RESUMEN
BACKGROUND: An estimated 20% to 30% of men with advanced prostate cancer carry a mutation in DNA damage repair genes, of which half are estimated to be germline. Eligibility criteria for germline genetic testing expanded significantly for Ontario patients in May 2021 and many centers adopted a "mainstream" model, defined as oncologist-initiated genetic testing. METHODS: We conducted a retrospective chart review to report on the first-year mainstream experience of a large tertiary oncologic center, the Sunnybrook Odette Cancer Centre. All patients who underwent mainstream at the discretion of their treating physician were included. A subset underwent somatic profiling as part of clinical trial screening. Descriptive statistics were used to report baseline clinicopathologic characteristics and treatments received. RESULTS: Between May 1, 2021, and May 30, 2022, 174 patients with prostate cancer underwent mainstream germline genetic testing with a 19-gene panel. Median age was 75 (IQR 68-80), and 82% of patients were diagnosed with either de novo metastatic or high-risk localized prostate adenocarcinoma. Fourteen patients (8%; 95% CI 4%-12%) were found to have a deleterious germline mutation, including pathogenic or likely pathogenic variants in BRCA1/2, ATM, CHEK2, PMS2, RAD51C, HOXB13, and BRIP1. Forty-nine patients (28%; 95% CI 21%-35%) were found to have a variant of uncertain significance. Thirty-four patients also had next-generation sequencing (NGS) of their somatic tissue. Among this subset, 8 of 34 (23%) had an alteration in homologous recombination repair (HRR) genes. Of the 14 patients with a germline mutation, none had a prior personal history of malignancy and 6 (43%) did not have any first- or second-degree relatives with history of prostate, pancreatic, breast, or ovarian cancer. CONCLUSION: We report on the real-world characteristics of prostate cancer patients who underwent mainstream germline genetic testing. Personal history and family history of cancer cannot reliably stratify patients for the presence of pathogenic germline variants.
Asunto(s)
Pruebas Genéticas , Mutación de Línea Germinal , Neoplasias de la Próstata , Centros de Atención Terciaria , Humanos , Masculino , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/patología , Anciano , Pruebas Genéticas/métodos , Estudios Retrospectivos , Anciano de 80 o más Años , Ontario , Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposición Genética a la Enfermedad , Quinasa de Punto de Control 2/genética , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Proteínas de Unión al ADN/genética , Proteína del Grupo de Complementación N de la Anemia de Fanconi/genética , Proteínas de la Ataxia Telangiectasia Mutada/genética , Proteínas de Homeodominio , ARN Helicasas , Proteínas del Grupo de Complementación de la Anemia de FanconiRESUMEN
Background: Post-viral pain syndrome, also known as post-viral syndrome, is a complex condition characterized by persistent pain, fatigue, musculoskeletal pain, neuropathic pain, neurocognitive difficulties, and sleep disturbances that can occur after an individual has recovered from a viral infection. Aims: This narrative review provides a summary of the sequelae of post-viral syndromes, viral agents that cause it, and the pathophysiology, treatment, and future considerations for research and targeted therapies. Methods: Medline, PubMed, and Embase databases were used to search for studies on viruses associated with post-viral syndrome. Conclusion: Much remains unknown regarding the pathophysiology of post-viral syndromes, and few studies have provided a comprehensive summary of the condition, agents that cause it, and successful treatment modalities. With the COVID-19 pandemic continuing to affect millions of people worldwide, the need for an understanding of the etiology of post-viral illness and how to help individuals cope with the sequalae is paramount.
Contexte: Le syndrome de la douleur post-virale, également connu sous le nom de syndrome post-viral, est une affection complexe caractérisée par des douleurs persistantes, de la fatigue, des douleurs musculosquelettiques, des douleurs neuropathiques, des difficultés neurocognitives et des troubles du sommeil qui peuvent survenir après la guérison d'une infection virale.Objectifs: Cette revue narrative présente un résumé des séquelles des syndromes post-viraux, des agents viraux qui les causent, ainsi que de la pathophysiologie, des traitements et des considérations futures pour la recherche et les traitements ciblés.Méthodes utilisées: Les bases de données Medline, PubMed et Embase ont été utilisées pour rechercher des études sur les virus associés au syndrome post-viral.Conclusion: La physiopathologie des syndromes post-viraux reste largement méconnue et peu d'études ont présenté un résumé complet de l'affection, des agents qui la provoquent et des modalités de traitement efficaces. Alors que la pandémie de COVID-19 continue d'affecter des millions de personnes dans le monde, il est primordial de comprendre l'étiologie de la maladie post-virale et de savoir comment aider les individus à faire face aux séquelles.
