RT Journal Article
T1 Mutations in TP53 and JAK2 are independent prognostic biomarkers in B-cell precursor acute lymphoblastic leukaemia.
A1 Forero-Castro, Maribel
A1 Robledo, Cristina
A1 Benito, Rocío
A1 Bodega-Mayor, Irene
A1 Rapado, Inmaculada
A1 Hernández-Sánchez, María
A1 Abáigar, María
A1 Maria Hernández-Sánchez, Jesús
A1 Quijada-Álamo, Miguel
A1 María Sánchez-Pina, José
A1 Sala-Valdés, Mónica
A1 Araujo-Silva, Fernanda
A1 Kohlmann, Alexander
A1 Luis Fuster, José
A1 Arefi, Maryam
A1 de Las Heras, Natalia
A1 Riesco, Susana
A1 Rodríguez, Juan N
A1 Hermosín, Lourdes
A1 Ribera, Jordi
A1 Camos Guijosa, Mireia
A1 Ramírez, Manuel
A1 de Heredia Rubio, Cristina Díaz
A1 Barragán, Eva
A1 Martínez, Joaquín
A1 Ribera, José M
A1 Fernández-Ruiz, Elena
A1 Hernández-Rivas, Jesús-María
AB In B-cell precursor acute lymphoblastic leukaemia (B-ALL), the identification of additional genetic alterations associated with poor prognosis is still of importance. We determined the frequency and prognostic impact of somatic mutations in children and adult cases with B-ALL treated with Spanish PETHEMA and SEHOP protocols. Mutational status of hotspot regions of TP53, JAK2, PAX5, LEF1, CRLF2 and IL7R genes was determined by next-generation deep sequencing in 340 B-ALL patients (211 children and 129 adults). The associations between mutation status and clinicopathological features at the time of diagnosis, treatment outcome and survival were assessed. Univariate and multivariate survival analyses were performed to identify independent prognostic factors associated with overall survival (OS), event-free survival (EFS) and relapse rate (RR). A mutation rate of 12.4% was identified. The frequency of adult mutations was higher (20.2% vs 7.6%, P=0.001). TP53 was the most frequently mutated gene (4.1%), followed by JAK2 (3.8%), CRLF2 (2.9%), PAX5 (2.4%), LEF1 (0.6%) and IL7R (0.3%). All mutations were observed in B-ALL without ETV6-RUNX1 (P=0.047) or BCR-ABL1 fusions (P TP53mut and JAK2mut are potential biomarkers associated with poor prognosis in B-ALL patients.
YR 2017
FD 2017-05-30
LK http://hdl.handle.net/10668/11250
UL http://hdl.handle.net/10668/11250
LA en
DS RISalud
RD Apr 7, 2025