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1.
J Assoc Physicians India ; 68(5): 51-52, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32610868

RESUMO

MEN I inherited as an autosomal dominant disorder leads to hyperplastic/ neoplastic changes in parathyroid, pituitary and endocrine pancreas along with other characteristic tumours. Hyperparathyroidism is the most common manifestation of MEN I. Our case was a female patient aged 42 years who was diagnosed with parathyroid adenoma, coincident with pancreatic neoplasm and adrenal adenoma. Hyperparathyroidism was noted initially and hemiparathyroidectomy was performed. Though adrenal adenoma and pancreatic neoplasm were detected on CECT, patient was symptom free from them and thus steps were taken to treat the chief complaint of presentation which was multiple bone pains. Post-operatively patient's serum Ca levels, serum PTH levels dropped drastically to normal ranges and there was remarkable improvement in complaints of patient. A multidisciplinary approach involving physicians, endocrinologists, oncologists, ENT surgeons and radiologists is pivotal for optimizing patient treatment. Treatment consists of surgery and drug therapy, often in association with radiotherapy or chemotherapy.


Assuntos
Hiperparatireoidismo , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas , Neoplasias das Paratireoides , Adulto , Feminino , Humanos
2.
Clin Nucl Med ; 45(6): e281-e282, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32349092

RESUMO

Managing decisions of pancreatic neuroendocrine tumors (pNETs) can be challenging because of different clinical presentations and prognosis. A 31-year-old woman with multiple endocrine neoplasia type 1, including a suspicious pNET, was assessed with Ga-DOTATOC and F-FDG PET. A high Ga-DOTATOC uptake was visualized in the entire pNET, whereas a high F-FDG PET uptake was present only in the upper part of the tumor. After surgery, pathology confirmed the pNET with a double component: an upper grade 2 with a Ki67 of 11% with the high F-FDG PET uptake, and a lower grade 1 with a Ki67 of 2%. Combined Ga-DOTATOC/F-FDG PET predicts the grade in heterogeneous pNETs.


Assuntos
Fluordesoxiglucose F18 , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico por imagem , Tumores Neuroendócrinos/diagnóstico por imagem , Octreotida/análogos & derivados , Compostos Organometálicos , Neoplasias Pancreáticas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Adulto , Humanos , Masculino , Neoplasia Endócrina Múltipla Tipo 1/patologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Prognóstico
3.
Medicina (B Aires) ; 80(2): 181-184, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-32282328

RESUMO

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. FIPA kindred can be homogeneous (all adenomas affected in the family having the same tumor phenotype) or heterogeneous (different tumor phenotypes in the affected members). We describe a Congolese family in which two sisters and a cousin were diagnosed with a prolactinoma (homogenous FIPA) at the ages of 29, 32 and 40 years, respectively. The patients presented with macroadenomas at the time of diagnosis, non-invasive tumors and good biological response to cabergoline treatment (maximum dose of 1.5 mg/weekly). Of these two sisters, one went through a pregnancy without complications. Because no MEN1 and CNC clinical and biochemical features were detected during the 12-year follow-up, these genes were not investigated. The genetic analysis of the aryl hydrocarbon receptor interacting protein (AIP) was normal. As nearly 80% of patients with FIPA do not have a mutation in the AIP gene, future studies in these families are required to identify other affected genes involved in their physiopathology.


Assuntos
Adenoma/genética , Adenoma Hipofisário Secretor de Hormônio do Crescimento , Neoplasias Hipofisárias/genética , Adenoma/diagnóstico , Adulto , Feminino , Humanos , Espectroscopia de Ressonância Magnética , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Hipofisárias/diagnóstico
4.
Ann R Coll Surg Engl ; 102(6): e111-e114, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32233855

