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目的总结胸腺瘤相关纯红细胞再生障碍性贫血(PRCA)进展为极重型再生障碍性贫血(VSAA)的诊断及治疗经验。方法回顾性分析1例胸腺瘤相关PRCA进展为VSAA患者的临床资料，并结合相关文献分析其诊疗过程。结果 患者男，35岁，因乏力1月余伴发热入院。血红蛋白29g/L，网织红细胞绝对计数5×109/L；骨髓检查示红系细胞少见，粒系及巨核系增生，形态大致正常；胸部CT示右前上纵隔占位，术后病理诊断为AB型胸腺瘤，结合临床及实验室检查诊断为胸腺瘤相关PRCA。胸腺瘤切除后，先后给予环孢素、他克莫司、西罗莫司等免疫抑制治疗，患者血红蛋白曾短暂升高，但未获得持续血液学缓解。2024年2月17日患者出现全血细胞减少，中性粒细胞计数0.04×109/L、血小板计数5×109/L，骨髓增生明显减低，诊断为VSAA。随后接受以其兄长为亲缘半相合供者的异基因外周血造血干细胞移植，移植后第14天供者嵌合率达100%，第10天和第30天分别实现粒细胞和血小板植入。移植后发生严重感染及肾功能不全等并发症，经治疗后缓解。末次随访时间为2025年6月2日，患者白细胞计数9.61×109/L、血红蛋白146g/L、血小板计数142×109/L，已脱离红细胞及血小板输注。结论 胸腺瘤相关PRCA可罕见进展为VSAA，诊疗过程中应动态监测各系血细胞及骨髓造血变化。对于既往免疫抑制治疗未获得持续缓解、符合移植条件且具备合适供者的患者，异基因造血干细胞移植可能是实现持续造血重建的治疗选择。
Abstract：Objective To summarise our experience in the diagnosis and treatment of thymoma-associated pure red cell aplasia (PRCA) progressing to very severe aplastic anaemia (VSAA). Methods We conducted a retrospective analysis of the clinical data of a patient with thymoma-associated PRCA that progressed to VSAA， and analysed the diagnostic and therapeutic process in conjunction with relevant literature. Results The patient was a 35-year-old man admitted to hospital with fatigue lasting over one month， accompanied by fever. Haemoglobin was 29 g/L， and the absolute reticulocyte count was 5 × 10?/L; bone marrow examination revealed few erythroid cells， with hyperplasia of the myeloid and megakaryocytic lineages， and generally normal morphology; chest CT showed a mass in the right anterosuperior mediastinum， which was pathologically diagnosed post-operatively as a type AB thymoma; based on clinical and laboratory findings， a diagnosis of thymoma-associated PRCA was made. Following resection of the thymoma， the patient received immunosuppressive therapy with cyclosporine， tacrolimus and sirolimus in succession; although the patient’s haemoglobin levels rose briefly， no sustained haematological remission was achieved. On 17 February 2024， the patient developed pancytopenia， with a neutrophil count of 0.04 × 10?/L and a platelet count of 5 × 10?/L; bone marrow proliferation was markedly reduced， and a diagnosis of VSAA was made. The patient subsequently underwent allogeneic peripheral blood haematopoietic stem cell transplantation from a half-matched sibling donor. On day 14 post-transplantation， the donor chimerism rate reached 100 per cent， with granulocyte engraftment and platelet engraftment achieved on days 10 and 30， respectively. Post-transplantation complications， including severe infection and renal insufficiency， occurred but resolved following treatment. At the time of the last follow-up on 2 June 2025， the patient’s white blood cell count was 9.61 × 10?/L， haemoglobin was 146 g/L， and platelet count was 142 × 10?/L; the patient was no longer requiring red blood cell or platelet transfusions. Conclusion Thymoma-associated PRCA may， in rare cases， progress to VSAA; dynamic monitoring of blood cell lineages and haematopoietic changes in the bone marrow is therefore essential during diagnosis and treatment. For patients who have not achieved sustained remission with prior immunosuppressive therapy， who meet the criteria for transplantation and have a suitable donor， allogeneic haematopoietic stem cell transplantation may be a therapeutic option for achieving sustained haematopoietic reconstitution.
[1] MEANS R T JR. Pure red cell aplasia[J]. Blood， 2016，128(21):2504-2509.
[2] 付蓉，王婷.再生障碍性贫血诊断与治疗中国指南(2022年版)解读[J].中华血液学杂志，2023，44(3):188-192.
[3] MARX A， HOHENBERGER P， HOFFMANN H， et al. The autoimmune regulator AIRE in thymoma biology: autoimmunity and beyond[J]. J Thorac Oncol， 2010，5(10 Suppl 4):266-272.
