Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia
Severe congenital neutropenia (SCN) is characterized by chronic neutropenia with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patient...
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MDPI AG
2024-02-01
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| Series: | Hematology Reports |
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| Online Access: | https://www.mdpi.com/2038-8330/16/1/10 |
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| author | Risa Matsumura Shinji Mochizuki Yusuke Morishita Hiroko Hayakawa Shuhei Karakawa Hiroshi Kawaguchi Satoshi Okada Nobuyuki Hyakuna Masao Kobayashi |
| author_facet | Risa Matsumura Shinji Mochizuki Yusuke Morishita Hiroko Hayakawa Shuhei Karakawa Hiroshi Kawaguchi Satoshi Okada Nobuyuki Hyakuna Masao Kobayashi |
| author_sort | Risa Matsumura |
| collection | DOAJ |
| description | Severe congenital neutropenia (SCN) is characterized by chronic neutropenia with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with SCN who develop myelodysplastic syndrome/AML. We report an 8-year-old girl with SCN carrying an <i>ELANE</i> mutation that had been refractory to granulocyte colony-stimulating factor. The patient experienced recurrent infections and then developed AML. The counts of leukemic blasts that harbored both <i>CSF3R</i> and <i>RUNX1</i> mutations spontaneously decreased with antimicrobial therapy, leading to partial remission. After AML recurrence, HSCT was successfully performed using modified chemotherapy and a conditioning regimen. Serial donor lymphocyte infusions against mixed chimerism induced complete donor chimerism over 4 years without any infections or AML relapse. This case suggests the importance of carefully managing neutropenia-related infections, leukemia progression, and HSCT in patients with SCN developing AML. |
| first_indexed | 2024-04-24T18:13:56Z |
| format | Article |
| id | doaj.art-cc4d307e65b14e40a5852c64eadf6211 |
| institution | Directory Open Access Journal |
| issn | 2038-8330 |
| language | English |
| last_indexed | 2024-04-24T18:13:56Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-cc4d307e65b14e40a5852c64eadf62112024-03-27T13:43:59ZengMDPI AGHematology Reports2038-83302024-02-011619810510.3390/hematolrep16010010Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for LeukemiaRisa Matsumura0Shinji Mochizuki1Yusuke Morishita2Hiroko Hayakawa3Shuhei Karakawa4Hiroshi Kawaguchi5Satoshi Okada6Nobuyuki Hyakuna7Masao Kobayashi8Department of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanDepartment of Pediatrics, University of the Ryukyus Hospital, Okinawa 903-0215, JapanDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, JapanSevere congenital neutropenia (SCN) is characterized by chronic neutropenia with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with SCN who develop myelodysplastic syndrome/AML. We report an 8-year-old girl with SCN carrying an <i>ELANE</i> mutation that had been refractory to granulocyte colony-stimulating factor. The patient experienced recurrent infections and then developed AML. The counts of leukemic blasts that harbored both <i>CSF3R</i> and <i>RUNX1</i> mutations spontaneously decreased with antimicrobial therapy, leading to partial remission. After AML recurrence, HSCT was successfully performed using modified chemotherapy and a conditioning regimen. Serial donor lymphocyte infusions against mixed chimerism induced complete donor chimerism over 4 years without any infections or AML relapse. This case suggests the importance of carefully managing neutropenia-related infections, leukemia progression, and HSCT in patients with SCN developing AML.https://www.mdpi.com/2038-8330/16/1/10severe congenital neutropeniaacute myeloid leukemiahematopoietic stem cell transplantation |
| spellingShingle | Risa Matsumura Shinji Mochizuki Yusuke Morishita Hiroko Hayakawa Shuhei Karakawa Hiroshi Kawaguchi Satoshi Okada Nobuyuki Hyakuna Masao Kobayashi Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia Hematology Reports severe congenital neutropenia acute myeloid leukemia hematopoietic stem cell transplantation |
| title | Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia |
| title_full | Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia |
| title_fullStr | Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia |
| title_full_unstemmed | Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia |
| title_short | Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia |
| title_sort | successful bone marrow transplantation in a patient with acute myeloid leukemia developed from severe congenital neutropenia using modified chemotherapy and conditioning regimen for leukemia |
| topic | severe congenital neutropenia acute myeloid leukemia hematopoietic stem cell transplantation |
| url | https://www.mdpi.com/2038-8330/16/1/10 |
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