Clinical and gene involved of one case of 8p11 myeloproliferative syndrome with ins(13;8)(q12;p11p23).
- Author:
Feng ZHOU
1
;
Suning CHEN
1
;
Hongying CHAO
1
;
Ri ZHANG
1
;
Min ZHOU
1
;
Jinlan PAN
1
Author Information
- Publication Type:Case Reports
- MeSH: Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 8; DNA-Binding Proteins; Exons; Humans; In Situ Hybridization, Fluorescence; Myeloproliferative Disorders; Receptor, Fibroblast Growth Factor, Type 1; Receptors, Fibroblast Growth Factor; Transcription Factors; Translocation, Genetic
- From: Chinese Journal of Hematology 2015;36(4):291-296
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.
METHODSWe reported here a 8p11 EMS case and provided more details on the clinical and molecular features of ins(13;8)(q12;p11p23)/ZNF198-FGFR1，full length ZNF198-FGFR1 was cloned by overlap extension PCR method，and the literatures on this topic were reviewed.
RESULTSClinically, the case with ins(13;8)(q12;p11p23)/ZNF198-FGFR1 had distinct hematological and clinical characteristics: hyperleukocytosis, myeloid hyperplasia，widespread adenopathy and lymphoma; Fluorescence in situ hybridization (FISH) disclosed the positive FGFR1 gene rearrangement; Further molecular studies confirmed a mRNA in-frame fusion between exon 17 of the ZNF198 gene and exon 9 of FGFR1 gene ，the full length ZNF198-FGFR1 was composed of a NH2 terminus of ZNF198 including the ZNF and proline-rich domains, whereas the COOH terminus of FGFR1 included 2 tyrosine kinase domains.
CONCLUSIONEMS with ins(13;8)(q12;p11p23)/ZNF198 -FGFR1 was a very rare， distinct myeloproliferative neoplasm, the fusion gene and chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.
