[Clinical and gene involved of one case of 8p11 myeloproliferative syndrome with ins(13;8)(q12;p11p23)].
OBJECTIVE
To improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.


METHODS
We 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.


RESULTS
Clinically, 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.


CONCLUSIONS
EMS 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.
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Feng
F
Zhou
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Suning
S
Chen
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Hongying
H
Chao
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Ri
R
Zhang
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Min
M
Zhou
Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical University, Changzhou 213003, China.
Jinlan
J
Pan
D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D004268:DNA-Binding Proteins; D005091:Exons; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009196:Myeloproliferative Disorders; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor; D014157:Transcription Factors; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; D017468:Receptors, Fibroblast Growth Factor; D014157:Transcription Factors; C111777:ZMYM2 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1