Comparison of clinical characteristics between sporadic gastrinoma and multiple endocrine neoplasia type 1-related gastrinoma / 中华胃肠外科杂志

Objective: To compare clinical characteristics of sporadic gastrinoma and multiple endocrine neoplasia type 1 (MEN1)-related gastrinoma. Methods: A retrospective cohort study was conducted. Patients with clinical manifestations of Zollinger-Ellison syndrome, pathological diagnosis as neuroendocrine neoplasm (NEN) and complete clinical and follow-up data were enrolled. Patients with only high gastric acid secretion but without evidence of NEN, or with other concurrent non-NEN tumors were excluded. According to the above criteria, the clinicopathological data of 52 cases of gastrinoma diagnosed from April 2003 to December 2020 in the First Affiliated Hospital, Sun Yat-sen University, were collected. Patients who met the diagnostic criteria of gastrinoma and met one of the following conditions were diagnosed as MEN1-related gastrinoma: (1) the presence of pathogenic mutations in the MEN1 gene confirmed by genetic testing; (2) NENs involving two or more endocrine glands, namely, pituitary, parathyroid, thymic, pancreatic, and adrenal NENs; (3) NEN and at least one first-degree relatives diagnosed as MEN1. The remaining gastrinomas were defined as sporadic gastrinoma. Student's t test and chi-square test were used for statistical analysis. Clinicopathological characteristics, endoscopic findings, imaging characteristics, treatment, and prognosis of sporadic and MEN1-related gastrinoma were compared. Results: Among 52 patients with gastrinoma, 33 were sporadic gastrinoma and 19 were MEN1-related gastrinoma. The common symptoms of both sporadic and MEN1-related gastrinomas were diarrhea (24/33, 72.7%; 17/19, 89.5%) and abdominal pain (19/33, 57.6%; 9/19, 47.4%). Compared with sporadic gastrinoma, MEN1-related gastrinoma needed longer time for diagnosis [(7.4±4.9) years vs. (3.9±5.2) years, t=-2.355, P=0.022), were more likely multiple tumors [47.4% (9/19) vs. 15.2% (5/33), χ(2)=6.361, P=0.012], had smaller diameter [(1.7±1.0) cm vs. (3.1±1.8) cm, t=2.942, P=0.005), presented the lower tumor grade [G1: 83.3% (15/18) vs. 39.4% (13/33); G2: 11.1% (2/18) vs. 54.5% (18/33); G3: 5.6% (1/18) vs. 6.1% (2/33), Z=-2.766, P=0.006], were less likely to have serum gastrin which was 10 times higher than normal [11.8% (2/17) vs. 56.0% (14/33), χ(2)=8.396, P=0.004], had higher probability of complication with type 2 gastric neuroendocrine tumors (g-NET) [31.6% (6/19) vs. 3.0%(1/33), χ(2)=6.163, P=0.013], and had lower rate of liver metastasis [21.1% (4/19) vs. 51.5% (17/33), χ(2)=4.648, P=0.031). There was no obvious difference between sporadic gastrinomas and MEN1-related gastrinomas in endoscopic findings. Both types presented enlarged and swollen gastric mucosa under the stimulation of high gastric acid, and multiple ulcers in the stomach and duodenum could be seen. Gastrinoma with type 2 g-NET presented multiple polypoid raised lesions in the fundus and body of the stomach. (68)Ga-SSR-PET/CT scan had a 100% detection rate for both types while (18)F-FDG-PET/CT scan had a higher detection rate for sporadic gastrinoma compared with MEN1-related gastrinoma [57.9% (11/19) vs. 20.0% (3/15), χ(2)=4.970, P=0.026]. Among the patients with sporadic gastrinoma, 19 received surgical treatment, 1 underwent endoscopic submucosal dissection, 8 underwent transcatheter arterial embolization (TAE), and 5 underwent surgery combined with TAE. Among patients with MEN1-related gastrinoma, 13 received surgical treatment, and the other 6 received conservative treatment. The median follow-up of all the patients was 21.5 (1-129) months, and the 5-year survival rate was 88.4%. The 5-year survival rate of patients with sporadic and MEN1-related gastrinomas was 89.5% and 80.0% respectively (P=0.949). The 5-year survival rate of patients with and without liver metastasis was 76.2% vs. 100%, respectively (P=0.061). Conclusions: Compared with sporadic gastrinoma, MEN1-related gastrinoma has longer diagnosis delay, smaller tumor diameter, lower tumor grading, lower risk of liver metastasis, and is more likely to complicate with type 2 g-NET, while there is no difference in survival between the two tumor types.

