[Clinical and Gene Involved of One Case of 8p11 Myeloproliferative Syndrome with Ins(13;8)(q12;p11p23)]

Overview

Journal Zhonghua Xue Ye Xue Za Zhi

Specialty Hematology

Date 2015 Apr 29

PMID 25916288

Citations 3

Authors

Feng Zhou

Suning Chen

Hongying Chao

Ri Zhang

Min Zhou

Jinlan Pan

Affiliations

Soon will be listed here.

Abstract

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.

Conclusion: 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.

Citing Articles

Myeloid/lymphoid neoplasms with eosinophilia and FGFR1 rearrangement t(8;13)(p11;q12): A case report and literature review.

Guo Y, Ma M, Tian T, Zhang J, Guo X, Qiao S Oncol Lett. 2024; 28(4):468.

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The 8p11 myeloproliferative syndrome: Genotypic and phenotypic classification and targeted therapy.

Li T, Zhang G, Zhang X, Lin H, Liu Q Front Oncol. 2022; 12:1015792.

PMID: 36408177 PMC: 9669583. DOI: 10.3389/fonc.2022.1015792.

[Clinical and molecular features of one case of 8p11 myeloproliferative syndrome with t(8;17) (p11; q24)].

Zhang X, Chen M, Chao H, Liu J, Chen S, Zhang R Zhonghua Xue Ye Xue Za Zhi. 2019; 39(12):1036-1039.

PMID: 30612409 PMC: 7348216. DOI: 10.3760/cma.j.issn.0253-2727.2018.12.014.

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