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 |
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Authors: | Jolanta Skalska‐Sadowska Małgorzata Dawidowska Bronisława Szarzyńska‐Zawadzka Małgorzata Jarmuż‐Szymczak Joanna Czerwińska‐Rybak Ludomiła Machowska Katarzyna Derwich |
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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 |
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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. |
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Keywords: | MYC prognostic factors PTEN T‐ALL t(8 14)(q24 q11) |
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