Sara Torres-Esquius, Francisco Beas, Tzu Hua Chen-Liang, Helena Pomares, Marta Santiago, Nicolás Díaz Varela, Alessandro Liquori, Francisca Hernandez, Blanca Xicoy, Lourdes Hermosín, Montserrat Arnan, Bárbara Tazón-Vega, Adoración Blanco, José Cervera, María Diez-Campelo, María Luisa Lozano, David Valcárcel, Francesc Bosch, Maria Julia Montoro, Andrés Jerez
Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic germline variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an option for those aged over 50; neglecting germline testing could mask the risk for relative donor cell-derived MN. We propose a germline-augmented somatic panel (GASP), combining MN predisposition genes with a myeloid somatic panel for timely germline variant identification when initial testing is not indicated...
April 19, 2024: British Journal of Haematology