ABSTRACT
INTRODUCTION: Five to twelve percent of melanomas show aggregation of melanomas or other related tumors within the same family or individual. Genes such as CDKN2A, or BAP1, among others, have been involved in this condition. MATERIAL AND METHODS: Retrospective descriptive study that includes patients from Cruces University Hospital (2016-2023) who met any of the following criteria: presence of two or more melanomas (1), or a melanoma and a pancreatic cancer (2) in the same individual; presence of a melanoma in an individual and one or more first- or second-degree relatives with melanoma or pancreatic cancer (3); first- or second-degree relationship with an individual with a known deleterious variant in genes related to melanoma predisposition (4); or incidental discovery of deleterious variants in genes related to predisposition to melanoma, within hereditary cancer panels carried out for reasons other than melanoma (5). RESULTS: 59 families were included (69 patients; 63.8% women), of which 8.5% (13% of patients) presented pathogenic/likely pathogenic variants (PV/LPV) in CDKN2A (6% of families and patients, excluding criteria 4 and 5), and 1.7% of families (1.4% of patients) presented PV/LPV in BAP1, BRCA2 and TERF2IP. DISCUSSION AND CONCLUSIONS: The frequencies of PV/LPV in CDKN2A are similar to those previously described. This study could contribute to the knowledge of the characteristics of patients who meet genetic study criteria for hereditary melanoma, in a setting of real clinical practice.
ABSTRACT
OBJECTIVE: To analyze prognostic factors associated with survival in a group of patients who underwent resection of pulmonary metastases from colorectal cancer. PATIENTS AND METHODS: A retrospective review was performed for 55 consecutive patients who had undergone resection of pulmonary metastases from colorectal adenocarcinoma between January 1993 and June 2004. Univariate and multivariate analyses were performed to assess the effect of the recorded variables on overall survival. RESULTS: Median overall survival was 32.9 months and the probability of survival at 1, 3, and 5 years was 79%, 44%, and 22%, respectively. Survival was lower in patients in whom the largest metastasis was at least 4 cm (8.6 vs 34.5 months, P=.0085) and in patients with elevated levels of carcinoembryonic antigen (24.5 vs 41.4 months, P=.05). Significantly longer survival was observed in patients who received adjuvant chemotherapy after surgery (49.8 vs 30.9 months, P=.0058). Preoperative positron emission tomography (PET) and the absence of previous or synchronous liver metastases were associated with a nonsignificant trend toward increased survival. In the multivariate analysis, only size of the largest pulmonary metastasis influenced overall survival (P=.036). CONCLUSIONS: The preoperative variables that best predicted survival in our patients were size of the largest pulmonary metastasis and the level of carcinoembryonic antigen. Prospective studies are needed to determine the usefulness of PET for tumor staging prior to resection of pulmonary metastases.
Subject(s)
Adenocarcinoma/mortality , Adenocarcinoma/secondary , Colorectal Neoplasms/pathology , Lung Neoplasms/mortality , Lung Neoplasms/secondary , Adenocarcinoma/surgery , Adult , Aged , Aged, 80 and over , Cohort Studies , Female , Humans , Lung Neoplasms/surgery , Male , Middle Aged , Prognosis , Retrospective Studies , Survival RateABSTRACT
Objetivo: Estudiar los factores pronósticos de supervivencia en una serie de pacientes con metástasis pulmonares resecadas de cáncer colorrectal. Pacientes y métodos: Se revisaron retrospectivamente los casos de 55 pacientes consecutivos a quienes entre enero de 1993 y junio de 2004 se había practicado una metastasectomía pulmonar de adenocarcinoma colorrectal. Se realizó un análisis univariante y multivariante para la supervivencia global con las variables recogidas. Resultados: La mediana de la supervivencia global fue de 32,9 meses, con una probabilidad de supervivencia a 1, 3 y 5 años del 79, el 44 y el 22%, respectivamente. La supervivencia fue inferior (p = 0,0085) en los pacientes en que la metástasis mayor era de 4 cm o más respecto a aquellos en que era menor de 4 cm (8,6 frente a 34,5 meses), y en los pacientes con títulos elevados de antígeno carcinoembrionario frente a aquéllos con valores normales (24,5 frente a 41,4 meses; p = 0,05). Quienes recibieron quimioterapia adyuvante tras la cirugía vivieron significativamente más (49,8 frente a 30,9 meses; p = 0,0058). La realización de una tomografía por emisión de positrones preoperatoria y la ausencia de metástasis hepáticas previas o sincrónicas se asociaron a una tendencia no significativa hacia una mejor supervivencia. En el análisis multivariante sólo el tamaño de la metástasis pulmonar mayor influyó en la supervivencia global (p = 0,036). Conclusiones: El tamaño de la metástasis mayor y el valor del antígeno carcinoembrionario fueron las variables preoperatorias que mejor predijeron la supervivencia de nuestros pacientes. Se necesitan estudios prospectivos que valoren el papel de la tomografía por emisión de positrones como estudio de extensión previo a metastasectomías pulmonares
Objective: To analyze prognostic factors associated with survival in a group of patients who underwent resection of pulmonary metastases from colorectal cancer. Patients and methods: A retrospective review was performed for 55 consecutive patients who had undergone resection of pulmonary metastases from colorectal adenocar-cinoma between January 1993 and June 2004. Univariate and multivariate analyses were performed to assess the effect of the recorded variables on overall survival. Results: Median overall survival was 32.9 months and the probability of survival at 1, 3, and 5 years was 79%, 44%, and 22%, respectively. Survival was lower in patients in whom the largest metastasis was at least 4 cm (8.6 vs 34.5 months, P=.0085) and in patients with elevated levels of carcinoembryonic antigen (24.5 vs 41.4 months, P=.05). Significantly longer survival was observed in patients who received adjuvant chemotherapy after surgery (49.8 vs 30.9 months, P=.0058). Preoperative positron emission tomography (PET) and the absence of previous or synchronous liver metastases were associated with a nonsignificant trend toward increased survival. In the multivariate analysis, only size of the largest pulmonary metastasis influenced overall survival (P=.036). Conclusions: The preoperative variables that best predicted survival in our patients were size of the largest pulmonary metastasis and the level of carcinoembryonic antigen. Prospective studies are needed to determine the usefulness of PET for tumor staging prior to resection of pulmonary metastases
