BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HS...BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.展开更多
Dear Editor,X-linked sideroblastic anemia(XLSA),which is the most common genetic form of congenital sideroblastic anemia,is typically characterized by reduced heme synthesis and the presence of bone marrow(BM)ring sid...Dear Editor,X-linked sideroblastic anemia(XLSA),which is the most common genetic form of congenital sideroblastic anemia,is typically characterized by reduced heme synthesis and the presence of bone marrow(BM)ring sideroblasts containing pathologic iron deposits in the mitochondria.展开更多
BACKGROUND Previous cases that have been stated in this article have displayed that around 1%to 7%of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrom...BACKGROUND Previous cases that have been stated in this article have displayed that around 1%to 7%of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrome or acute myeloid leukemia.One can see that’s why this case presentation of a 60-year-old man that had a good response to acute promyelocytic leukemia treatment,that later presented with a central nervous system recurrence of acute promyelocytic leukemia and acquired sideroblastic anemia(a form of myelodysplasia)from treatment is a unique case report.CASE SUMMARY The presence of central nervous system relapse in acute promyelocytic leukemia patients is very unlikely compared to recurring mainly in the bone marrow.It is also uncommon to be diagnosed with sideroblastic anemia(form of myelodysplastic syndrome)as a result from treatment for acute promyelocytic leukemia.This case report highlights the detection,treatment/maintenance with idarubicin,all-trans-retinoic-acid,arsenic trioxide,methotrexate,6-mercaptopurine,and ommaya reservoir intrathecal methotrexate administration in a patient that had central nervous system relapse of acute promyelocytic leukemia and acquired sideroblastic anemia.CONCLUSION In essence,first time relapse concerning the central nervous system in treated acute promyelocytic leukemia patients who had a good response to therapy is very uncommon.The acquirement of a myelodysplastic syndrome such as ringed sideroblastic anemia is also rare regarding this patient population.Although such cases are infrequent,this case report represents a unique insight of the detection,treatment,and maintenance of a 60-year-old man diagnosed with acute promyelocytic leukemia,resulting in the acquirement of sideroblastic anemia and central nervous system relapse.展开更多
基金National Natural Science Foundation of China,No.81890992.
文摘BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
基金This work was supported by grants from the Ministry of Science and Technology of China(2019YFA0110803)the CAMS Innovation Fund for Medical Sciences(2016-I2M-1-002 and 2019-12M-1-006)the National Nature Science Foundation of China(81890992,81670112 and 81770175,82070201).
文摘Dear Editor,X-linked sideroblastic anemia(XLSA),which is the most common genetic form of congenital sideroblastic anemia,is typically characterized by reduced heme synthesis and the presence of bone marrow(BM)ring sideroblasts containing pathologic iron deposits in the mitochondria.
文摘BACKGROUND Previous cases that have been stated in this article have displayed that around 1%to 7%of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrome or acute myeloid leukemia.One can see that’s why this case presentation of a 60-year-old man that had a good response to acute promyelocytic leukemia treatment,that later presented with a central nervous system recurrence of acute promyelocytic leukemia and acquired sideroblastic anemia(a form of myelodysplasia)from treatment is a unique case report.CASE SUMMARY The presence of central nervous system relapse in acute promyelocytic leukemia patients is very unlikely compared to recurring mainly in the bone marrow.It is also uncommon to be diagnosed with sideroblastic anemia(form of myelodysplastic syndrome)as a result from treatment for acute promyelocytic leukemia.This case report highlights the detection,treatment/maintenance with idarubicin,all-trans-retinoic-acid,arsenic trioxide,methotrexate,6-mercaptopurine,and ommaya reservoir intrathecal methotrexate administration in a patient that had central nervous system relapse of acute promyelocytic leukemia and acquired sideroblastic anemia.CONCLUSION In essence,first time relapse concerning the central nervous system in treated acute promyelocytic leukemia patients who had a good response to therapy is very uncommon.The acquirement of a myelodysplastic syndrome such as ringed sideroblastic anemia is also rare regarding this patient population.Although such cases are infrequent,this case report represents a unique insight of the detection,treatment,and maintenance of a 60-year-old man diagnosed with acute promyelocytic leukemia,resulting in the acquirement of sideroblastic anemia and central nervous system relapse.
