Rare Association of Tuberous sclerosis with Acute Lymphoblastic Leukemia: Case Report with Review of Literature

Abstract

AbstractAcute lymphoblastic leukemia (ALL) is the most common leukemia in children in which 85% of all cases are of B-cell ALL and approximately 15% cases are of T-cell ALL (T-ALL). Recent revolution in next-generation sequencing has uncovered many novel somatic mutations and rearrangements in ALL cells, which have prognostic and therapeutic implications, and it has also led to recognition of germline variants in the same genes with somatic mutations commonly associated with ALL. Apart from increasing the risk of developing ALL, germline variants may influence diagnostic testing, genetic counseling, and response to antileukemic treatment. This emphasizes importance of identification of new germline variants, or association of inherited syndromes with ALL or other malignancies. Down's syndrome, Shwachman's syndrome, Fanconi anemia, Bloom's syndrome, neurofibromatosis, and ataxia telangiectasia are well-recognized conditions associated with ALL. In this communication, we report a rare association of T-ALL with tuberous sclerosis (TS). This is the first reported case, showing association of T cell leukemia and TS with confirmatory genetic work-up.