title: 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.
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.
authors.affiliation: Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznań, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Skalska-Sadowska
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Dawidowska
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
authors.forename: Bronisława
authors.initials: B
authors.lastname: Szarzyńska-Zawadzka
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.|Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, Poznań, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Jarmuż-Szymczak
authors.affiliation: Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, Poznań, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Czerwińska-Rybak
authors.affiliation: Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznań, Poland.
authors.forename: Ludomiła
authors.initials: L
authors.lastname: Machowska
authors.affiliation: Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznań, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Derwich
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000073942:T-Cell Acute Lymphocytic Leukemia Protein 1; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18; D047908:Intracellular Signaling Peptides and Proteins; D051059:PTEN Phosphohydrolase; D011518:Proto-Oncogene Proteins; D000073942:T-Cell Acute Lymphocytic Leukemia Protein 1; C000614131:CDKN2A protein, human; C493966:CDKN2B protein, human; C071236:STIL protein, human; C067143:TAL1 protein, human; C494929:PTEN protein, human
keywords: MYC; PTEN; T-ALL; prognostic factors; t(8;14)(q24;q11)