Gastrointestinal neuroendocrine tumors are rare slow-growing tumors with distinct histological,biological,and clinical characteristics that have increased in incidence and prevalence within the last few decades.They c...Gastrointestinal neuroendocrine tumors are rare slow-growing tumors with distinct histological,biological,and clinical characteristics that have increased in incidence and prevalence within the last few decades.They contain chromogranin A,synaptophysin and neuron-specific enolase which are necessary for making a diagnosis of neuroendocrine tumor.Ki-67 index and mitotic index correlate with cellular proliferation.Serum chromogranin A is the most commonly used biomarker to assess the bulk of disease and monitor treatment and is raised in both functioning and non-functioning neuroendocrine tumors.Most of the gastrointestinal neuroendocrine tumors are non-functional.World Health Organization updated the classification of neuroendocrine tumors in 2017 and renamed mixed adenoneuroendocrine carcinoma into mixed neuroendocrine neoplasm.Gastric neuroendocrine tumors arise from enterochromaffin like cells.They are classified into 4 types.Only type I and type II are gastrin dependent.Small intestinal neuroendocrine tumor is the most common small bowel malignancy.More than two-third of them occur in the terminal ileum within 60 cm of ileocecal valve.Patients with small intestinal neuroendrocrine tumors frequently show clinical symptoms and develop distant metastases more often than those with neuroendocrine tumors of other organs.Duodenal and jejunoileal neuroendocrine tumors are distinct biologically and clinically.Carcinoid syndrome generally occurs when jejuno-ileal neuroendocrine tumors metastasize to the liver.Appendiceal neuroendocrine tumors are generally detected after appendectomy.Colonic neuroendocrine tumors generally present as a large tumor with local or distant metastasis at the time of diagnosis.Rectal neuroendocrine tumors are increasingly being diagnosed since the implementation of screening colonoscopy in 2000.Gastrointestinal neuroendocrine tumors are diagnosed and staged by endoscopy with biopsy,endoscopic ultrasound,serology of biomarkers,imaging studies and functional somatostatin scans.Various treatment options are available for curative and palliative treatment of gastrointestinal neuroendocrine tumors.展开更多
Maturity-onset diabetes of the young 3(MODY_(3))is an autosomal dominant monogenic diabetes mellitus characterized by defective p-cell function and non-insulin-dependent early-onset diabetes mellitus.The facts that pa...Maturity-onset diabetes of the young 3(MODY_(3))is an autosomal dominant monogenic diabetes mellitus characterized by defective p-cell function and non-insulin-dependent early-onset diabetes mellitus.The facts that patients with MODY_(3) are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive,make its diagnosis very challenging.In this study,we reported a case of MODY_(3),which was verified to be caused by a mutation in hepatocyte nuclear factor 1αgene(c.598C>X p.Arg200Trp).In addition,the patient had a neuroendocrine tumor simultaneously,and a KMT2D gene mutation(c.5587C>G,p.Prol863Ala)might be associated with this leson.展开更多
Primary tumors of the small intestine are uncommon and a correct preoperative diagnosis is extremely difficult. From 1964 to 1983, 102 cases of this disease were detected surgically at our hospital. In order to invest...Primary tumors of the small intestine are uncommon and a correct preoperative diagnosis is extremely difficult. From 1964 to 1983, 102 cases of this disease were detected surgically at our hospital. In order to investigate the problems involved in diagnosis and treatment, a comprehensive analysis of small intestinal tumors is made in this paper.展开更多
A 57-year-old male presenting with spontaneously relieved abdominal cramp and distension was admitted to theWest China Hospital.The diagnosis remained unclear after colonoscopy and computed tomography.Double contrast-...A 57-year-old male presenting with spontaneously relieved abdominal cramp and distension was admitted to theWest China Hospital.The diagnosis remained unclear after colonoscopy and computed tomography.Double contrast-enhanced ultrasonography was then performed and a neoplasm in the small intestine was suspected,supported by a thin-section computed tomography and positron emission tomography/computed tomography.This was confirmed pathologically after surgery to be a small intestinal G1 neuroendocrine tumor.Surgery was performed to remove approximately 25 cm of small bowel and a 3-cm solid mass located in the mesentery.The patient had a complete recovery and was tumor-free at the final follow-up.Small intestinal tumors including neuroendocrine tumors have always posed a diagnostic challenge.This case indicated that double contrastenhanced ultrasonography is feasible in detection of small intestinal neuroendocrine tumors,and it may be an advisable approach assisting diagnosis of small intestinal tumors.展开更多
