8p11 myeloproliferative syndrome with CEP110-FGFR1 fusion in a patient.
10.3760/cma.j.issn.1003-9406.2015.05.015
- Author:
Hongying CHAO
1
;
Suning CHEN
;
Min ZHOU
;
Xuzhang LU
;
Xiuwen ZHANG
;
Jinlan PAN
;
Chunxiao WU
;
Ri ZHANG
Author Information
1. Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Department of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. China. Email: zhangri@medmail.com.cn.
- Publication Type:Case Reports
- MeSH:
Cell Cycle Proteins;
genetics;
Chromosomes, Human, Pair 8;
Female;
Humans;
Middle Aged;
Myeloproliferative Disorders;
genetics;
Oncogene Proteins, Fusion;
genetics;
Receptor, Fibroblast Growth Factor, Type 1;
genetics
- From:
Chinese Journal of Medical Genetics
2015;32(5):679-682
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion. METHODS Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient. RESULTS Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia. Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive. Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene. CONCLUSION EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm. FISH and molecular studies may improve its diagnosis.
