2018 Volume 59 Issue 6 Pages 716-722
Inherited bone marrow failure syndromes (IBMFS) are part of a heterogeneous disease category in which at least one hematopoietic cell lineage is reduced in the bone marrow owing to a pathogenic genetic mutation. IBMFS comprise >25 defined disease entities, including Fanconi anemia (FA), Diamond-Blackfan anemia, and dyskeratosis congenita. The diagnosis is based on hematological and physical findings with the aid of several disease-specific diagnostic tests, such as the chromosomal breakage test for FA. With recent advances in clinical molecular studies that have revealed a considerable amount of pathognomonic molecular lesions in IBMFS, the role of genetic tests has become more important in the diagnosis of these diseases. Comprehensive genetic diagnostic systems using next-generation sequencing has been developed in Japan and other countries, making it technically possible to simultaneously analyze and evaluate >100 causative genes of IBMFS, and it is expected to be widely used in clinical settings.