[4] WEKSLER B， LU B. Alterations of the immune system in thymic malignancies[J]. J Thorac Oncol， 2014，9(9 Suppl 2):137-142.
[5] HISHIDA T， ASAMURA H， YOSHIDA K， et al. Clinical features and prognostic impact of coexisting autoimmune disease other than myasthenia gravis in resected thymomas: analysis of a Japanese multi-institutional retrospective database[J]. Eur J Cardiothorac Surg， 2021，59(3):641-649.
[6] LIU M， HE X， ZHANG H， et al. Aberrant hematopoiesis and CD8+ T-cell activation in thymoma-associated pure red cell aplasia[J]. Thorac Cancer， 2025，16(6):e70046.
[7] KAWAKAMI F， KAWAKAMI T， YAMANE T， et al. T cell clonal expansion and STAT3 mutations: a characteristic feature of acquired chronic T cell-mediated pure red cell aplasia[J]. Int J Hematol， 2022，115(6):816-825.
[8] LESIRE B， DURIEUX V， GRIGORIU B， et al. Management of thymoma-associated autoimmune pure red cell aplasia: case report and systematic review of the literature[J]. Lung Cancer， 2021，157:131-146.
[9] GOOD R A， VARCO R L. A clinical and experimental study of agammaglobulinemia[J]. J Lancet， 1955，75(6):245-271.
[10] KABIR A， ALIZADEHFAR R， TSOUKAS C M. Good's syndrome: time to move on from reviewing the past[J]. Front Immunol， 2022，12:815710.
[11] SUZUKI M， WATARI T. Thymoma-associated pure red cell aplasia following femoral neck fracture[J]. Cureus， 2022，14(2):e21836.
[12] MURATORI L， DELCURATOLO M D， SPERONE P， et al. Discrepancy between tumor response and hematologic response in a patient with thymoma and aplastic anemia treated with ciclosporin[J]. Mediastinum， 2020，4:8.
[13] SEZAKI M， HAYASHI Y， WANG Y， et al. Immuno-modulation of hematopoietic stem and progenitor cells in inflammation[J]. Front Immunol， 2020，11:585367.
[14] LONG Z， LI H， DU Y， et al. Gene mutation profile in patients with acquired pure red cell aplasia[J]. Ann Hematol， 2020，99(8):1749-1754.
[15] ZIELI?SKA P， NOSTER I， WIECZORKIEWICZ-KABUT A， et al. Allogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience[J]. Pol Arch Intern Med， 2023，133(7-8):16448.
[16] SHEN Y， LI Y， LIU Q， et al. Comparison of anti-thymocyte globulin-based immunosuppressive therapy and allogeneic hematopoietic stem cell transplantation in patients with transfusion-dependent non-severe aplastic anaemia: a retrospective study from a single centre[J]. Ann Med， 2023，55(2):2271475.
[17] CHEN J， ZHANG Y， CHEN X， et al. Comparison of porcine ALG and rabbit ATG on outcomes of HLA-haploidentical hematopoietic stem cell transplantation for patients with acquired aplastic anemia[J]. Cancer Cell Int， 2022，22(1):89.
[18] KULASEKARARAJ A， CAVENAGH J， DOKAL I， et al. Guidelines for the diagnosis and management of adult aplastic anaemia: a British Society for Haematology guideline[J]. Br J Haematol， 2024，204(3):784-804.
[19] ZHANG X H， CHEN J， HAN M Z， et al. The consensus from the Chinese Society of Hematology on indications， conditioning regimens and donor selection for allogeneic hematopoietic stem cell transplantation: 2021 update[J]. J Hematol Oncol， 2021，14(1):145.
[20] XU L， CHEN H， CHEN J， et al. The consensus on indications， conditioning regimen， and donor selection of allogeneic hematopoietic cell transplantation for hematological diseases in China: recommendations from the Chinese Society of Hematology[J]. J Hematol Oncol， 2018，11(1):33.
[21] SIMKINS A， MAITI A， SHORT N J， et al. Acquired amegakaryocytic thrombocytopenia and red cell aplasia in a patient with thymoma progressing to aplastic anemia successfully treated with allogenic stem cell transplantation[J]. Hematol Oncol Stem Cell Ther， 2019，12(2):115-118.
基本信息:
中图分类号:R556.5;R736.3
引用信息:
[1]王猛,孙丽敏,刘双,等.1例胸腺瘤相关纯红细胞再生障碍性贫血进展为极重型再生障碍性贫血的诊断与治疗[J].山东医药().
基金信息:
山东省医药卫生科技重点项目（202403040826）
2026-08-05
2026-08-05
2026-08-05