Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel < em > SAMD9L < /em > variant

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.PMID:38597819 | DOI:10.1080/16078454.2024.2337160

Source: Hematology - April 10, 2024 Category: Hematology Authors: Manujasri Wimalachandra Ruwangi Dissanayake Revathi Raj Austin Kulasekeraraj Sujith Samarasinghe Lallindra Gooneratne Source Type: research