RESUMEN
Forward thinking does not seek to predict the future, to unveil it as if it were already in existence, rather, its aim is to help us to construct it. Although today's epidemiological and therapeutic situations for urogenital tumours can evolve over the next 10 years, diagnostic and therapeutic methods, as well as the treatment and implementation of innovations, are already rapidly changing. Rather than reducing our prospective thinking to the therapeutic treatment of cancer only, we will aim at proposing a global sanitary vision that includes diagnosis, therapies, prevention, routine utilisation of technomedicine, genomics and even nanomedicine. This journey into the near future of tomorrow's cancerology holds the promise of being better adapted to the evolution of the medical thinking process. Imagining the way we will be treating renal, prostatic and urothelial tumours in 10 years' time is as much an introspection into our present day treatment system as a projection into its hoped for future evolution.
Asunto(s)
Medicina de Precisión/tendencias , Procedimientos Quirúrgicos Robotizados/tendencias , Neoplasias Urológicas/terapia , Urología/tendencias , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Francia/epidemiología , Humanos , Inmunoterapia/tendencias , Neoplasias Renales/terapia , Masculino , Procedimientos Quirúrgicos Mínimamente Invasivos/tendencias , Terapia Molecular Dirigida/tendencias , Neoplasias de la Próstata/terapia , Radioterapia Adyuvante/métodos , Resultado del Tratamiento , Neoplasias Urológicas/diagnóstico , Neoplasias Urológicas/epidemiología , Neoplasias Urológicas/genética , Urotelio/patologíaRESUMEN
Cancer is caused by genetic alterations, but only 10% of the cancer diseases are inherited. The probability for an individual or a family of having inherited cancer, individual consequences of the respective results of genetic testing, as well as its costs and reimbursement by the health insurance must be addressed by expert genetic counseling which at-risk requires special expertise. Identification of a germline mutation which may predispose to a variety of different cancer types allows determination of an individual's specific life time risk in symptomatic as well as in a-symptomatic family members. Identification of the underlying defective gene in heritable cancer disorders also enables optimized preventive and novel therapeutic approaches specifically targeting the underlying molecular pathomechanisms.
Les cancers sont d'origine génétique, mais seulement 10% sont héréditaires, et l'anomalie génétique n'est pas toujours connue. Ces prédispositions peuvent être détectées par des analyses génétiques, à condition que l'assurance maladie prenne en charge les coûts, et que les conséquences individuelles soient discutées en conseil génétique. Le diagnostic prédictif met le patient dans une situation particulière. En effet, la découverte d'une prédisposition héréditaire à un cancer permet d'évaluer l'espérance de vie, aussi bien pour les malades que pour les porteurs sains de la mutation. Par ailleurs, la détection du défaut génétique permet d'optimiser la prise en charge du patient et ainsi prolonger son espérance de vie. Enfin, la connaissance des mécanismes pathogènes sous-jacents ouvre de nouvelles approches thérapeutiques adaptées à chacun.
Asunto(s)
Pruebas Genéticas/métodos , Neoplasias/genética , Adulto , Anciano , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Análisis Mutacional de ADN , Femenino , Regulación Neoplásica de la Expresión Génica/genética , Asesoramiento Genético , Mutación de Línea Germinal/genética , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/diagnóstico , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genéticaRESUMEN
This case-report focused on the occurrence of a crisis of malignant hyperthermia on a young biker (21 y.o.) victim of a severe traffic accident. This observation gives some key points: the delayed occurrence of the crisis after 4 hours of surgery, the multi-factorial events that triggered the crisis; the choice to perform a quick diagnosis through gene analysis in comparison to the standard tests of caffeine on a muscular biopsy. These different points are discussed with a proposal of algorithm in the situation.