文摘Gastrointestinal neuroendocrine tumors are rare slow-growing tumors with distinct histological,biological,and clinical characteristics that have increased in incidence and prevalence within the last few decades.They contain chromogranin A,synaptophysin and neuron-specific enolase which are necessary for making a diagnosis of neuroendocrine tumor.Ki-67 index and mitotic index correlate with cellular proliferation.Serum chromogranin A is the most commonly used biomarker to assess the bulk of disease and monitor treatment and is raised in both functioning and non-functioning neuroendocrine tumors.Most of the gastrointestinal neuroendocrine tumors are non-functional.World Health Organization updated the classification of neuroendocrine tumors in 2017 and renamed mixed adenoneuroendocrine carcinoma into mixed neuroendocrine neoplasm.Gastric neuroendocrine tumors arise from enterochromaffin like cells.They are classified into 4 types.Only type I and type II are gastrin dependent.Small intestinal neuroendocrine tumor is the most common small bowel malignancy.More than two-third of them occur in the terminal ileum within 60 cm of ileocecal valve.Patients with small intestinal neuroendrocrine tumors frequently show clinical symptoms and develop distant metastases more often than those with neuroendocrine tumors of other organs.Duodenal and jejunoileal neuroendocrine tumors are distinct biologically and clinically.Carcinoid syndrome generally occurs when jejuno-ileal neuroendocrine tumors metastasize to the liver.Appendiceal neuroendocrine tumors are generally detected after appendectomy.Colonic neuroendocrine tumors generally present as a large tumor with local or distant metastasis at the time of diagnosis.Rectal neuroendocrine tumors are increasingly being diagnosed since the implementation of screening colonoscopy in 2000.Gastrointestinal neuroendocrine tumors are diagnosed and staged by endoscopy with biopsy,endoscopic ultrasound,serology of biomarkers,imaging studies and functional somatostatin scans.Various treatment options are available for curative and palliative treatment of gastrointestinal neuroendocrine tumors.
基金supported by Renshu Fund of Hunan Provincial People's Hospital(RS201910).
文摘Maturity-onset diabetes of the young 3(MODY_(3))is an autosomal dominant monogenic diabetes mellitus characterized by defective p-cell function and non-insulin-dependent early-onset diabetes mellitus.The facts that patients with MODY_(3) are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive,make its diagnosis very challenging.In this study,we reported a case of MODY_(3),which was verified to be caused by a mutation in hepatocyte nuclear factor 1αgene(c.598C>X p.Arg200Trp).In addition,the patient had a neuroendocrine tumor simultaneously,and a KMT2D gene mutation(c.5587C>G,p.Prol863Ala)might be associated with this leson.
文摘Primary tumors of the small intestine are uncommon and a correct preoperative diagnosis is extremely difficult. From 1964 to 1983, 102 cases of this disease were detected surgically at our hospital. In order to investigate the problems involved in diagnosis and treatment, a comprehensive analysis of small intestinal tumors is made in this paper.
基金This article was supported by the National Natural Science Foundation of China(Grant No.81101061)the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(Grant No.ZYJC18037).
文摘A 57-year-old male presenting with spontaneously relieved abdominal cramp and distension was admitted to theWest China Hospital.The diagnosis remained unclear after colonoscopy and computed tomography.Double contrast-enhanced ultrasonography was then performed and a neoplasm in the small intestine was suspected,supported by a thin-section computed tomography and positron emission tomography/computed tomography.This was confirmed pathologically after surgery to be a small intestinal G1 neuroendocrine tumor.Surgery was performed to remove approximately 25 cm of small bowel and a 3-cm solid mass located in the mesentery.The patient had a complete recovery and was tumor-free at the final follow-up.Small intestinal tumors including neuroendocrine tumors have always posed a diagnostic challenge.This case indicated that double contrastenhanced ultrasonography is feasible in detection of small intestinal neuroendocrine tumors,and it may be an advisable approach assisting diagnosis of small intestinal tumors.
