Clinical and genetic features of a patient with myeloid neoplasm in association with PDGFRA and EVI1 gene rearrangements.
- VernacularTitle:一例伴有PDGFRA和EVI1重排的髓系肿瘤患者的临床和遗传学特征
- Author:
Wenmin HAN
1
;
Hongying CHAO
;
Min ZHOU
;
Ling CEN
;
Suning CHEN
;
Xuefeng HE
;
Xuzhang LU
Author Information
- Publication Type:Case Reports
- MeSH: Antineoplastic Agents; therapeutic use; Base Sequence; Chromosome Banding; Chromosomes, Human, Pair 3; genetics; Chromosomes, Human, Pair 5; genetics; DNA-Binding Proteins; genetics; Gene Rearrangement; Humans; Imatinib Mesylate; therapeutic use; In Situ Hybridization, Fluorescence; Karyotyping; MDS1 and EVI1 Complex Locus Protein; Male; Myeloproliferative Disorders; drug therapy; genetics; Proto-Oncogenes; genetics; Receptor, Platelet-Derived Growth Factor alpha; genetics; Transcription Factors; genetics; Translocation, Genetic; Treatment Outcome; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(1):93-97
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETodelineate the clinical and genetic features of a patient with myeloproliferative neoplasm (MPN) in association with PDGFRA and EVI1 genes rearrangements.
METHODSClinical data of the patient was collected. Conventional cytogenetics, fluorescence in situ hybridization (FISH) and nested PCR were carried out for the patient.
RESULTSThe patient has featured recurrent rash, joint pain, and intermittent fever. Laboratory tests showed hyperleukocytosis and marked eosinophilia. Physical examination revealed splenomegaly. His karyotype was 46,XY,t(3;5)(q26;q15)[6]/46,XY[10]. FISH assay showed that both PDGFRA and EVI1 genes were rearranged. Molecular studies of the mRNA suggested that there was a in-frame fusion between exon 12 of the PDGFRA gene and exon 9 of the FIP1L1 gene. Imatinib was initiated at a dosage of 200 mg, and after 10 months, the signal of the FIP1L1-PDGFRA fusion gene was undetectable in bone marrow sample. However, the expression of EVI1 mRNA was stable, with no significant difference found between the patient and 10 healthy controls.
CONCLUSIONMPN in association with PDGFRA and EVI1 genes rearrangements have unique clinical and genetic features. Genetic testing is helpful for early diagnosis. Imatinib may be effective for the treatment.
