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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
Author(s) -
SkalskaSadowska Jolanta,
Dawidowska Małgorzata,
SzarzyńskaZawadzka Bronisława,
JarmużSzymczak Małgorzata,
CzerwińskaRybak Joanna,
Machowska Ludomiła,
Derwich Katarzyna
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26266
Subject(s) - cdkn2a , pten , chromosomal translocation , fluorescence in situ hybridization , medicine , exon , frameshift mutation , cancer research , microbiology and biotechnology , biology , genetics , gene , chromosome , pi3k/akt/mtor pathway , cancer , apoptosis
We report a pediatric case of acute T‐lymphoblastic leukemia (T‐ALL) with NOTCH1 wt , FBXW7 wt , 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.