Who were those MEN hiding behind the ulcers? / Journal of the ASEAN Federation of Endocrine Societies

@#Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease caused by a mutation in the MEN1 gene. We present a 65-year-old man with MEN1 who has primary hyperparathyroidism, microprolactinoma, meningioma and gastrinoma. He had undergone parathyroidectomy followed by tumour excision of meningioma. The duodenal gastrinoma lesion was inoperable as it was close to the superior mesenteric artery with high surgery risk. Medical therapy with octreotide LAR had been initiated and showed good biochemical response as well as disease progression control. Chemoembolization was proposed if the duodenum lesion reduces in size on maintenance treatment with octreotide LAR. This case highlights the challenges in managing this rare condition and octreotide LAR has shown to be effective in controlling the disease progression in MEN1 with inoperable gastrinoma

Refractory Peptic Ulcer Disease

The eradication of Helicobacter pylori and the widespread use of effective antisecretory therapies, including proton pump inhibitors, have improved the management of peptic ulcer disease. However, in some patients, peptic ulcer disease is refractory to 8 to 12 weeks of standard antisecretory drug treatment. For refractory peptic ulcer disease, further evaluation of the risk factors and causes of refractory peptic ulcer disease, including patient risk factors and noncompliance (smoking, nonsteroidal anti-inflammatory drug use, and noncompliance with medical treatment), persistent H. pylori infection, and non-H. pylori-related factors (giant ulcer, gastrinoma, infections other than H. pylori, and malignancy), is essential. The treatment should focus on the cause of the refractory peptic ulcer disease, avoiding smoking and nonsteroidal anti-inflammatory drug, the treatment of persistent H. pylori, use of high-dose proton pump inhibitors, or surgical excision of gastrinomas. Surgery should be considered in patients who are at high risk for complications and recurrent peptic ulcer disease despite medical treatment. In this review, I describe the diagnosis and treatment of refractory peptic ulcer disease.

Malignant pancreatic gastrinoma in a maned wolf (Chrysocyon brachyurus): case report / Gastrinoma pancreático maligno em lobo-guará (Chrysocyon brachyurus): relato de caso

A captive 12-year-old female maned wolf (Chrysocyon brachyurus), previously diagnosed with visceral leishmaniasis, developed severe myiasis in the right ear, followed by prostration and death. A firm solid nodule, measuring 1 x 3cm, was grossly observed in the pancreas. Histologically, there was neoplastic proliferation in the pancreas and pancreatic lymph node. Neoplastic cells had a neuroendocrine pattern, and were positive for gastrin and pancreatic polypeptide by immunohistochemistry. The wolf had also ulcerative gastritis. To the best of our knowledge is the first reported case gastrinoma in this species.(AU)

Uma fêmea lobo-guará de cativeiro (Chrysocyon brachyurus), diagnosticada previamente com leishmaniose visceral, desenvolveu miíase grave na orelha direita, seguida por prostação e morte. Um nódulo sólido, firme e medindo 1 x 3cm, foi macroscopicamente observado no pâncreas. Histologicamente, observou-se proliferação neoplásica no pâncreas e linfonodo pancreático. As células neoplásicas tinham um padrão neuroendócrino e foram positivas para gastrina e polipeptideo pancreático por imuno-histoquímica. A loba tinha também gastrite ulcerativa. Este é o primeiro caso descrito de gastrinoma nessa espécie.(AU)

