prognosis was consistently poor in the absence of novel therapy. CONCLUSIONS: Ours is the only reported case of FGFR1-rearranged neoplasms with a disease sequence of acute myeloid leukemia transforming to B-cell acute lymphoblastic leukemia and 1 of only 3 reported cases with cytogenetically cryptic FGFR1 rearrangement. Fluorescence in situ hybridization testing for FGFR1 rearrangement should be a standard investigation in leukemia of mixed or switching lineage.
Assuntos
Eosinofilia , Leucemia Mieloide Aguda , Masculino , Humanos , Idoso , Hibridização in Situ Fluorescente , Translocação Genética , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Doença Aguda , Eosinofilia/genética , Rearranjo Gênico , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genéticaRESUMO
A 72-year-old Caucasian lady with myeloproliferative disorder was admitted for evaluation of progressive dyspnoea, weight loss, fatigue and mild hypoxia. A diffuse ground glass opacity was seen on CT pulmonary angiogram. Differential diagnoses included heart failure, infection, progression of myeloproliferative disorder with extramedullary haematopoiesis, thromboembolism or hydroxyurea-induced lung injury. Bronchoscopy and broncho-alveolar lavage were uninformative however lung biopsy with video-assisted thoracoscopy revealed extramedullary haematopoiesis within lung parenchyma. This is a very rare complication of myeloproliferative disorder and the authors discuss the significance of the case, review the literature and report the patient's progress.