Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia

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 h...

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Autores: Genescà, Eulàlia|||0000-0002-5657-4842, Lazarenkov, Aleksey|||0000-0003-0652-8116, Morgades, Mireia|||0000-0003-0295-2534, Berbis, G., Ruíz-Xivillé, Neus, Gómez-Marzo, Paula|||0000-0002-6829-9630, Ribera, Jose-Maria|||0000-0003-1042-6024, Junca, Jordi|||0000-0003-0142-772X, Gonzalez-Perez, Abel|||0000-0002-8582-4660, Mercadal, Santiago|||0000-0003-4741-7885, Guàrdia, Ramón, Artola, Maria Teresa, Moreno, Maria José, Martínez-López, Joaquín F., Zamora, Lurdes|||0000-0003-1713-7110, Barba, Pere|||0000-0001-7076-7969, Gil, Cristina, Tormo, Mar|||0000-0001-9622-1649, Cladera, Antonia, Novo, Andrés, Pratcorona, Marta|||0000-0001-6375-596X, Nomdedeu Guinot, Jose Francisco|||0000-0003-3399-346X, González Campos, José, Almeida Parra, María, Cervera, José|||0000-0001-8252-1106, Montesinos, Pau|||0000-0002-3275-5593, Batlle, Montserrat|||0000-0002-3034-2023, Vives Polo, Susana|||0000-0003-2217-5285, Esteve Reyner, Jordi|||0000-0002-8056-648X, Feliu Frasnedo, Evarist|||0000-0001-5780-3136, Sole, F.|||0000-0002-3251-2161, Orfao, Alberto|||0000-0002-0007-7230
Tipo de recurso: artículo
Fecha de publicación:2018
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:227971
Acceso en línea:https://ddd.uab.cat/record/227971
https://dx.doi.org/urn:doi:10.1186/s13045-018-0639-8
Access Level:acceso abierto
Palabra clave:T-ALL
CDKN2A/ARF
CDKN2B
Prognosis
MRD
Descripción
Sumario: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.

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