Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature
Braz. j. med. biol. res
; 48(7): 583-587, 07/2015. tab, graf
Article
em En
| LILACS
| ID: lil-751347
Biblioteca responsável:
BR1.1
ABSTRACT
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.
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Texto completo:
1
Índice:
LILACS
Assunto principal:
Placenta
/
Doenças Placentárias
/
Aberrações Cromossômicas
/
Impressão Genômica
/
Técnicas de Reprodução Assistida
/
Técnicas de Cultura Embrionária
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
Limite:
Animals
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Pregnancy
Idioma:
En
Revista:
Braz. j. med. biol. res
Assunto da revista:
BIOLOGIA
/
MEDICINA
Ano de publicação:
2015
Tipo de documento:
Article