title: Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature.
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.
authors.affiliation: Department of Hematology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.affiliation: Tongji Medical College, Union Hospital, Department of Gastroenterology, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: F
authors.initials: F
authors.lastname: Du
authors.affiliation: Department of Hematology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: H-M
authors.initials: HM
authors.lastname: Zhang
authors.affiliation: Department of Hematology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: H-X
authors.initials: HX
authors.lastname: Wang
mesh_terms: D000328:Adult; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics
chemical_list: C517047:CSF3R protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D016184:Receptors, Colony-Stimulating Factor; C425066:SETBP1 protein, human