RT Journal Article
T1 Molecular Landscape and Validation of New Genomic Classification in 2668 Adult AML Patients: Real Life Data from the PETHEMA Registry
A1 Sargas, Claudia
A1 Ayala Díaz, Rosa María
A1 Larráyoz, María José
A1 Chillón, María Carmen
A1 Carrillo Cruz, Estrella
A1 Bilbao Sieyro, Cristina
A1 Prados de la Torre, Esther
A1 Martínez Cuadrón, David
A1 Rodríguez Veiga, Rebeca
A1 Boluda, Blanca
A1 Gil, Cristina
A1 Bernal, Teresa
A1 Bergua, Juan Miguel
A1 Algarra, Lorenzo
A1 Tormo, Mar
A1 Martínez Sánchez, María Del Pilar
A1 Soriano, Elena
A1 Serrano, Josefina
A1 Alonso Domínguez, Juan Manuel
A1 García Boyero, Raimundo
A1 Amigo, Maria Luz
A1 Herrera Puente, Pilar
A1 Sayas, María José
A1 Lavilla Rubira, Esperanza
A1 Martínez López, Joaquín
A1 Calasanz, María José
A1 García Sanz, Ramón
A1 Pérez Simón, José Antonio
A1 Gómez Casares, María Teresa
A1 Sánchez García, Joaquín
A1 Barragán, Eva
A1 Montesinos, Pau
AB Next–Generation Sequencing (NGS) implementation to perform accurate diagnosis in acute myeloid leukemia (AML) represents a major challenge for molecular laboratories in terms of specialization, standardization, costs and logistical support. In this context, the PETHEMA cooperative group has established the first nationwide diagnostic network of seven reference laboratories to provide standardized NGS studies for AML patients. Cross–validation (CV) rounds are regularly performed to ensure the quality of NGS studies and to keep updated clinically relevant genes recommended for NGS study. The molecular characterization of 2856 samples (1631 derived from the NGS–AML project; NCT03311815) with standardized NGS of consensus genes (ABL1, ASXL1, BRAF, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1 and WT1) showed 97% of patients having at least one mutation. The mutational profile was highly variable according to moment of disease, age and sex, and several co–occurring and exclusion relations were detected. Molecular testing based on NGS allowed accurate diagnosis and reliable prognosis stratification of 954 AML patients according to new genomic classification proposed by Tazi et al. Novel molecular subgroups, such as mutated WT1 and mutations in at least two myelodysplasia–related genes, have been associated with an adverse prognosis in our cohort. In this way, the PETHEMA cooperative group efficiently provides an extensive molecular characterization for AML diagnosis and risk stratification, ensuring technical quality and equity in access to NGS studies.
PB MDPI
SN 2072-6694
YR 2023
FD 2023-01-10
LK https://hdl.handle.net/20.500.14352/72341
UL https://hdl.handle.net/20.500.14352/72341
LA eng
NO Bristol-Myers Squibb/Celgene
NO Instituto de Salud Carlos III
NO Ministerio de Economía y Competitividad
DS Docta Complutense
RD 22 abr 2025