Incidental Detection of Parathyroid Adenoma on Somatostatin Receptor PET/CT and Incremental Role of ¹⁸F-Fluorocholine PET/CT in MEN1 Syndrome / 대한핵의학회잡지

Multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by combined occurrence of tumors of endocrine glands including the parathyroid, the pancreatic islet cells, and the anterior pituitary gland. Parathyroid involvement is the most common manifestation and usually the first clinical involvement inMEN1 syndrome, followed by gastroentero-pancreatic neuroendocrine tumors (NETs). Here we present a case where the patient initially presented with metastatic gastric NET and a single parathyroid adenoma was detected incidentally on ⁶⁸Ga-DOTANOC PET/CT done as part of post ¹⁷⁷Lu-DOTATATE therapy (PRRT) follow-up. Further ¹⁸F-fluorocholine PET/CT showed four adenomas for which the patient subsequently underwent subtotal parathyroidectomy.

A Case of Multiple Endocrine Neoplasia Type 1 in Type 2 Diabetes Mellitus with Poor Glycemic Control / 임상당뇨병

The primary causes of uncontrolled diabetes are poor life-style, infection, ischemic heart disease and inappropriate usage of oral anti-diabetic agents and insulin. Supplementary causes are stroke, acute pancreatitis and endocrine diseases. Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant syndrome characterized by primary hyperparathyroidism, pituitary neoplasia, and foregut lineage neuroendocrine tumors, and is associated with increased glucose levels. We present a case of a 69-year-old woman who had polyuria, polydipsia, weight loss and hyperglycemia over 6 months. She had hypertrophy of the face, hand, and foot, and active bleeding and large folds were observed in the stomach and duodenum upon esophagogastroduodenoscopy. She also had high levels of IGF-1 and gastrin and got the failure of growth hormone suppression after an oral glucose load (75 g). These findings suggested a diagnosis of acromegaly and gastrinoma, which was clinically diagnosed along with MEN 1. The patient improved glycemic control and symptoms after being treated with somatostatin analogues and insulin therapy over a 5-month follow-up period. Here, we report a case of MEN 1 in type 2 diabetes mellitus with a poorly controlled blood glucose level. Clinicians should consider endocrine disease in patients with poor glycemic control in diabetes.

Síndrome de Zollinger-Ellison: revisión del conocimiento actual / Zollinger-Ellison syndrome: review of current knowledge

El síndrome de Zollinger-Ellison se caracteriza por la presencia de úlceras pépticas resistentes al tratamiento que se deben a la hipersecreción ectópica de gastrina por un tumor neuroendocrino, que es el gastrinoma y que resulta en la hipersecreción de ácido clorhídrico en el estómago. Este síndrome se presenta en forma esporádica y también se asocia al síndrome de neoplasia neuroendocrina múltiple de tipo 1. Se describen ambas presentaciones clínicas, así como también la fisiopatología, el diagnóstico, el estudio, el tratamiento y el pronóstico, enfatizando en los detalles técnicos de la cirugía. El pronóstico de los gastrinomas cuando son identificados precozmente es bueno, aun en aquellos casos malignos, por lo que la sospecha clínica asociada al estudio específico y al tratamiento de estos pacientes es fundamental. Dada la tecnología diagnóstica disponible en la actualidad, la identificación de estos tumores será cada vez más frecuente, por lo que el conocimiento de los detalles esenciales para su tratamiento es importante para el cirujano.

Zollinger-Ellison syndrome is characterized by peptic ulcers refractory to treatment secondary to ectopic gastrin hypersecretion by a neuroendocrine tumor called gastrinoma resulting in gastric hydrochloride acid hypersecretion. This syndrome occurs sporadically and is also associated to Multiple Neuroendocrine Neoplasia type 1. The present article describes their clinical presentations, as well as their pathophysiology, diagnosis, study, treatment and prognosis, emphasizing the surgical technical details. Early diagnosis of gastrinoma carries a good prognosis, even in those malignant cases. Consequently, clinical suspicion associated to specific study leading to diagnosis and treatment is fundamental for these patients. Due to the available current technology, the diagnosis of these tumors should be more common, as a consequence the knowledge of important details within their management is important for the surgeon.