RESUMO

INTRODUCTION: Bilateral giant parathyroid adenoma in the absence of multiple endocrine neoplasia (MEN) type 1 is extremely rare and literature on this subject is limited. CASE HISTORY: A 79-year-old man presented with acute kidney injury secondary to hypercalcaemia. Blood test results indicated primary hyperparathyroidism. Ultrasonography revealed bilateral parathyroid adenomas measuring 19.4mm x 19.5mm x 18.8mm (left) and 15.2mm x 18.3mm x 19.6mm (left) whereas on computed tomography, the measurements were 31mm x 20mm (left) and 30mm x 14mm (right). Intraoperatively, giant adenomas measuring 50mm x 25mm x 12mm (left, weighing 8.101g) and 48mm x 22mm x 10mm (right, weighing 7.339g) were identified and excised. Parathyroid hormone level dropped from 44.6pmol/l preoperatively to 8.9pmol/l postoperatively (normal range 1.3-7.6pmol/l). The patient was discharged with no complications. CONCLUSIONS: We report a rare phenomenon where bilateral giant parathyroid adenoma occurred in the absence of MEN type 1. It highlights the importance of cross-sectional imaging in delineating the anatomy of adenomas as their size can be grossly underestimated by ultrasonography alone.


Assuntos
Adenoma/diagnóstico , Hiperparatireoidismo Primário/diagnóstico , Glândulas Paratireoides/patologia , Neoplasias das Paratireoides/diagnóstico , Paratireoidectomia , Lesão Renal Aguda/sangue , Lesão Renal Aguda/etiologia , Adenoma/complicações , Adenoma/patologia , Adenoma/cirurgia , Idoso , Cálcio/sangue , Diagnóstico Diferencial , Humanos , Hipercalcemia/sangue , Hipercalcemia/etiologia , Hiperparatireoidismo Primário/sangue , Hiperparatireoidismo Primário/etiologia , Hiperparatireoidismo Primário/cirurgia , Masculino , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/cirurgia , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/patologia , Neoplasias das Paratireoides/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Carga Tumoral , Ultrassonografia
5.
BMC Neurol ; 20(1): 76, 2020 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-32126984

RESUMO

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported. CASE PRESENTATION: This case report observed a family that presented with MEN1 p.L105Vfs mutation, and two of the family members had been diagnosed with thymic neuroendocrine tumor combined with MEN1. To the best of our knowledge, this is the first time such a mutation in the MEN1 gene has been reported. The proband presented with thymic neuroendocrine tumor, parathyroid adenoma and rectum adenocarcinoma. The son of the proband presented with thymic neuroendocrine tumor, gastrinoma, hypophysoma and parathyroid adenoma. Genetic testing revealed the frameshift mutation p.L105Vfs, leading to the identification of one carrier in the pedigree (the patient's younger sister). The proband then underwent parathyroidectomy at the age of 26 years (in 1980) for a parathyroid adenoma. Subsequently, the patient underwent thymectomy, radiotherapy and chemotherapy. The patient is now 64 years old, still alive and still undergoing Lanreotide therapy. CONCLUSION: Thymic neuroendocrine MEN1 is rare, but it accounts for almost 20% of MEN1-associated mortality. Consequently, we should focus on regular clinical screening of the thymus in MEN1 patients.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/genética , Tumores Neuroendócrinos/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias do Timo/genética , Mutação da Fase de Leitura , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
6.
Ann Endocrinol (Paris) ; 81(1): 39-43, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31982106

RESUMO

CONTEXT: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning tumors, followed by gastrinomas and insulinomas. Due to their small size, the diagnostic performance of conventional MRI and CT imaging is highly variable, with a real risk of false-negatives. Functional imaging on 111In-DTPA-Octreotide SPECT somatostatin receptor scintigraphy (Octreoscan®) is the modality of choice, but shows only 80% sensitivity. Alternatively, 18F-fluorodihydroxyphenylalanine (FDOPA) and, more recently, 68Ga-Dotatate PET/CT imaging are valuable options in case of negative Octreoscan®. CASE REPORT: A 55 old-year woman diagnosed with MEN1 syndrome, presented with multiple asymptomatic but progressive PNETs revealed on ultrasound endoscopy. Octreoscan® was negative, as was 18F-FDOPA PET/CT, whereas 68Ga-Dotatate PET/CT detected all PNETs found on endoscopy. CONCLUSION: We here report the first case of a MEN1 patient who successfully underwent a 68Ga-Dotatate PET/CT for detection and follow-up of PNETs, while both Octreoscan® and 18F-FDOPA PET/CT were negative.


