Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/6591
Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
Genescà, E | Lazarenkov, A | Morgades, M | Berbis, G | Ruiz-Xivillé, Neus | Gómez-Marzo, P | Ribera, J | Juncà, J | González-Pérez, A | Mercadal, S | Guardia, R | Artola, M T | Moreno, M J | Martinez Lopez, Joaquin CNIO | Zamora, L | Barba, P | Gil, C | Tormo, M | Cladera, A | Novo, A | Pratcorona, M | Nomdedeu, J | González-Campos, J | Almeida, M | Cervera, J | Montesinos, P | Batlle, M | Vives, S | Esteve, J | Feliu, E | Solé, F | Orfao, A | Ribera, J M
J Hematol Oncol. 2018; 11 (11) : 96.
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.