Synchronous Peripancreatic Lymph Node Gastrinoma and Gastric Neuroendocrine Tumor Type 2

A 34-year-old man was referred to our hospital with gastric polypoid lesions and biopsy-confirmed neuroendocrine tumor (NET). Computed tomography (CT) revealed a 3×3.5×8-cm retroperitoneal mass behind the pancreas, with multiple hepatic metastases. His serum gastrin level was elevated to 1,396 pg/mL. We performed a wedge resection of the stomach, a right hemi-hepatectomy, and a retroperitoneal mass excision. After careful review of the clinical, radiological, histopathological, and immunohistochemical findings, peripancreatic gastrinoma, and synchronous gastric NET were ultimately diagnosed. We reviewed a CT scan that had been performed 6 years previously after surgery for a duodenal perforation. There was no evidence of gastric or hepatic lesions, but the retroperitoneal mass was present at the same site. Had gastrinoma been detected earlier, our patient could have been cured using less invasive treatment. This case demonstrates how important it is to consider Zollinger-Ellison syndrome in patients with a recurrent or aggressive ulcer.

Tumor neuroendócrino pancreático metastásico, caso clínico / Metastatic pancreatic neuroendocrine tumor: clinical case

Introducción: los insulinomas son tumores neuroendocrinos pancreáticos secretores de insulina, la incidencia en la población en general estimada es de 1 a 4 casos en un millón de habitantes por año. Los insulinomas constituyen el 60% de los tumores de páncreas, de los cuales el 90% son benignos y únicos; el 10% son múltiples, la mayoría asociados a MEN 1 (Neoplasia Endocrina Múltiple) y del 5 al 10% son malignas. La posibilidad de recidiva obliga a un diagnóstico y seguimiento a largo plazo. La característica clínica del insulinoma es la hipoglucemia en ayunas, con signos y síntomas de neuroglucopenia, que pueden estar precedidos o no por manifestaciones adrenérgicas. El tratamiento de elección es el quirúrgico; en etapas irresecables o avanzadas se proponen tratamientos paliativos o sintomáticos con quimioterapia o procedimientos mediante radiología intervencionista con pobres respuestas. Se ha demostrado que con nuevos tratamientos con inhibidores de la tirosina kinasa e inhibidores de la vía de la rapamicina en tumores neuroendocrinos pancráticos bien diferenciados las respuestas tanto en sobrevida libre de progresión así como sobrevida global mejoran importantemente. Caso: presentamos el caso de un hombre de 44 años, con diagnóstico de insulinoma y MEN 1, debutó con convulsiones tónico clónicas generalizadas tratado con pancreatectomia parcial, siete años más tarde, tras haber permanecido asintomático nuevo episodio de convulsiones, documentándose hipoglicemias severas y múltiples metástasis hepáticas, sometido a una pancreatoduodenectomia y como tratamiento sintomático recibió corticoides en altas dosis, diazóxido, octreotide mensual y dos líneas de quimioterapia, además de embolización de las metástasis hepáticas de mayor tamaño y por progresión de enfermedad se inició inhibidores de tirosin-kinasa por un período de tres meses y el paciente fallece.