Assuntos
Di-Hidroxifenilalanina/análogos & derivados , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Compostos Organometálicos , Neoplasias Pancreáticas/diagnóstico , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/patologia , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/patologia
7.
Eur J Endocrinol ; 182(1): 35-45, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31658439

RESUMO

Objective: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome usually caused by loss-of-function mutations in the MEN1 gene. However, a minority of patients who fulfill the criteria for MEN1 are not found to harbor MEN1 mutations. Besides, some of these individuals, present with a subtly different phenotype suggestive of sporadic disease. The aim of the present study was to investigate the genetic architecture of mutation-negative MEN1. Design: Fourteen patients with a clinical diagnosis (n = 13) or suspicion (n = 1) of MEN1 who had negative genetic screening of the MEN1 gene were included. Methods: Constitutional DNA from the included patients, as well as tumor DNA from six of the patients, was subjected to whole genome sequencing. Constitutional variants were filtered against population databases and somatic variants were studied under a tumor-suppressor model. Results: Three patients carried pathogenic variants (two splice-site variants, one missense variant) in MEN1 that had not been detected during routine clinical sequencing, one patient carried a pathogenic variant in CASR and one patient carried a gross deletion on chromosome 1q which included the CDC73 gene. Analysis of matched tumor DNA from six patients without mutations did not detect any recurrent genes fulfilling Knudson's two-hit model. Conclusion: These results highlight the possibility of germline mutations being missed in routine screening, the importance of considering phenocopies in atypical or mutation-negative cases. The absence of apparent disease-causing mutations suggests that a fraction of MEN1 mutation-negative MEN1 cases may be due to the chance occurrence of several endocrine tumors in one patient.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação/genética , Sequenciamento Completo do Genoma/métodos , Feminino , Testes Genéticos , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Proteínas Supressoras de Tumor/genética
8.
J Clin Endocrinol Metab ; 105(1)2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31586182

RESUMO

PURPOSE: Pancreatic neuroendocrine tumors (pNETs) are frequent in multiple endocrine neoplasia type 1 (MEN1) syndrome. They are usually not surgically treated unless larger than 1 to 2 cm or a growth rate > 0.5 cm per year. Somatostatin analogues represent one of the main therapeutic options in pNETs, but they have never been prospectively investigated in MEN1-related pNETs. The aim of this study was to prospectively evaluate the effectiveness of lanreotide in patients with MEN1-related pNETs < 2 cm. METHODS: MEN1 patients with 1 or more pNETs < 2 cm of maximal diameter were considered. Study design was prospective observational, comparing patients treated with lanreotide autogel 120 mg every 28 days (LAN group) and patients in active surveillance, not receiving any therapy (AS group). RESULTS: Forty-two patients were enrolled: 23 in LAN and 19 in AS group. Median follow-up was 73 months. Initial imaging identified a total of 91 pNETs. The median progression-free survival was significantly longer in the LAN than in the AS group (median not reached vs 40 months, P < 0.001). In the LAN group, 4 patients had an objective tumor response, 15 patients had stable disease, while 4 had tumor progression. In the AS group, 13 patients had pNET progression, while 6 were stable. CONCLUSIONS: This is the first prospective study evaluating the efficacy of somatostatin analogues in MEN1-related pNETs. These findings highlight that lanreotide autogel is effective as antiproliferative therapy in MEN1-related pNETs < 2cm, suggesting the utility of somatostatin analogues to arrest the development of tumor lesions as well as to delay or avoid pancreatic surgery.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasia Endócrina Múltipla Tipo 1/complicações , Tumores Neuroendócrinos/tratamento farmacológico , Neoplasias Pancreáticas/tratamento farmacológico , Peptídeos Cíclicos/uso terapêutico , Somatostatina/análogos & derivados , Conduta Expectante/estatística & dados numéricos , Adulto , Idoso , Estudos de Casos e Controles , Progressão da Doença , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/etiologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/etiologia , Neoplasias Pancreáticas/patologia , Prognóstico , Estudos Prospectivos , Somatostatina/uso terapêutico , Carga Tumoral , Adulto Jovem
9.
Semin Ultrasound CT MR ; 40(6): 469-482, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31806146

