RESUMEN
Initially classified in the myelodysplastic syndromes (MDSs), chronic myelomonocytic leukemia (CMML) is currently considered as a MDS/myeloproliferative neoplasm. Two classes-myelodysplastic and myeloproliferative-have been distinguished upon the level of the white blood cell count (threshold 13 G/L). We analyzed mutations in 19 genes reported in CMML to determine if and how these mutations impacted the respective prognosis of the two classes. We defined four major mutated pathways (DNA methylation, ASXL1, splicing, and signaling) and determined their prognostic impact. The number of mutated pathways impacted overall survival in the myelodysplastic class but not in the myeloproliferative class. The myeloproliferative class had a worse prognosis than the myelodysplastic class and was impacted by RUNX1 mutations only. Our results argue for a reclassification of CMML based on the myelodysplastic/myeloproliferative status.
Asunto(s)
Leucemia Mielomonocítica Crónica/genética , Mutación , Síndromes Mielodisplásicos/genética , Trastornos Mieloproliferativos/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Supervivencia sin Enfermedad , Humanos , Leucemia Mielomonocítica Crónica/clasificación , Pronóstico , Análisis de SupervivenciaRESUMEN
Inflammatory myopathy is a major clinical manifestation of the antisynthetase syndrome. Patients with anti Jo-1 antibodies can also present with other clinical manifestations as arthritis, mechanic's hands and lung fibrosis. As in dermatomyositis, polymyositis and overlap myopathies proximal muscle of the limbs are preferentialy involved. Associated fascia edema on magnetic resonance imagery studies with histological proven fasciitis has been reported. However peripheral limb involvement, reported here in two patients, as the isolated initial manifestation is unusual.