目的:报道异基因造血干细胞移植治愈2例罕见8p11骨髓增殖综合征患者。方法:总结2例8p11骨髓增殖综合征患者的临床、实验室特征及接受异基因造血干细胞移植治疗过程。结果:病例1,双侧颈部淋巴结肿大伴白细胞异常升高,骨髓增生极度活跃,骨髓细胞遗传学示46, XY, (8;13)(p11;q12)。淋巴结组织病理检查结果为外周T细胞淋巴瘤,非特指型。病例2,多发浅表淋巴结肿大伴血常规异常就诊,血白细胞明显升高伴血小板减少,骨髓增生极度活跃,骨髓细胞遗传学示t(8;9)(p11;q32),分子生物学检测CEP110FGFR1融合基因阳性,淋巴结活检为T淋巴母细胞性淋巴瘤。2例患者均行人类白细胞抗原(human leukocyte antigen,HLA)相合同胞异基因造血干细胞移植治疗,无病存活分别为移植后16年和6年。结论:异基因造血干细胞移植是治愈8p11骨髓增殖综合征的有效治疗选择。
To report 2 rare cases of 8p11 meyloproliferative syndrome cured by allogeneic hematopoietic stem cell transplantation. Methods: The clinical and laboratory features of 2 cases of 8p11 meyloproliferative syndrome were summarized, including the diagnosis and treatment process of allogeneic hematopoietic stem cell transplantation. Results: Patient 1 was presented with bilateral cervical lymphadenopathy and leukocytosis. The pathology of bone marrow showed extremely hyperplasia. The cytogenetic analysis showed a 46, XY, (8;13)(p11;q12) karyotype. The biopsy of the lymph node was peripheral T-cell lymphoma, unspecified. Patient 2 was presented with extensive lymphadenopathy with abnormal hemogram, which was leuekcytosis and thrombpenia. The bone marrow was hypercellular. The cytogenetic analysis on the bone marrow cells showed a translocation of t(8;9)(p11;q32). The CEP110-FGFR1 fusion transcript was detected by RT-PCR. The biopsy of the lymph node was T lymphoblastic lymphoma. These two patients received human leukocyte antigen (HLA)identical allogeneic hematopoietic stem cell transplantation, remained disease-free and survived 16 years and 6 years after transplantation, respectively. Conclusion: Allogeneic hematopoietic stem cell transplantation is the curative therapy for 8p11 meyloproliferative syndrome.