RESUMO

Pancreatic neuroendocrine tumors (PNETs) are uncommon pancreatic masses which arise from amine precursor and uptake decarboxylation cells. They are classified as functional or nonfunctional based on the associated clinical symptoms. Insulinomas and gastrinomas are the most common functional tumors. PNETs are also classified based on their biologic behavior as benign or malignant. While most PNETs are sporadic, a small percentage are associated with syndromes such as multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, and are usually multiple in those cases. On imaging, most PNETs are circumscribed and hypervascular masses; however, larger tumors are often heterogeneous. The presence of calcification, cystic degeneration, and necrosis increases the likelihood of malignancy and carries a poor prognosis. Metastases have similar imaging appearance to the primary lesion and are most commonly seen in the liver, locoregional lymph nodes, and bone. This article reviews the pathologic and radiologic features of pancreatic neuroendocrine tumors as well as imaging mimics and their distinguishing features.


Assuntos
Imagem Multimodal , Tumores Neuroendócrinos/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Meios de Contraste , Diagnóstico Diferencial , Humanos , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 1/patologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Doença de von Hippel-Lindau/diagnóstico por imagem , Doença de von Hippel-Lindau/patologia
10.
Khirurgiia (Mosk) ; (12): 111-120, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31825351

RESUMO

Gastrointestinal neuroendocrine tumors are rare neoplasms. Currently, incidence of gastric neuroendocrine tumors (gNETs) is being significantly increased. There are 3 groups of gNETs: types I, II and III. Each type has important features regarding clinical picture, prognosis and treatment strategy. Type I is the most common (70-80%) and associated with chronic atrophic gastritis including autoimmune gastritis and Helicobacter associated atrophic gastritis. Type II (5-6%) is associated with multiple endocrine neoplasia type I and Zollinger-Ellison syndrome (MEN I - ZES). Both types are characterized by hypergastrinemia and small tumor dimension. These neoplasms are multiple and mostly benign. On the contrary, NETs type III (10-15%) is not associated with hypergastrinemia and represented by single large neoplasms. Tumors are malignant as a rule. Therefore, surgical resection and chemotherapy are preferred for these tumors. Endoscopic surgery followed by observation is acceptable for almost all NETS type I and II. At the same time, this approach is advisable only for small and highly differentiated neoplasms type III.


Assuntos
Tumores Neuroendócrinos/classificação , Tumores Neuroendócrinos/cirurgia , Neoplasias Gástricas/classificação , Neoplasias Gástricas/cirurgia , Gastrite Atrófica/complicações , Gastrite Atrófica/cirurgia , Humanos , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Tumores Neuroendócrinos/complicações , Prognóstico , Neoplasias Gástricas/complicações , Síndrome de Zollinger-Ellison/complicações , Síndrome de Zollinger-Ellison/cirurgia
11.
World J Surg Oncol ; 17(1): 213, 2019 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-31818296

RESUMO

BACKGROUND: Zollinger-Ellison syndrome (ZES) is a rare condition characterized by hypersecretion of gastrin by gastrinoma tumors leading to severe peptic ulcer disease with potential development of gastric carcinoid tumors. Herein, we report the clinical course of a 68-year-old patient with multiple endocrine neoplasia type 1 (MEN-1) who underwent several surgeries to ultimately undergo optimal tumor cytoreduction of locally advanced gastrinomas and symptomatic gastric carcinoids. The patient was subsequently maintained on octreotide long-acting release (LAR). This case report supports consideration for aggressive tumor cytoreduction and octreotide in similar patients with MEN-1-associated ZES for durable disease control and symptom management. CASE PRESENTATION: The patient is a 68-year-old male with multiple endocrine neoplasia type 1 (MEN-1), diagnosed in 1993 after presenting with recurrent renal calculi and hypercalcemia. Soon thereafter, he presented with symptoms and elevated gastrin levels suggestive of ZES prompting abdominal exploration with partial resection of the duodenum to remove gastrinoma tumor nodules. Within 4 years of the operation, he represented with intractable hypergastrinemia despite optimal medical management with peak gastrin levels exceeding 29,000 pg/mL, in 2006. In January 2007, the patient returned to the operating room for resection of regional peripancreatic and perigastric lymph nodes and enucleation of pancreatic body and tail gastrinoma tumors. Although his gastrin level decreased to 5000 pg/mL with resultant improvement of symptoms, in less than 2 years, he developed disease progression with obstructive symptomatology from enlarging gastric carcinoids and rising gastrin levels. In May of 2008, he underwent pancreaticoduodenectomy and near-total gastrectomy. Since June of 2008, the patient shows no demonstrable progression of disease and remains asymptomatic on LAR octreotide (30 mgs). Gastrin levels have been well controlled (range, 100-624 pg/mL; current 114 pg/mL). CONCLUSION: Success of this procedure in our case report highlights the potential role for optimal tumor cytoreduction and LAR octreotide to control disease progression in a patient with MEN-I and Zollinger-Ellison syndrome with locally advanced gastrinoma and secondary large gastric carcinoids.


