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.
A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia / Marzollo, A.; Maestrini, G.; La Starza, R.; Elia, L.; Malfona, F.; Pierini, T.; Tretti Parenzan, C.; Coppe, A.; Bortoluzzi, S.; Biffi, A.; Mecucci, C.; Bresolin, S.; Testi, A. M.. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - 95:12(2020), pp. 335-338. [10.1002/ajh.25998]
A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia
Maestrini G.;La Starza R.;Elia L.;Malfona F.;Pierini T.;Testi A. M.
2020
Abstract
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.File | Dimensione | Formato | |
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