Recent Advances in Hematopoietic Stem Cell Transplantation for Inherited Bone Marrow Failure Syndromes

Abstract

The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by the inadequate production of at least one of the hematopoietic lineages, leading to the development of both isolated cytopenia (anemia, neutropenia, or thrombocytopenia) or pancytopenia. Different biological mechanisms justify the pathophysiological changes found in the IBMFS, emphasizing the repair pathways in Fanconi anemia (FA), maintenance of telomeres in congenital dyskeratosis, and ribosome biogenesis in Shwachman Diamond syndrome (SSD) and Blackfan Diamond anemia. These disorders are generally associated with the presence of congenital malformations and an increased risk of cancer, mainly hematological, gynecological, and head and neck neoplasms. Although the diagnosis occurs typically in childhood, adult patients, mostly below 40 years of age with signs and symptoms suggestive of IBMFS, should be investigated. Currently, hematopoietic stem cell transplantation (HSCT) is the only curative option for hematological complications related to IBMFS. It is essential to highlight that these patients must be monitored throughout their lives to prevent or detect early treatable neoplasia.