Introduction: the Insulinomas are pancreatic neuroendocrine tumors secreting insulin. The incidence in the general population is estimated 1-4 per 1 000 000 yearly Insulinoma accounts for 60% of pancreatic tumors, of which 90% are benign and unique, 10% are multiple, mostly associated with MEN 1 (Multiple Endocrine Neoplasia), and 5-10% is malignant. The possibility of recurrence requires diagnosis and long-term monitoring. The clinical characteristic of insulinoma is fasting hypoglycemia, with signs and symptoms of neuroglucopenia, which may be preceded or not by adrenergic manifestations. Surgery is the treatment of choice, in irrsecable; and in advanced stages the proposed palliatives or symptomatic treatments are with chemotherapy or procedures through interventional radiologist with poor responses. It has been shown that new treatments with inhibitors of tyrosine kinase inhibitors and rapamycin pathway for pancreatic neuroendocrine well differentiated tumors, the response in both progression-free survival and overall survival signifcantly improved. Case study: we report the case of a 44 year old male of, diagnosed with insulinoma and MEN 1, debuted with tonic clonic seizures treated with partial pancreatectomy, 7 years later after a new episode of seizures documented severe hypoglycemia and multiple liver metastases, underwent a pancreatoduodenectomy and as symptomatic treatment received high-dose corticosteroids, diaxozido, octreotide monthly and 2 lines of chemotherapy, in addition to embolization of the larger liver metastases masses, and due to disease progression tyrosine kinase inhibitors was initiated for a period of 3 months and the patient dies.

Pancreatic neuroendocrine tumors: biology, diagnosis,and treatment / 癌症

Pancreatic neuroendocrine tumors (PNETs), a group of endocrine tumors arising in the pancreas, are among the most common neuroendocrine tumors. The genetic causes of familial and sporadic PNETs are somewhat understood, but their molecular pathogenesis remains unknown. Most PNETs are indolent but have malignant potential. The biological behavior of an individual PNET is unpredictable; higher tumor grade, lymph node and liver metastasis, and larger tumor size generally indicate a less favorable prognosis. Endocrine testing, imaging, and histological evidence are necessary to accurately diagnose PNETs. A 4-pronged aggressive treatment approach consisting of surgery, locoregional therapy, systemic therapy, and complication control has become popular in academic centers around the world. The optimal application of the multiple systemic therapeutic modalities is under development; efficacy, safety, availability, and cost should be considered when treating a specific patient. The clinical presentation, diagnosis, and treatment of specific types of PNETs and familial PNET syndromes, including the novel Mahvash disease, are summarized.

A Case of Zollinger-Ellison Syndrome in Multiple Endocrine Neoplasia Type 1 with Urolithiasis as the Initial Presentation / 대한소화기학회지

Zollinger-Ellison syndrome (ZES) is characterized by gastrinoma and resultant hypergastrinemia, which leads to recurrent peptic ulcers. Because gastrinoma is the most common pancreatic endocrine tumor seen in multiple endocrine neoplasia type I (MEN 1), the possibility of gastrinoma should be investigated carefully when patients exhibit symptoms associated with hormonal changes. Ureteral stones associated with hyperparathyroidism in the early course of MEN 1 are known to be its most common clinical manifestation; appropriate evaluation and close follow-up of patients with hypercalcemic urolithiasis can lead to an early diagnosis of gastrinoma. We report a patient with ZES associated with MEN 1, and urolithiasis as the presenting entity. A 51-year-old man visited the emergency department with recurrent epigastric pain. He had a history of calcium urinary stone 3 years ago, and 2 years later he had 2 operations for multiple jejunal ulcer perforations; these surgeries were 9 months apart. He was taking intermittent courses of antiulcer medication. Multiple peripancreatic nodular masses, a hepatic metastasis, parathyroid hyperplasia, and a pituitary microadenoma were confirmed by multimodal imaging studies. We diagnosed ZES with MEN 1 and performed sequential surgical excision of the gastrinomas and the parathyroid adenoma. The patient received octreotide injection therapy and close follow-up.

Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1

Surgical approaches to pancreatic endocrine tumors associated with multiple endocrine neoplasia type 1 may differ greatly from those applied to sporadic pancreatic endocrine tumors. Presurgical diagnosis of multiple endocrine neoplasia type 1 is therefore crucial to plan a proper intervention. Of note, hyperparathyroidism/multiple endocrine neoplasia type 1 should be surgically treated before pancreatic endocrine tumors/multiple endocrine neoplasia type 1 resection, apart from insulinoma. Non-functioning pancreatic endocrine tumors/multiple endocrine neoplasia type 1 >1 cm have a high risk of malignancy and should be treated by a pancreatic resection associated with lymphadenectomy. The vast majority of patients with gastrinoma/multiple endocrine neoplasia type 1 present with tumor lesions at the duodenum, so the surgery of choice is subtotal or total pancreatoduodenectomy followed by regional lymphadenectomy. The usual surgical treatment for insulinoma/multiple endocrine neoplasia type 1 is distal pancreatectomy up to the mesenteric vein with or without spleen preservation, associated with enucleation of tumor lesions in the pancreatic head. Surgical procedures for glucagonomas, somatostatinomas, and vipomas/ multiple endocrine neoplasia type 1 are similar to those applied to sporadic pancreatic endocrine tumors. Some of these surgical strategies for pancreatic endocrine tumors/multiple endocrine neoplasia type 1 still remain controversial as to their proper extension and timing. Furthermore, surgical resection of single hepatic metastasis secondary to pancreatic endocrine tumors/multiple endocrine neoplasia type 1 may be curative and even in multiple liver metastases surgical resection is possible. Hepatic trans-arterial chemo-embolization is usually associated with surgical resection. Liver transplantation may be needed for select cases. Finally, pre-surgical clinical and genetic diagnosis of multiple endocrine neoplasia type 1 syndrome and localization of multiple endocrine neoplasia type 1related tumors are crucial for determining the best surgical strategies in each individual case with pancreatic endocrine tumors.

The Current Strategy for Managing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1 (MEN1) is an inherited autosomal dominant disease presenting with pancreatic neuroendocrine tumors (pNETs), parathyroid tumors, or pituitary tumors. Using the PubMed database, we reviewed the literature on information regarding the proper diagnosis and treatment of MEN1-associated pNET. Many cases of MEN1-associated pNET are functioning pNETs. Gastrinomas and insulinomas tend to occur frequently in the duodenum and pancreas, respectively. In addition to diagnostic imaging, the selective arterial secretagogue injection test (SASI test) is useful for localizing functioning pNET. The standard treatment is surgical resection. However, in the case of a functioning pNET, the tumor should first be accurately located using the SASI test before an appropriate surgical method is selected. In cases of a MEN1-associated non-functioning pNET that exceeds 2 cm in diameter, the incidence of distant metastasis is significantly increased, and surgery is recommended. In cases of unresectable pNET, a somatostatin analog has been shown to demonstrate antitumor effects and is considered to be a promising treatment. In addition, molecular-targeted drugs have recently been found to be effective in phase III clinical trials.

Síndrome de Zollinger: ellison / Zollinger' syndrome: ellison

El Síndrome de Zollinger – Ellison es una rara enfermedadoriginada por tumores denominados Gastrinomas, ocasionandoaltos niveles de gastrina que produce hipersecreción ácida einclusive úlceras gástricas.Presentamos una paciente de 20 años con historia de doloren epigastrio de 2 meses de evolución acompañado de náuseas,vómitos y pérdida de peso con antecedente de hemorragia digestivaalta por úlcera duodenal, que al examen físico revelóuna tumoración en epigastrio. La TAC abdominal contrastadamostró masa tumoral en cola de páncreas. Fue intervenida quirúrgicamenteefectuándose una Pancreatectomia corporocaudaly esplenectomía, con evolución postquirúrgica favorable. El estudioanatomopatológico informa Gastrinoma Pancreático.

Tumores neuroendocrinos del páncreas / Pancreatic neuroendocrine tumors

Pancreatic neuroendocrine tumors are infrequent and slow-growing neoplasms. They are classified basedon their clinical presentation as functioning and nonfunctioning tumors. The most common functionaltumors are the insulinoma and gastrinoma. They can be sporadic or be part of hereditary forms as MEN-1.The diagnosis is based on the detection of the specific clinical syndrome in association of high levels of the substance secreted by the tumor and conventional imaging studies or others such as stimulation tests, somatostatin receptor scintigraphy and endoscopic ultrasound. In general, these tumors have a better prognosis than the pancreatic adenocarcinoma and they can show metastasis to the liver and infrequently, in bones. The treatment can be managed medically diminishing the inappropriate secretion of the substances by the tumor using, for example, the somatostatin analogs. Surgery should be always considered, especially in case of insulinomas, small non-functioning tumors, and small gastrinomas that can be managed with surgery enucleation. More advanced resective surgery, such as Whipple resection, are not routinely recommended and they should be limited to selected patients. In advanced tumors, there are other treatment alternatives, for example, hepatic resection, radiofrequency, chemotherapy and new agents such as sunitinib and everolimus.

