RESUMO
PURPOSE: Outcomes for patients with metastatic colorectal cancer (mCRC) have been improved by the identification of biomarkers predictive and prognostic of clinical outcome. The present retrospective analysis was undertaken to assess the utility of key biomarkers and clinical parameters in predicting outcomes in Spanish patients with mCRC. METHODS: We retrospectively analyzed tumor samples from a series of patients aged > 18 years with mCRC who were treated at the Hospital General Universitario Gregorio Marañón Spain. Real-time polymerase chain reaction was used to detect KRAS, NRAS, BRAF, and PIK3CA mutations. The key outcome of interest was overall survival (OS). Survival curves were estimated using the Kaplan-Meier method and stratified by the variables of greatest clinical interest. Differences were tested using the log-rank test. RESULTS: Median OS in the overall population was 24.4 months. Triple WT patients (WT KRAS, NRAS, and BRAF) and quadruple WT patients (WT KRAS, NRAS, BRAF, and PIK3CA) had significantly better OS than those who did not have triple or quadruple WT tumors. OS was significantly better in patients with left- vs. right-sided tumors, patients with resected primary tumors and metastases vs. those without resection, and patients with isolated hepatic and isolated pulmonary metastases. CONCLUSIONS: This retrospective, observational study has confirmed the prognostic value of the location and resection status of the primary tumor and metastases in Spanish patients with mCRC. Triple WT status, in particular, was prognostic in this patient population, with PIK3CA adding to the prognostic value in the quadruple WT population.
Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Neoplasias Colorretais/genética , GTP Fosfo-Hidrolases/genética , Genes ras , Proteínas de Membrana/genética , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Espanha , Fatores de TempoRESUMO
OBJECTIVE: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. METHODS: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. RESULTS: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. CONCLUSION: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected.
Assuntos
Hospitais Universitários/organização & administração , Síndromes Neoplásicas Hereditárias/terapia , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Masculino , Síndromes Neoplásicas Hereditárias/classificação , Síndromes Neoplásicas Hereditárias/genética , Estudos Retrospectivos , EspanhaRESUMO
The thyroid pathology in the paediatric population represents 5% of the total and 1.2% only thyroid pathology correspond to the infantile solitary thyroid nodules. Most of them are asymptomatic and as only sign an increase of volume is observed in the neck. Always we have to ask about the family history because the possibility of medullary carcinoma related with multiple endocrine neoplasias should be investigated (a patient of our series). The thyroid tumor represents 0.5% of all the tumors and of these 10% is in younger than 21 years old. We present 13 patients with thyroid pathology that have required surgical treatment, since 1983 to 1997. Five papillary carcinomas (ages: 7 to 14 years old) that started with a cervical nodule, normal thyroid function and a case of medullary carcinoma, in a multiple endocrine neoplasia (MEN II 2A). In the 5 cases of carcinoma papillary we were carried out total thyroidectomy and later on, postoperative ablative dose of 131I was administered. In the case of the girl with medullary carcinoma was carried out a total tumorectomy and lymph node excision. Finally, seven patients with nodule thyroid were thyroid benign tumors (benign 6 adenomas and 1 cyst colloid, ages: 8 to 15 years old). In all of them we were carried out total surgical excision of the thyroid nodules. Our protocol of study of nodule thyroid includes: 1) thyroid gammagraphy to know the intensity of reception of the isotope; 2) cervical ultrasound; and 3) biopsy or cytopathology of fine needle aspiration of the thyroid gland in children that it dissuades to base the surgical strategy on this test.
