Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia

Abstract

[EN]Acute lymphoblastic leukemia (ALL) is generally considered an acquired disorder and very few cases have been reported to be associated with germline mutations in PAX5, ETV6, and IKZF1 [1,2,3]. ALL has been observed in rare of inherited bone marrow failure sydnromes (IBMFSs) such as Fanocni anemia [4] and Shwachman-Diamond syndrome [5]. Identifying inherited causes of ALL may be critically important for selecting suitable therapeutic treatments, as applicable to conditions such as Fanoni anemia and ataxia telengeictasia which feature an increased sensitivity to ionizing radiation and chemotherapy.