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Favorable Response to Immunosuppressive Therapy in Severe Aplastic Anemia With Trisomy 8 and BCOR Mutation: Sustained
Mengzhu Shen1, Yan Wei1, Bo Shao2
1Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Cell and Gene Therapy for Hematologic Malignancies, Collaborative Innovation Center of Hematology Peking University Beijing China.
Severe aplastic anemia (SAA) is a serious medical condition that is characterized by its abrupt onset, rapid progression of the disease, and alarmingly high mortality rate, making it a significant concern in the field of hematology. Intensive immunosuppressive therapy (IST) is one of the primary therapeutic options; however, some SAA patients do not respond to initial IST treatment. For these patients, salvage treatment remains a significant challenge. Consequently, predicting the efficacy of IST for SAA at initial diagnosis and developing the optimal curative regimen could potentially enhance treatment outcomes. The concurrent presence of trisomy 8 and a BCL6 corepressor (BCOR) mutation in SAA is uncommon and may independently predict the efficacy of IST. In this case report, we presented a SAA patient exhibiting both trisomy 8 and a BCOR mutation at diagnosis. The bone marrow (BM) aspirate showed hypocellular BM and the bone marrow biopsy revealed a severe hypocellular bone marrow (15% cellularity). The patient experienced rapid clinical improvement, evidenced by reduced transfusion requirements and a favorable response to IST. Approximately two year's post-IST, a follow-up biopsy indicated remission, with the volume of hematopoietic tissue increasing to 40%. Cytogenetic analysis showed a normal karyotype, and no BCOR mutation was detected by next-generation sequencing (NGS). Complete blood cell count results also showed improvement. In conclusion, we are the first to report a rare case of SAA characterized by the simultaneous presence of chromosome 8 abnormality and BCOR mutation in detail, which may represent a new distinct entity in SAA.
Severe aplastic anemia (SAA) is a serious medical condition that is characterized by its abrupt onset, rapid progression of the disease, and alarmingly high mortality rate, making it a significant concern in the field of hematology. Intensive immunosuppressive therapy (IST) is one of the primary therapeutic options; however, some SAA patients do not respond to initial IST treatment. For these patients, salvage treatment remains a significant challenge. Consequently, predicting the efficacy of IST for SAA at initial diagnosis and developing the optimal curative regimen could potentially enhance treatment outcomes. The concurrent presence of trisomy 8 and a BCL6 corepressor (BCOR) mutation in SAA is uncommon and may independently predict the efficacy of IST. In this case report, we presented a SAA patient exhibiting both trisomy 8 and a BCOR mutation at diagnosis. The bone marrow (BM) aspirate showed hypocellular BM and the bone marrow biopsy revealed a severe hypocellular bone marrow (15% cellularity). The patient experienced rapid clinical improvement, evidenced by reduced transfusion requirements and a favorable response to IST. Approximately two year's post-IST, a follow-up biopsy indicated remission, with the volume of hematopoietic tissue increasing to 40%. Cytogenetic analysis showed a normal karyotype, and no BCOR mutation was detected by next-generation sequencing (NGS). Complete blood cell count results also showed improvement. In conclusion, we are the first to report a rare case of SAA characterized by the simultaneous presence of chromosome 8 abnormality and BCOR mutation in detail, which may represent a new distinct entity in SAA.