Los tumores neuroendocrinos pancreáticos son infrecuentes y de crecimiento lento. Se clasifican en tumores funcionantes o no funcionantes (TNEP-NF), de acuerdo a la presentación clínica. Los tumores funcionantes más frecuentes son los insulinomas y los gastrinomas. Pueden ocurrir en forma esporádica o asociados a síndromes hereditarios como la NEM- 1, entre otros. El diagnóstico se basa en la detección del síndrome clínico específico asociado a la demostración de niveles elevados de la sustancia secretada y exámenes imagenológicos convencionales u otros más específicos como de estimulación, cintigrafía de receptores de somatostatina y endosonografía. En general, tienen mejor pronóstico que los adenocarcinomas pancreáticos y pueden dar metástasis hepáticas y con menor frecuencia, óseas. El tratamiento puede ser médico disminuyendo la secreción inapropiada de las sustancias producidas por el tumor como los análogos de somatostatina. La cirugía siempre debe ser considerada, especialmente en caso de insulinomas, pequeños TNEP-NF, y gastrinomas pequeños, que pueden ser tratados con enucleación quirúrgica. Las cirugías resectivas más avanzadas, como la operación de Whipple no están recomendadas en forma rutinaria y sólo deben ser utilizadas en pacientes seleccionados. En casos de tumores avanzados, existen alternativas de tratamiento, como la resección hepática, radiofrecuencia, quimioterapia, y terapia con nuevos agentes en estudio como el sunitinib y everolimus.

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.

Recent Update of Radiologic Findings and Interventional Methods of Pancreas Endocrine Tumor / 대한내과학회지

Pancreatic endocrine tumors (PET) are rare neoplasms of the pancreas accounting for less than 5% of all primary pancreatic malignancies. Insulinomas, gastrinomas, glucagonomas and somatostatinomas is included in PET. PETs are usually classified into functioning and non-functioning tumors and presents with a range of benignity or malignancy. It is very important to accurate diagnose the PET location and to predict the benignity or malignancy of PET in terms of the treatment strategy, because PET have higher respectability, better response to chemotherapy and better prognosis compared to that of pancreatic adenocarcinoma. The utility and reliability of different imaging modalities depends on the characteristics of PETs, specifically their size. Functioning PET tend to be small (less than 2 cm), well circumscribed, homogeneous, and usually shown as strong enhancement on contrast enhanced CT or MR imaging. Non-functioning PET tend to be larger (4~10 cm), heterogeneous, and may contain the cystic areas of degeneration and necrosis. In this article, we present the various imaging findings of PET according to recent WHO classification.

Tumores neuroendocrinos gastroenteropancreáticos / Gastroenteropancreatic neuroendocrine tumors (GEP-NETS)

Los tumores neuroendocrinos gastroenteropancreáticos son neoplasias raras distribuidas a lo largo del tubo digestivo y poseen características peculiares, como la captación de sales de plata, la expresión de marcadores de célula neuroendocrina y los gránulos secretorios de contenido hormonal. Según su tamaño, localización anatómica y la presencia de metástasis, estos tumores debutan con distintas características clínicas y pronóstico. El diagnóstico temprano, que requiere de un alto grado de sospecha y una confirmación con estudios especializados, resulta invaluable para tratar estas lesiones a tiempo y aumentar la sobrevida de los pacientes. El tratamiento quirúrgico es la herramienta de primera mano, y otras terapias médicas ayudan a mejorar los síntomas y la calidad de vida de aquellos pacientes con lesiones irresecables. En esta revisión, se tratan los aspectos más relevantes en cuanto a la clasificación, morfología, localización, diagnóstico y tratamiento de estas neoplasias gastrointestinales, y al final, se expone la única experiencia colombiana sobre la epidemiología y el manejo de los tumores neuroendocrinos.

