ABSTRACT
We present the case of a 69-year-old male diagnosed with stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6 proteins, but somatic wild type MSH2 and MSH6 genes with Oncomine Comprehensive Assay (OCA) genomic sequencing panel. In his cancer family history, there was a maternal aunt with sigmoid colon adenocarcinoma also missing MSH2 and MSH6 protein expression. Subsequently, we will discuss whether or not we are facing a hereditary cancer syndrome.
Subject(s)
Adenocarcinoma , Bile Duct Neoplasms , Colonic Neoplasms , Colorectal Neoplasms, Hereditary Nonpolyposis , Klatskin Tumor , Neoplastic Syndromes, Hereditary , Male , Humans , Aged , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , MutS Homolog 2 Protein/genetics , Adenocarcinoma/pathology , Klatskin Tumor/genetics , Bile Duct Neoplasms/geneticsABSTRACT
The oncogenic KRAS mutation is associated with increased tissue factor expression and thus hypercoagulability. In this regard, numerous studies published in the last decade have shown that KRAS mutations are an important risk factor for the development of thromboembolic phenomena in neoplasms of the digestive tract, such as colorectal cancer. On the other hand, some recently published studies suggest that KRAS mutations are also associated with an increased risk of developing thromboembolic phenomena in pancreatic cancer. Based on these premises, we have conducted a single-centre retrospective study on a cohort of patients with pancreatic cancer. Our aim is to demonstrate whether there is an association between the presence of KRAS mutations in our cohort of pancreatic cancer patients and an increased risk of developing thromboembolic phenomena.
Subject(s)
Colorectal Neoplasms , Pancreatic Neoplasms , Humans , Proto-Oncogene Proteins p21(ras)/genetics , Retrospective Studies , Pancreatic Neoplasms/genetics , Mutation , Colorectal Neoplasms/geneticsABSTRACT
We present the case of a 69-year-old male diagnosed with stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6 proteins, but somatic wild type MSH2 and MSH6 genes with Oncomine Comprehensive Assay (OCA) genomic sequencing panel. In his cancer family history, there was a maternal aunt with sigmoid colon adenocarcinoma also missing MSH2 and MSH6 protein expression. Subsequently, we will discuss whether or not we are facing a hereditary cancer syndrome. (AU)
Subject(s)
Humans , Male , Aged , Cholangiocarcinoma , Colorectal Neoplasms, Hereditary Nonpolyposis , GenomicsABSTRACT
The oncogenic KRAS mutation is associated with increased tissue factor expression and thus hypercoagulability. In this regard, numerous studies published in the last decade have shown that KRAS mutations are an important risk factor for the development of thromboembolic phenomena in neoplasms of the digestive tract, such as colorectal cancer. On the other hand, some recently published studies suggest that KRAS mutations are also associated with an increased risk of developing thromboembolic phenomena in pancreatic cancer. Based on these premises, we have conducted a single-centre retrospective study on a cohort of patients with pancreatic cancer. Our aim is to demonstrate whether there is an association between the presence of KRAS mutations in our cohort of pancreatic cancer patients and an increased risk of developing thromboembolic phenomena. (AU)
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Pancreatic Neoplasms/classification , Pancreatic Neoplasms/complications , Embolism , Thrombosis , GenomicsABSTRACT
We present the case of a 38-year-old woman who, in the context of a 22-week gestation, was diagnosed with diffuse gastric adenocarcinoma. The age of the patient and the way in which the cancer presented itself, make genetic counseling mandatory to rule out hereditary diffuse gastric carcinoma syndrome. This rare entity, of autosomal dominant inheritance and closely linked to mutations in the CDH1 (in most cases) and CTNNA1 genes, is associated with a greater predisposition to develop malignant neoplasms of the breast and stomach. Genetic sequencing ruled out hereditary diffuse gastric cancer syndrome. Unfortunately, 24 months after the cesarean section, our patient dies.
Subject(s)
Adenocarcinoma , Stomach Neoplasms , Pregnancy , Humans , Female , Adult , Stomach Neoplasms/pathology , Genetic Counseling , Cesarean Section , Germ-Line Mutation , Adenocarcinoma/genetics , Genetic Predisposition to DiseaseABSTRACT
We bring forward a case of a 58-year-old female who, undergoing treatment for glioblastoma with temozolomide and radiotherapy, visited the Emergency Department due to acute abdominal pain and chemotherapy-induced febrile neutropenia. She was diagnosed with sepsis due to phlegmonous gastritis. After several weeks in the Intensive Care Unit with antimicrobial coverage, our patient was discharged. Conceptually, phlegmonous gastritis is a highly unusual bacterial infection of the gastric wall. Intrinsically related to the alteration of the immune system, and frequently linked to cancer patients, its high morbidity and mortality and exceptional casuistry require early treatment and clinical suspicion.
Subject(s)
Gastritis , Neoplasms , Sepsis , Female , Humans , Middle Aged , Gastritis/complications , Sepsis/complicationsABSTRACT
We propose an algorithm for the early detection of cancer from a case of paraneoplastic syndrome.
Subject(s)
Intestinal Pseudo-Obstruction , Paraneoplastic Syndromes , Antibodies, Antinuclear , Chronic Disease , Humans , Intestinal Pseudo-Obstruction/diagnosis , Paraneoplastic Syndromes/diagnosis , PrognosisABSTRACT
A 65-year-old woman who, in the context of dyspepsia and dismotility, was diagnosed with chronic intestinal pseudo-obstruction (CIPO) in small cell lung carcinoma (SCLC). In spite of a remarkable tumor response after the combination of chemotherapy and immunotherapy, an intestinal sepsis led to the patient's sudden death.
