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
in English
| LILACS
| ID: lil-751347
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.
Full text:
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Index:
LILACS (Americas)
Main subject:
Placenta
/
Placenta Diseases
/
Chromosome Aberrations
/
Genomic Imprinting
/
Reproductive Techniques, Assisted
/
Embryo Culture Techniques
Type of study:
Incidence study
/
Prognostic study
Limits:
Animals
/
Pregnancy
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2015
Type:
Article
Affiliation country:
China
Institution/Affiliation country:
Huazhong University of Science and Technology/CN
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