Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis
| العنوان: | Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis |
|---|---|
| المؤلفون: | B. Leizour, Jérôme Solassol, François Iborra, Alice Faure, Louise Galmiche, Sarah Garnier, Alexia Even, G. Poinas, Thomas Blanc, P. Costa, Julie A. Vendrell, P. Ravasse, Bernard Boillot, L. Soustelle, O. Bouali, Emmanuel Chartier-Kastler, Nicolas Kalfa, Véronique Phé, Gilles Karsenty, X. Gamé |
| المساهمون: | Département Chirurgie Pédiatrique [CHRU Montpellier], Pôle Femme Mère Enfant [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d'urologie [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service d'Urologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Raymond Poincaré [AP-HP], Service de Chirurgie Pédiatrique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], CHU Toulouse [Toulouse], National Reference Network DSD DevGen |
| المصدر: | Journal of Urology Journal of Urology, Elsevier, 2020, 204 (1), pp.136-143. ⟨10.1097/JU.0000000000000752⟩ |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Oncology, Male, MESH: Oncogenes, DNA Mutational Analysis, 030232 urology & nephrology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 0302 clinical medicine, Neoplasms, MESH: Urinary Bladder, MESH: Child, MESH: DNA Mutational Analysis, Neoplasm Metastasis, Child, MESH: High-Throughput Nucleotide Sequencing, MESH: Urologic Surgical Procedures, High-Throughput Nucleotide Sequencing, Prognosis, 3. Good health, Molecular analysis, MESH: Urinary Bladder Neoplasms, Natural history, Survival Rate, MESH: Young Adult, 030220 oncology & carcinogenesis, Urologic Surgical Procedures, Female, France, Adult, medicine.medical_specialty, MESH: Urinary Bladder, Neurogenic, MESH: Survival Rate, Adolescent, Urology, Urinary Bladder, Mutation, Missense, [SDV.CAN]Life Sciences [q-bio]/Cancer, Adenocarcinoma, Malignancy, MESH: Prognosis, 03 medical and health sciences, Young Adult, MESH: Bladder Exstrophy, Internal medicine, medicine, Genetics, Humans, Urinary Bladder, Neurogenic, Retrospective Studies, MESH: Adolescent, MESH: Carcinoma, Transitional Cell, MESH: Mutation, Missense, Carcinoma, Transitional Cell, MESH: Humans, Oncogene, business.industry, MESH: Adenocarcinoma, Bladder Exstrophy, MESH: Retrospective Studies, MESH: Adult, Oncogenes, medicine.disease, MESH: Neoplasm Metastasis, MESH: Male, Bladder exstrophy, MESH: France, Panel analysis, Urinary Bladder Neoplasms, business, MESH: Female |
| الوصف: | International audience; We report the natural history and prognosis of tumors after augmentation enterocystoplasty, with a molecular analysis using an oncogene panel to search for potential targeted therapies.Materials and methods: this multicenter, nationwide, retrospective study included 16 patients. A panel of 21 clinically relevant oncogenes was tested on archival tumor specimens using next-generation sequencing. Survival rate was the main clinical outcome and sequences were compared to the reference genome for the genetic outcome.Results: augmentation enterocystoplasties were performed mainly for congenital neurogenic bladder and bladder exstrophy at a median patient age of 17 years (range 4 months to 45 years). Most of the malignancies were diagnosed because of clinical manifestations, with a median latency period of 20 years. Adenocarcinomas were mainly found after gastrocystoplasty, whereas urothelial cell carcinomas were typically found after colocystoplasty. Of the 16 patients 13 were diagnosed at an advanced stage of the disease (positive lymph nodes in 7, distant metastases in 6). The overall 1-year survival rate was 56%. Only 3 patients remained disease-free at a median followup of 70 months. Of the 9 tumors with analyzable DNA 4 were wild-type and 5 harbored missense mutations (KIT-p.Pro573Ser, PDGFRA-p.Glu587Lys, KRAS-p.Gly12Asp, ERBB4p.Arg484Lys, CTNNB1-p.Ser37Phe and p.Ser47Asn).Conclusions: malignancy after augmentation enterocystoplasty is diagnosed late with frequent metastases and a very low 1-year survival rate. More than half the tested samples harbored missense mutations in oncogenes accessible to targeted therapies. An international collaboration to enlarge the genetic panel analysis of these tumors may offer new therapeutic hope to patients. |
| تدمد: | 1527-3792 0022-5347 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d376c94c3c6ddef0e89398e5fb91d894 https://pubmed.ncbi.nlm.nih.gov/32343218 |
| رقم الأكسشن: | edsair.doi.dedup.....d376c94c3c6ddef0e89398e5fb91d894 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15273792 00225347 |
|---|