RESUMO
It is often said that regional anesthesia is the practice of applied anatomy. Therefore, it is fitting that on the occasion of his 500th birthday, we celebrate the life and work of the brilliant Flemish anatomist, Andreas Vesalius (1514-1564), the founder of modern anatomy.
Assuntos
Anatomia/história , Anestesia por Condução/história , Aniversários e Eventos Especiais , Sistema Nervoso , Manejo da Dor/história , Atlas como Assunto/história , Bélgica , Cadáver , Dissecação/história , História do Século XVI , Humanos , Sistema Nervoso/anatomia & histologiaRESUMO
OBJECTIVE: Endometrial cancer patients may benefit from systemic adjuvant chemotherapy, alone or in combination with targeted therapies. Prognostic and predictive markers are needed, however, to identify patients amenable for these therapies. METHODS: Primary endometrial tumors were genotyped for >100 hot spot mutations in genes potentially acting as prognostic or predictive markers. Mutations were correlated with tumor characteristics in a discovery cohort, replicated in independent cohorts and finally, confirmed in the overall population (n=1063). RESULTS: PIK3CA, PTEN and KRAS mutations were most frequently detected, respectively in 172 (16.2%), 164 (15.4%) and 161 (15.1%) tumors. Binary logistic regression revealed that PIK3CA mutations were more common in high-grade tumors (OR=2.03; P=0.001 for grade 2 and OR=1.89; P=0.012 for grade 3 compared to grade 1), whereas a positive TP53 status correlated with type II tumors (OR=11.92; P<0.001) and PTEN mutations with type I tumors (OR=19.58; P=0.003). Conversely, FBXW7 mutations correlated with positive lymph nodes (OR=3.38; P=0.045). When assessing the effects of individual hot spot mutations, the H1047R mutation in PIK3CA correlated with high tumor grade and reduced relapse-free survival (HR=2.18; P=0.028). CONCLUSIONS: Mutations in PIK3CA, TP53, PTEN and FBXW7 correlate with high tumor grade, endometrial cancer type and lymph node status, whereas PIK3CA H1047R mutations serve as prognostic markers for relapse-free survival in endometrial cancer patients.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias do Endométrio/genética , Mutação , Idoso , Carcinoma Endometrioide/genética , Carcinoma Endometrioide/patologia , Proteínas de Ciclo Celular/genética , Classe I de Fosfatidilinositol 3-Quinases , DNA de Neoplasias/química , DNA de Neoplasias/genética , Neoplasias do Endométrio/patologia , Proteínas F-Box/genética , Proteína 7 com Repetições F-Box-WD , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , PTEN Fosfo-Hidrolase/genética , Fosfatidilinositol 3-Quinases/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas p21(ras) , Proteína Supressora de Tumor p53/genética , Ubiquitina-Proteína Ligases/genética , Proteínas ras/genéticaRESUMO
Hereditary hemorrhagic telangiectasia (HHT) is a rare but life-threatening disease characterized by multi system telangiectasias and arteriovenous malformations (AVM). Complications in adults have been reported extensively, but neonatal (NN) complications have only been published in incidental case reports. In this paper, we present a literature review on NN pulmonary AVM related to HHT, following our own experience with a NN death due to this disease. As prenatal diagnosis of pulmonary AVM is feasible, we recommend that a family history of HHT should be an indication for expertise prenatal anomaly scanning, in order to organise optimal NN support at birth.
