RT Journal Article
T1 Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia.
A1 Genescà, E
A1 Lazarenkov, A
A1 Morgades, M
A1 Berbis, G
A1 Ruíz-Xivillé, N
A1 Gómez-Marzo, P
A1 Ribera, J
A1 Juncà, J
A1 González-Pérez, A
A1 Mercadal, S
A1 Guardia, R
A1 Artola, M T
A1 Moreno, M J
A1 Martínez-López, J
A1 Zamora, L
A1 Barba, P
A1 Gil, C
A1 Tormo, M
A1 Cladera, A
A1 Novo, A
A1 Pratcorona, M
A1 Nomdedeu, J
A1 González-Campos, J
A1 Almeida, M
A1 Cervera, J
A1 Montesinos, P
A1 Batlle, M
A1 Vives, S
A1 Esteve, J
A1 Feliu, E
A1 Solé, F
A1 Orfao, A
A1 Ribera, J M
K1 CDKN2A/ARF
K1 CDKN2B
K1 MRD
K1 Prognosis
K1 T-ALL
AB Recurrent deletions of the CDKN2A/ARF/CDKN2B genes encoded at chromosome 9p21 have been described in both pediatric and adult acute lymphoblastic leukemia (ALL), but their prognostic value remains controversial, with limited data on adult T-ALL. Here, we investigated the presence of homozygous and heterozygous deletions of the CDKN2A/ARF and CDKN2B genes in 64 adult T-ALL patients enrolled in two consecutive trials from the Spanish PETHEMA group. Alterations in CDKN2A/ARF/CDKN2B were detected in 35/64 patients (55%). Most of them consisted of 9p21 losses involving homozygous deletions of the CDKNA/ARF gene (26/64), as confirmed by single nucleotide polymorphism (SNP) arrays and interphase fluorescence in situ hybridization (iFISH). Deletions involving the CDKN2A/ARF/CDKN2B locus correlated with a higher frequency of cortical T cell phenotype and a better clearance of minimal residual disease (MRD) after induction therapy. Moreover, the combination of an altered copy-number-value (CNV) involving the CDKN2A/ARF/CDKN2B gene locus and undetectable MRD (≤ 0.01%) values allowed the identification of a subset of T-ALL with better overall survival in the absence of hematopoietic stem cell transplantation.
YR 2018
FD 2018-07-24
LK http://hdl.handle.net/10668/12748
UL http://hdl.handle.net/10668/12748
LA en
DS RISalud
RD Apr 7, 2025