RESUMEN
The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despite the guidelines now available, determining the pathogenicity of rare variants remains challenging, as the clinical significance of a genetic variant could be uncertain, but it may represent a disease-associated variation in the aforementioned genes. In this case report we will describe the case of a 47 years-old female affected by endometrial cancer (EC) with an extremely rare germline heterozygous variant in the MSH2 gene (c.562G > T p. (Glu188Ter), exon 3) that is likely pathogenic, and a family history consistent with LS.
RESUMEN
AIM: Diffuse malignant peritoneal mesothelioma (DMPM) is a rare and locally aggressive tumor with poor prognosis, related in most cases to asbestos exposure. It is increasing in frequency, but currently no standard therapy is available. The biology of this disease is still poorly understood. Several highly specialized centers have recently reported improved survival by means of an innovative local-regional approach. The purpose of this article is to evaluate the survival benefit and the morbidity rate of patients affected by DMPM treated at our institution by cytoreductive surgery (CRS) associated with hyperthermic intraperitoneal perioperative chemotherapy (HIPEC). METHODS: This study includes 42 patients affected by DMPM treated by an uniform approach consisting of cytoreductive surgery associated with HIPEC using cisplatin and doxorubicin. The primary end point was overall survival and morbidity rate. The secondary end point was evaluation of prognostic variables for overall survival. RESULTS: The median follow-up period was 72 months (range 1-235 months). Thirty-five patients (83.3%) presented epithelial tumors and 7 were affected by multicystic mesothelioma. The mean peritoneal cancer index (PCI) was 13. Thirty-eight patients (90.4%) had complete cytoreduction (CC-0/1). The overall morbidity rate was 35.7% associated to a perioperative mortality of 7.1%. Median overall survival rate was 65 months with a 1- and 5-year survival rates of 63% and 44%, respectively. CONCLUSION: The treatment of DMPM by CRS+HIPEC in selected patients is a feasible technique that allows to achieve encouraging results in terms of overall survival rate, with an acceptable morbidity rate. Further investigations are needed to clarify the role and the timing of this promising technique.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Laparotomía , Neoplasias Pulmonares/cirugía , Mesotelioma/cirugía , Neoplasias Peritoneales/cirugía , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Biomarcadores de Tumor/análisis , Quimioterapia Adyuvante , Cisplatino/administración & dosificación , Terapia Combinada , Doxorrubicina/administración & dosificación , Femenino , Humanos , Hipertermia Inducida , Infusiones Parenterales , Estimación de Kaplan-Meier , Antígeno Ki-67/análisis , Laparoscopía , Neoplasias Pulmonares/química , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/tratamiento farmacológico , Masculino , Mesotelioma/química , Mesotelioma/diagnóstico , Mesotelioma/tratamiento farmacológico , Mesotelioma Maligno , Persona de Mediana Edad , Selección de Paciente , Neoplasias Peritoneales/química , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/tratamiento farmacológico , Cuidados Preoperatorios , Resultado del Tratamiento , Adulto JovenRESUMEN
UNLABELLED: AIMS, PATIENTS AND METHODS: The umbilical melanoma is rare, and the surgical treatment can create difficulties for both radical excision and plastic reconstruction. Our aims are to present a case of primary melanoma of the umbilicus and to discuss the best surgical treatment, as well as review the relevant literature. RESULTS: Surgical excision of primary melanoma of the umbilicus must be carried out to reach the peritoneum. Sentinel lymph node biopsy must be carried as well as plastic reconstruction. CONCLUSION: Despite the progress in new medical therapy for melanoma, suitable surgical excision is, at present, the only treatment able to improve patient prognosis. In this report we describe the surgical treatment and plastic reconstruction of a case of umbilical melanoma.
Asunto(s)
Melanoma/patología , Melanoma/cirugía , Biopsia del Ganglio Linfático Centinela , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Ombligo/patología , Ombligo/cirugía , Femenino , Humanos , Persona de Mediana Edad , Procedimientos de Cirugía PlásticaRESUMEN
BACKGROUND: Current treatment for melanoma of the lower limb includes excision of the primary tumor with ilioinguinal lymphadenectomy in the case of lymph node metastases. The standard surgical approach includes sectioning of the inguinal ligament to gain access to the iliac nodes. More recently, some authors have reported that extraperitoneal laparoscopically assisted ilioinguinal lymphadenectomy for the treatment of malignant melanoma is feasible and less aggressive than standard open surgery. So far, no publications have described transperitoneal laparoscopic iliac lymphadenectomy (TPLND). METHODS: From November 2001 to June 2002, 13 patients with ilioinguinal node melanoma metastases underwent TPLND (stage IIIA in 1 case, IIIB in 5 cases, IIIC in 4 cases, and IV in 3 cases). RESULTS: In all 13 cases, the TPLND and groin dissection was performed correctly. Operative time, intra- and postoperative complications, number of lymph nodes retrieved, immediate morbidity, hospital stay, and feasibility of TPLND were evaluated. CONCLUSIONS: This study was conducted to evaluate the feasibility and the preliminary results of TPLND used to manage malignant melanoma of the lower limb. This approach has many advantages over the traditional procedure: less surgical trauma, no incision of the abdominal muscles or the inguinal ligament, and less postoperative pain. Moreover, as compared with extraperitoneal laparoscopically assisted ilioinguinal lymphoadenectomy, it provides an improved view of the operative area, dissection zone, and surrounding structures. Further research is needed to confirm these preliminary results regarding the potential applications of this method for treating malignant metastasis to the lower limb.