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8p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report

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单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Hematol, 1905 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China
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关键词: 8p11 myeloidproliferative syndrome fibroblast growth factor receptor 1 chronic myeloid leukemia

摘要:
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).

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出版当年[2017]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
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出版当年[2016]版:
Q4 MEDICINE, RESEARCH & EXPERIMENTAL
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Q3 MEDICINE, RESEARCH & EXPERIMENTAL

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第一作者单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Hematol, 1905 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China
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