RESUMO
Erythroid sarcoma is a very rare subtype of myeloid sarcoma with undetermined biological features. Here, we present an infant with a multifocal erythroid sarcoma, diagnosed because the tumor cells were positive for glycophorin A. After acute myeloid leukemia-oriented chemotherapy and surgical resection followed by cord blood transplantation, he has successfully maintained complete remission without any late effects. Total transcriptome analysis of the tumor identified a novel fusion gene, RCC1-LCK, and high LCK expression levels, suggesting that LCK overexpression was involved in leukemogenesis in this case.
Assuntos
Leucemia Mieloide Aguda , Proteína Tirosina Quinase p56(lck) Linfócito-Específica/genética , Sarcoma Mieloide , Sarcoma , Proteínas de Ciclo Celular , Fatores de Troca do Nucleotídeo Guanina , Humanos , Lactente , Leucemia Mieloide Aguda/genética , Masculino , Proteínas Nucleares , Sarcoma Mieloide/genéticaRESUMO
Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.