罕见表型的8p11骨髓增殖综合征的特征

目的:提高对罕见表型的8p11骨髓增殖综合征(eight p11 myeloproliferative syndrome,EMS)临床表现、实验室检查特征、诊断及治疗的认识。方法:总结1例罕见累及T/B/髓三系的EMS病例临床、实验室特征及接受异基因造血干细胞移植治疗过程,同时结合既往文献报道的2例类似病例进行讨论。结果:患者骨髓检查表现为急性B淋巴细胞白血病,淋巴结活检提示T淋母/髓系双表型淋巴瘤,骨髓染色体检查发现8p11异常,RT-PCR检查提示BCR-ABL融合基因阴性,淋巴结FGFR1探针FISH提示存在FGFR1断裂,全外显子测序提示,FMNL3、NBPF1及RUNX1基因存在突变,患者在CR2状态下接受同胞全相合异基因造血干细胞移植(allogeneic hematopoietic stem cell transplantation,allo-HSCT),随访至2019年9月,患者仍无病存活。结论:EMS同时出现T系、B系及髓系的受累极其罕见,虽然可以进行针对FGFR1基因进行靶向治疗,但仍需积极考虑allo-HSCT。

Characteristic of 8p11 Myeloproliferative Syndrome with Rare Phenotype

Objective:To deeply understand the clinical manifestation,laboratory examination characteristics,diagnosis and treatment of an eight p11 myeloproliferative syndrome(EMS)with rare phenotypes.Methods:The clinical and laboratory characteristics and the process of allogeneic hematopoietic stem cell transplantation(allo-HSCT)were summarized in 1 rare EMS case involving T/B/myeloid cells.Meanwhile,2 similar cases in the previous literature were also discussed.Results:The bone marrow examination indicated that the patient with B-cell acute lymphocytic leukemia.The lymph node biopsy showed that the patient was T lymphoblastic/myeloid lymphoma.The 8p11 abnormality was found by the examination of bone marrow chromosomes.The RT-PCR examination showed that the BCR-ABL fused gene was negtive.The FGFR1 breakage was found by using the FISH with FGFR1 probe in lymph node.The Mutation of FMNL3,NBPF1 and RUNX1 genes was found by using the whole exome sequencing.The patient received allo-HSCT under CR2.By the follow-up till to September 2019,the patient survived without the above-mentioned disease.Conclusion:EMS manifest as neoplasms involving T-lineage,B-lineage,and myeloid-lineage simultaneously is extremely rare.Although the FGFR1 gene-targeted therapy can be conducted,allo-HSCT should be actively considered.