Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant
Pathogenic variants in the genes SAMD9 (sterile a-motif domain containing protein – 9) and SAMD9L (SAMD9-like) cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia a...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2337160 |
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| author | Manujasri Wimalachandra Ruwangi Dissanayake Revathi Raj Austin Kulasekeraraj Sujith Samarasinghe Lallindra Gooneratne |
| author_facet | Manujasri Wimalachandra Ruwangi Dissanayake Revathi Raj Austin Kulasekeraraj Sujith Samarasinghe Lallindra Gooneratne |
| author_sort | Manujasri Wimalachandra |
| collection | DOAJ |
| description | Pathogenic variants in the genes SAMD9 (sterile a-motif domain containing protein – 9) and SAMD9L (SAMD9-like) cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia and a novel variant in the SAMD9L gene. His father, elder brother and sister who harbored the same variant were completely healthy. In the absence of a matched unrelated donor, he underwent a stem cell transplant from his sister, a 10/10 match. Almost 2 years later he developed donor type aplasia and succumbed to an invasive fungal infection after a failed haplograft from his mother. This case highlights the pathogenicity of this previously undescribed germline variation of uncertain significance in the SAMD9L gene and the value of comprehensive genetic testing for inherited bone marrow failures even in the absence of a positive family history or characteristic congenital abnormalities. |
| format | Article |
| id | doaj-art-e4e6a996bc9743458ee57ee5e3e79c01 |
| institution | OA Journals |
| issn | 1607-8454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-e4e6a996bc9743458ee57ee5e3e79c012025-08-20T01:59:09ZengTaylor & Francis GroupHematology1607-84542024-12-0129110.1080/16078454.2024.2337160Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variantManujasri Wimalachandra0Ruwangi Dissanayake1Revathi Raj2Austin Kulasekeraraj3Sujith Samarasinghe4Lallindra Gooneratne5Department of Pathology, Faculty of Medicine, University of Colombo, Colombo, Sri LankaDepartment of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri LankaDepartment of Paediatric Hematology, Oncology and Blood and Marrow Transplantation, Apollo Cancer Institutes, Chennai, IndiaDepartment of Haematology, King’s College Hospital, London, UKDepartment of Haematology, Great Ormond Street Hospital, London, UKDepartment of Pathology, Faculty of Medicine, University of Colombo, Colombo, Sri LankaPathogenic variants in the genes SAMD9 (sterile a-motif domain containing protein – 9) and SAMD9L (SAMD9-like) cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia and a novel variant in the SAMD9L gene. His father, elder brother and sister who harbored the same variant were completely healthy. In the absence of a matched unrelated donor, he underwent a stem cell transplant from his sister, a 10/10 match. Almost 2 years later he developed donor type aplasia and succumbed to an invasive fungal infection after a failed haplograft from his mother. This case highlights the pathogenicity of this previously undescribed germline variation of uncertain significance in the SAMD9L gene and the value of comprehensive genetic testing for inherited bone marrow failures even in the absence of a positive family history or characteristic congenital abnormalities.https://www.tandfonline.com/doi/10.1080/16078454.2024.2337160SAMD9SAMD9Laplastic anemiadonor-type aplasiabone marrow failure syndromes |
| spellingShingle | Manujasri Wimalachandra Ruwangi Dissanayake Revathi Raj Austin Kulasekeraraj Sujith Samarasinghe Lallindra Gooneratne Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant Hematology SAMD9 SAMD9L aplastic anemia donor-type aplasia bone marrow failure syndromes |
| title | Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant |
| title_full | Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant |
| title_fullStr | Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant |
| title_full_unstemmed | Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant |
| title_short | Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel SAMD9L variant |
| title_sort | donor type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel samd9l variant |
| topic | SAMD9 SAMD9L aplastic anemia donor-type aplasia bone marrow failure syndromes |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2337160 |
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