Gastroenteropancreatic neuroendocrine tumors (GEP-NETS) are rare neoplasms which can occur anywhere in the gastrointestinal tract. Their particular characteristics include uptake of silver salts, neuroendocrine cell marker expression and hormonal secretory granules. Depending on their size, anatomical location and upon whether or not metastasis has occurred, these tumors can show different clinical patterns and have different prognoses. Early diagnosis is essential for treating these lesions and improving the patients’ prognoses, but it requires a high degree of suspicion and confirmation by special testing. Surgical treatment is the first choice, but other medical therapy can be helpful for patients who have unresectable disease. This review presents the most relevant aspects of classification, morphology, methods of locating tumors, diagnosis and treatment of GEP-NETS. It presents only the Colombian experience in the epidemiology and management of these tumors.

Síndrome de Zollinger Ellison secundario a gastrinoma duodenal: reporte de un caso y revisión de la literatura / Zollinger Ellison syndrome secondary to duodenal gastrinoma: a case report and literature review

El síndrome de Zollinger Ellison es una entidad producto de un tumor neuroendocrino hipersecretor de gastrina, que genera acidez gástrica exagerada. Entre el 60 a 90% de los casos se comparta de forma maligna, se observan nódulos metastásicos en 50 a 67% de los casos, y se localizan principalmente en el denominado triángulos de los gastrinomas. Los métodos de imagen convencionales poseen poca sensibilidad en la detección de éstas lesiones, sobre todo para las menores a 1 cm. La endosonografía conjunto a la cintilografía de receptores de Somatostatina, son los métodos de imagen estándar de oro para diagnosticar estas lesiones. Presentamos el caso de un paciente masculino de 57 años, que consultó con pancreatitis aguda, enfermedad ulceropéptica y diarrea, a quien se detectó y estadió una lesión única mediante endosonografía, recibió tratamiento quirúrgico de forma exitosa...

Zollinger-Ellison syndrome is a disorder caused by a gastrin hypersecretory neuroendocrine tumor which produces severe gastric acidity. In 60% to 90% of the cases it`s malignant; metastatic nodules are observed in 50% to 67% of the cases, and are located primarily in the so called Gastrinoma triangle. The conventional imaging methods have poor sensibility in detecting these lesions, especially for those that are less than 1 cm. The endosonography conjoint with the Somatostatin receptors scintillography are the standard imaging gold methods to diagnose these lesions. We report the case of a male 57 years-old patient who came to consult with acute pancreatitis, peptic ulcer disease and diarrhea. By endosonography we detected and staged a single lesion. He received surgical treatment successfully...

A case of Zollinger-Ellison syndrome with MEN-1 / 대한내과학회지

Zollinger-Ellison syndrome (ZES) is a clinical syndrome caused by excessive gastric acid secretion by gastrinoma, characteristically causing peptic disease and/or gastroesophageal reflux disease. Approximately one third of patients with gastrinoma have multiple endocrine neoplasia type 1 (MEN-1). A 56-year-old man was admitted for abdominal pain and diarrhea lasting for 2 weeks. The endoscopic findings revealed severe reflux esophagitis and multiple ulcers at the bulb and second portion of the duodenum. He was diagnosed as ZES based on typical clinical features such as markedly elevated fasting gastrin level (> or =1,263 pg/mL) and findings from a CT scan and somatostatin receptor scan. Pathologic findings after the operation revealed malignant gastrinoma. He was confirmed to have parathyroid adenoma and MEN-1. Despite antisecretory therapy with proton pump inhibitors, an esophageal stricture developed, and we performed esophageal balloon dilatation and stent insertion.