Assuntos
Antineoplásicos Hormonais/uso terapêutico , Procedimentos Cirúrgicos de Citorredução/métodos , Neoplasia Endócrina Múltipla Tipo 1/terapia , Octreotida/uso terapêutico , Síndrome de Zollinger-Ellison/terapia , Idoso , Terapia Combinada , Humanos , Masculino , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/patologia , Prognóstico , Síndrome de Zollinger-Ellison/complicações , Síndrome de Zollinger-Ellison/patologia
12.
Medicine (Baltimore) ; 98(50): e18275, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852099

RESUMO

RATIONALE: Surgery for patients with multiple endocrine neoplasia type 1(MEN-1) related gastrinoma remains controversial and total pancreatectomy (TP) has rarely been performed. We reported a case of patient with MEN-1 related gastrinoma treated by TP. PATIENT CONCERNS: A 46-year-old female was admitted to our hospital due to abdominal distension and diarrhea for 2 years. The patient underwent pituitary tumor resection and kidney stone lithotripsy 10 years ago. DIAGNOSES: Abdominal computed tomography showed single lesion in the duodenum and multiple lesions throughout the pancreas. The patient's gastrin level was significantly increased (1080 pg/ml). These findings in combination with the pituitary tumor history suggested the presence of gastrinoma associated with MEN-1 syndrome. INTERVENTION: An exploratory laparotomy was performed. Intraoperative ultrasound confirmed the numerous tumors diffusely distributed throughout the pancreas and the patient eventually underwent TP. OUTCOMES: Twelve months later, the patient was hospitalized again for anastomotic fistula and underwent a partial gastrectomy, small bowel resection and drainage of the abscess. One month later, she received gastrostomy and jejunostomy due to digestive tract fistula, and died a month later (14 months after TP). LESSONS: There still might be the possibility of recurrence even after radical surgical resection of gastrinomas, and we suggest the need to measure the basal acid output and maintain regular anti-acid therapy in the long-term follow-up of patients with MEN-1 related gastrinoma.


Assuntos
Neoplasias Duodenais/etiologia , Gastrinoma/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/etiologia , Pancreatectomia/efeitos adversos , Neoplasias Pancreáticas/cirurgia , Biópsia , Neoplasias Duodenais/diagnóstico , Evolução Fatal , Feminino , Gastrinoma/diagnóstico , Humanos , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Tomografia Computadorizada por Raios X
13.
Pan Afr Med J ; 33: 238, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692695

RESUMO

Multiple endocrine neoplasia type 1 (MEN1) is a rare disease, defined as a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodenopancreatic endocrine tissue. This disorder, inherited in an autosomal dominant pattern, is caused by mutations in the MEN1 gene encoding the tumor suppressor menin and located on chromosome 11q13. However, sporadic cases account for 8-14%. The first endocrine lesion may be solitary in approximately 75% of cases. However, all major alterations can be inaugural. We here report a case of multiple endocrine neoplasia type 1 revealed by aggressive somatoprolactinic pituitary adenoma which didn't respond to conventional treatment. The detection of primary hyperparathyroidism as well as neuroendocrine tumor of the pancreas seven years later make this a very particular case. Therapeutic options are discussed within the multidisciplinary team specialized in endocrine diseases.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Adenoma/diagnóstico , Adenoma/patologia , Adulto , Humanos , Hiperparatireoidismo Primário/diagnóstico , Masculino , Neoplasia Endócrina Múltipla Tipo 1/patologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Neoplasias Hipofisárias/patologia , Prolactina/metabolismo
14.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(9): 1083-1088, 2019 Sep 28.
Artigo em Chinês | MEDLINE | ID: mdl-31645501

