Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature

• Autor(a) principal: Wang,L.
• Data de Publicação: 2015
• Outros Autores: Du,F., Zhang,H.-M., Wang,H.-X.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Medical and Biological Research
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700583
• topic: Atypical chronic myeloid leukemia; SETBP1 mutation; Chronic neutrophilic leukemia; CSF3R mutation

We report the case of a father and son diagnosed with atypical chronic myeloid leukemia (aCML). Both patients harbored SETBP1 mutations, which are present in 24.3% of aCML patients. Moreover, both shared the variant encoding p.Pro737His, but the aCML severity was greater in the son because of the presence of two other missense mutations causing p.Asp868Asn and p.Ser885Arg alterations. SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.