التفاصيل البيبلوغرافية
| العنوان: |
Strategy for identification of a potential inherited leukemia predisposition in a 299 patient's cohort with tumor-only sequencing data. |
| المؤلفون: |
Aguilera-Diaz, Almudena1,2 (AUTHOR), Larrayoz, María José2,3 (AUTHOR), Palomino-Echeverría, Sara3 (AUTHOR), Vazquez, Iria2,3 (AUTHOR), Ariceta, Beñat3 (AUTHOR), Mañú, Amagoia3 (AUTHOR), Blasco-Iturri, Zuriñe3 (AUTHOR), Bernal del Castillo, Teresa4 (AUTHOR), Olivares Salaverri, Matxalen5 (AUTHOR), Olave Rubio, Maria Teresa6 (AUTHOR), Rifon-Roca, Jose7 (AUTHOR), Alfonso-Pierola, Ana7 (AUTHOR), Prosper, Felipe1,2,7 (AUTHOR), Fernandez-Mercado, Marta1,3 (AUTHOR) mfmercado@unav.es, Calasanz, María José1,2,3,8 (AUTHOR) |
| المصدر: |
Leukemia Research. Aug2020, Vol. 95, pN.PAG-N.PAG. 1p. |
| مصطلحات موضوعية: |
*LEUKEMIA, *CANCER patients, *FIBROBLASTS, *GENETIC counseling, *IDENTIFICATION |
| مستخلص: |
• 90 of 299 patient samples sequenced harbored variants with VAF∼50% in MNGP genes. • Available cases sequencing data confirmed as germline 60% (6/10) suspicious variants. • Only skin fibroblasts, hair bulbs and CD3+ cells helped discerning variants nature. Myeloid neoplasms (MN) are usually sporadic late-onset cancers; nevertheless, growing evidence suggests that ∼5% of the cases could emerge as a consequence of inherited predisposition. Distinguishing somatic from germline variants is of vital importance, in order to establish an appropriate individualized management and counsel the patients and their relatives. Since many of the genes associated with myeloid neoplasm germline predisposition (MNGP) are also affected in sporadic MN, we intended to design a strategy to identify potentially inherited variants in a tumor only NGS panel in a cohort of 299 patients with a variety of MN. We considered as indicative of potential inherited origin, variants detected in BM sample at a ∼50% VAF classified as pathogenic, likely pathogenic or of unknown significance detected in MNGP-related genes. A total of 104 suspicious variants from 90 patients were filtered-in in tumor samples. Mutational patterns, follow-up data, and sequencing of a range of non-myeloid tissues were used for narrowing down the list of suspicious variants, and ultimately discriminate their nature. Our data supports the importance of considering variants found upon tumor-only sequencing as potentially of germline origin, and we offer a pipeline to define the nature of the variants. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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