广西医科大学学报2026，Vol.43Issue(4)：480-487,8.DOI:10.16190/j.cnki.45-1211/r.2026.04.004
重型β-地中海贫血合并8p11骨髓增殖综合征1例并文献复习
β-Thalassemia major complicated by 8p11 myeloproliferative syndrome:a case report and literature review
摘要
Abstract
β-Thalassemia is an inherited hemolytic anemia caused by defects in the β-globin gene.β-Thalasse-mia major results from homozygous or compound heterozygous β⁰ or β⁺ mutations.The 8p11 myeloproli-ferative syndrome(EMS)is a myeloproliferative neoplasm associated with gene translocation of fibroblast growth factor receptor 1(FGFR1)on the short arm of chromosome 8(8p11).BCR-FGFR1 represents a specific fusion gene sub-type of this syndrome,which tends to progress to leukemia with a poor prognosis.Allogeneic hematopoietic stem cell transplantation(allo-HSCT)is currently the only therapeutic approach expected to achieve long-term remis-sion.This article reports,for the first time in the world,a case of pediatric EMS arising in the context of β-thalas-semia major.The patient developed EMS driven by the BCR-FGFR1 fusion gene.Conventional cytogenetic analysis revealed,for the first time,an atypical translocation,t(8;21)(p11.2;q11.2),accompanied by a secondary deletion del(22)(q13).Although BCR-FGFR1 fusions have been well documented,this precise molecular configu-ration and its associated cytogenetic background have not been described to date.Given the lack of established therapeutic experience in patients with concurrent β-thalassemia major and EMS,strategies were formulated in line with mainstream international regimens and current clinical guidelines.The patient received intensive chemo-therapy combined with early allo-HSCT,resulting in gradual clinical improvement.At 47 months post-transplantation,the patient remains in good general condition.The findings of this study expand the molecular spectrum of FGFR1-driven neoplasms and provide novel clinical insights into the management of thalassemia complicated with hematologic malignancies.Furthermore,we review potential mechanisms underlying the de-velopment of hematological malignancies in thalassemia major patients and underscore the pivotal role of high-resolution genomic profiling and allo-HSCT in achieving durable remission.关键词
重型β-地中海贫血/8p11骨髓增殖综合征/造血干细胞移植/成纤维细胞生长因子受体1/RhoGEF结构域/荧光原位杂交/下一代测序Key words
β-thalassemia major/8p11 myeloproliferative syndrome/hematopoietic stem cell transplantation/FGFR1/RhoGEF domain/fluorescence in situ hybridization/next-generation sequencing分类
医药卫生引用本文复制引用
龚建铭,何云燕,贾文广,罗建明..重型β-地中海贫血合并8p11骨髓增殖综合征1例并文献复习[J].广西医科大学学报,2026,43(4):480-487,8.基金项目
国家自然科学基金资助项目(82060578) （82060578）
国家卫生健康委员会地中海贫血防治重点实验室开放课题资助项目(GJWJWDP202205) （GJWJWDP202205）
