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OA

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.