A genetic profling guideline to support diagnosis and clinical management of lymphomas
The new lymphoma classifcations (International Consensus Classifcation of Mature Lymphoid Neoplasms, and 5th World Health Organization Classifcation of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassifcation, patient risk stratifcatio...
| Autores: | , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universidad de Sevilla (US) |
| Repositorio: | idUS. Depósito de Investigación de la Universidad de Sevilla |
| OAI Identifier: | oai:idus.us.es:11441/155711 |
| Acceso en línea: | https://hdl.handle.net/11441/155711 https://doi.org/10.1007/s12094-023-03307-1 |
| Access Level: | acceso abierto |
| Palabra clave: | Lymphoma Next-generation sequencing Diagnosis Prognosis |
| Sumario: | The new lymphoma classifcations (International Consensus Classifcation of Mature Lymphoid Neoplasms, and 5th World Health Organization Classifcation of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassifcation, patient risk stratifcation, and prediction of treatment response. Lymphomas are characterized by very few recurrent and disease-specifc mutations, and most entities have a heterogenous genetic landscape with a long tail of recurrently mutated genes. Most of these occur at low frequencies, refecting the clinical heterogeneity of lymphomas. Multiple studies have identifed genetic markers that improve diagnostics and prognostication, and next generation sequencing is becoming an essential tool in the clinical laboratory. This review provides a “next-generation sequencing” guide for lymphomas. It discusses the genetic alterations of the most frequent mature lymphoma entities with diagnostic, prognostic, and predictive potential and proposes targeted sequencing panels to detect mutations and copy-number alterations for B- and NK/T-cell lymphomas. |
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