The 8p11 myeloproliferative syndrome (EMS), a rare myeloproliferative disease, generally progresses rapidly and is characterized by chromosomal translocations of the fibroblast growth factor receptor 1 (FGFR1) gene. The FGFR1 gene is located at chromosome 8p11 and may fuse with distinct partner genes. The breakpoint cluster region gene located at chromosome 22 is one of these partner genes. The patients' clinical phenotype is primarily dependant on the partner gene that translocates with FGFR1. Of all the available examinations, determination of the chromosome karyotype is most essential for the diagnosis of EMS. In addition, regarding treatment, allogeneic hematopoietic stem cell transplantation is currently the optimal method. The present study presented a case of 8p11 myeloproliferative syndrome with t(8;22)(p11;q11). This represents a total of 8 and 11 chromosomal translocations, which form a BCR/FGFR1 fusion gene in the patient to produce the abnormal karyotype: 46,XY,t(8;22)(p11;q11). The difference between the current case and other EMS incidences is that the patient progressed slowly and the clinical manifestation was similar to chronic myeloid leukemia (CML).
第一作者单位:[1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Hematol, 1905 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China
通讯作者:
推荐引用方式(GB/T 7714):
Liu Jing Jing,Meng Li.8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report[J].EXPERIMENTAL AND THERAPEUTIC MEDICINE.2018,16(2):1449-1453.doi:10.3892/etm.2018.6328.
APA:
Liu, Jing Jing&Meng, Li.(2018).8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report.EXPERIMENTAL AND THERAPEUTIC MEDICINE,16,(2)
MLA:
Liu, Jing Jing,et al."8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report".EXPERIMENTAL AND THERAPEUTIC MEDICINE 16..2(2018):1449-1453