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Translocation t(8;14)(q24;q11) with concurrent PTEN alterations and deletions of STIL/TAL1 and CDKN2A/B in a pediatric case of acute T‐lymphoblastic leukemia: A genetic profile associated with adverse prognosis
Authors:Jolanta Skalska‐Sadowska  Małgorzata Dawidowska  Bronisława Szarzyńska‐Zawadzka  Małgorzata Jarmuż‐Szymczak  Joanna Czerwińska‐Rybak  Ludomiła Machowska  Katarzyna Derwich
Affiliation:1. Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznań, Poland;2. Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland;3. Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, Poznań, Poland
Abstract:We report a pediatric case of acute T‐lymphoblastic leukemia (T‐ALL) with NOTCH1wt, FBXW7wt, 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 frameshift mutation of PTEN and the same set of remaining molecular alterations. This case documents an unfavorable prognostic potential of a co‐occurrence of this set of molecular genetic events and addresses risk stratification in T‐ALL.
Keywords:MYC  prognostic factors  PTEN  T‐ALL  t(8  14)(q24  q11)
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