A genetic profiling guideline to support diagnosis and clinical management of lymphomas

• Margarita Sánchez-Beato ^[1] ; Miriam Méndez ^[1] ; María Guirado ^[2] ; Lucía Pedrosa ^[1] ; Silvia Sequero ^[2] ; Natalia Yanguas-Casás ^[1] ; Luis de la Cruz-Merino ^[2] ; Laura Gálvez ^[2] ; Marta Llanos ^[2] ; Juan Fernando García ^[3] ; Mariano Provencio ^[1]
  1. [1] Servicio de Oncología Médica, Grupo de Investigación en Linfomas, Hospital Universitario Puerta de Hierro-Majadahonda, IDIPHISA, Madrid
  2. [2] Grupo Oncológico para el Tratamiento y Estudio de los Linfomas-GOTEL, Madrid
  3. [3] Servicio de Anatomía Patológica, Hospital MD Anderson Cancer Center, Madrid

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• Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 26, Nº. 5, 2024, págs. 1043-1062
• Idioma: inglés
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• Resumen

  • The new lymphoma classifications (International Consensus Classification of Mature Lymphoid Neoplasms, and 5th World Health Organization Classification of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassification, patient risk stratification, and prediction of treatment response. Lymphomas are characterized by very few recurrent and disease-specific mutations, and most entities have a heterogenous genetic landscape with a long tail of recurrently mutated genes. Most of these occur at low frequencies, reflecting the clinical heterogeneity of lymphomas. Multiple studies have identified 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.