Association between SAMD9/SAMD9L and hematological malignancies

Abstract

In this article, knowledge about SAMD9/SAMD9L molecules, which has been a topic of interest in the field of hematological malignancies, was reviewed. Based on clinical genetic research on hematologic malignancies with chromosome 7 abnormality (e.g., monosomy 7 and 7q deletion), SAMD9/SAMD9L, located on chromosome 7, was suggested to be the suppressor of myeloid malignancies. In 2016, activating SAMD9 mutations were observed in individuals with MIRAGE syndrome, a multisystem syndrome, including hematological abnormalities. Furthermore, activating SAMD9L mutations were observed in individuals with ataxia pancytopenia syndrome. In the two syndromes, chromosome 7 abnormalities are frequently acquired, and this is considered an adaptive change for removing SAMD9/SAMD9L mutations with growth-suppressing effects. In 2017, a comprehensive genetic analysis of individuals with early-onset bone marrow failure was performed, revealing that mutations in SAMD9/SAMD9L were the leading genetic cause. At present, the molecular functions of SAMD9/SAMD9L are not known, and further studies must be conducted to completely elucidate these functions.