التفاصيل البيبلوغرافية
| العنوان: |
Germline assessment for alloHSCT candidates over 50 years: A ‘Fast‐Track’ screening in myeloid neoplasms. |
| المؤلفون: |
Torres‐Esquius, Sara1 (AUTHOR), Beas, Francisco1 (AUTHOR), Chen‐Liang, Tzu Hua2 (AUTHOR), Pomares, Helena3 (AUTHOR), Santiago, Marta4 (AUTHOR), Varela, Nicolás Díaz5 (AUTHOR), Liquori, Alessandro4 (AUTHOR), Hernandez, Francisca6 (AUTHOR), Xicoy, Blanca7 (AUTHOR), Hermosín, Lourdes8 (AUTHOR), Arnan, Montserrat3 (AUTHOR), Tazón‐Vega, Bárbara1 (AUTHOR), Blanco, Adoración1 (AUTHOR), Cervera, José4 (AUTHOR), Diez‐Campelo, María9 (AUTHOR), Lozano, María Luisa2 (AUTHOR), Valcárcel, David1 (AUTHOR), Bosch, Francesc1 (AUTHOR), Montoro, Maria Julia1 (AUTHOR) jmontoro@vhio.net, Jerez, Andrés1 (AUTHOR) |
| المصدر: |
British Journal of Haematology. Apr2024, p1. 7p. 1 Illustration, 1 Chart. |
| مستخلص: |
Summary 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. Out of our 133 whole‐exome‐sequenced MN cases aged over 50 years, 9% had pathogenic/likely variants. GASP detected 92%, compared to 50% with somatic‐only panel. Our study highlights the relevance of germline screening in MN, particularly for alloHSCT candidates without established germline‐testing recommendations. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
Academic Search Index |
