2016
DOI: 10.1002/pbc.26266
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Translocation t(8;14)(q24;q11) with concurrentPTENalterations and deletions ofSTIL/TAL1andCDKN2A/Bin a pediatric case of acute T-lymphoblastic leukemia: A genetic profile associated with adverse prognosis

Abstract: We report a pediatric case of acute T-lymphoblastic leukemia (T-ALL) with NOTCH1 , FBXW7 , STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)-positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frames… Show more

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Cited by 3 publications
(1 citation statement)
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“…The PI3K/Akt/mTOR network is one of the most abnormally expressed signaling pathway in cancer, and recurring mutations have been characterized, including somatic mutations ( PIK3CA , Akt , and PTEN ), amplifications ( PIK3CA , PIK3CB , and Akt ), and deletions (PTEN) . New PI3K/Akt/mTOR–targeted inhibitors with better selectivity and specificity have been developed .…”
Section: Targeted Therapymentioning
confidence: 99%
“…The PI3K/Akt/mTOR network is one of the most abnormally expressed signaling pathway in cancer, and recurring mutations have been characterized, including somatic mutations ( PIK3CA , Akt , and PTEN ), amplifications ( PIK3CA , PIK3CB , and Akt ), and deletions (PTEN) . New PI3K/Akt/mTOR–targeted inhibitors with better selectivity and specificity have been developed .…”
Section: Targeted Therapymentioning
confidence: 99%