A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia

Acute lymphoblastic leukemia is the most frequent neoplasm in children and T-cell ALL (T-ALL), accounting for 12-15% of cases. TAL/LMO is the most represented genetic subgroup, characterizing 40-50% of pediatric T-ALL.1, 2 Somatically acquired abnormalities affecting the PI3K/AKT/mTOR pathway, mainly PTEN deletions/mutations, and AKT or PIK3R1 mutations are enriched in the TAL/LMO subgroup and have been related to a dismal outcome.3 Herein, we report results of our molecular and cytogenetic studies in a pediatric patient with a novel germline variant in PIK3R1 causing SHORT syndrome who developed a TAL/LMO T-ALL. The legal guardians of the patient provided written informed consent for the publication of the present report.