RESUMO

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder. A 44-year-old man visited second Xiangya Hospital, Central South University due to hypoglycemia. He was eventually diagnosed as MEN1. A novel homozygous frameshift for c.640-643delCAGA (p.V215Mfs*13) of MEN1 gene was identified in the patient. After MDT (Multiple Disciplinary Team), open bilateral exploration with total parathyroidectomy and autotransplantation as well as partial pancreatectomy excision of all the macroscopic pancreatic tumors were performed at the same time. The patient recovered well. Individualized diagnosis and treatment are important for MEN1 patients.


Assuntos
Insulinoma , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias das Paratireoides , Adulto , Humanos , Masculino , Neoplasias Pancreáticas , Paratireoidectomia
15.
Ann Endocrinol (Paris) ; 80 Suppl 1: S19-S28, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-31606058

RESUMO

Multiple Endocrine Neoplasia Type 1 (NEM1) is related to mutations of the menin gene. It is an autosomal dominant disease. Its prevalence is about 1/30 000 with a hugh penetrance. There is no genotype-phenotype correlation. This hereditary syndrome is characterized by the presence of tumors of the endocrine system (parathyroid, endocrine pancreas, pituitary and adrenal gland). Other disorders have also been described (bronchial and thymic carcinoid tumor, breast cancer, skin lesions). Management must take into account the specificities of these pathologies in NEM1 compared to sporadic forms (young age at diagnosis, multiple lesions within the same gland, multi-focal disease). © 2019 Published by Elsevier Masson SAS. All rights reserved. Cet article fait partie du numéro supplément Les Must de l'Endocrinologie 2019 réalisé avec le soutien institutionnel de Ipsen-Pharma.


Assuntos
Congressos como Assunto , Endocrinologia/tendências , Neoplasia Endócrina Múltipla Tipo 1 , Tumor Carcinoide/diagnóstico , Tumor Carcinoide/epidemiologia , Tumor Carcinoide/genética , Tumor Carcinoide/terapia , Congressos como Assunto/organização & administração , Congressos como Assunto/tendências , Endocrinologia/métodos , Endocrinologia/organização & administração , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/epidemiologia , Neoplasias Gastrointestinais/genética , Neoplasias Gastrointestinais/terapia , Humanos , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/epidemiologia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/terapia , Mutação , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/epidemiologia , Tumores Neuroendócrinos/genética , Tumores Neuroendócrinos/terapia , Penetrância , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/terapia , Proteínas Proto-Oncogênicas/genética , Sociedades Médicas/organização & administração , Sociedades Médicas/normas , Sociedades Médicas/tendências
16.
Exp Suppl ; 111: 105-127, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31588530

RESUMO

In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary hyperparathyroidism, and neuroendocrine tumors. McCune-Albright syndrome that only exists in non-hereditary, sporadic forms is also discussed in detail, as tumors of several endocrine organs can develop in the same individual.


Assuntos
Neoplasias das Glândulas Endócrinas/genética , Neoplasia Endócrina Múltipla/genética , Humanos , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética
17.
Best Pract Res Clin Endocrinol Metab ; 33(5): 101318, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31521501

RESUMO

About 30% of patients with MEN1 develop a Zollinger-Ellison syndrome. Meanwhile it is well established that the causative gastrinomas are almost exclusively localized in the duodenum and not in the pancreas, MEN1 gastrinomas occur multicentric and are associated with hyperplastic gastrin cell lesions and tiny gastrin-producing micro tumors in contrast to sporadic duodenal gastrinomas. Regardless of the high prevalence of early lymphatic metastases, the survival is generally good with an aggressive course of disease in only about 20% of patients. Symptoms can be controlled medically. The indication, timing, type, and extent of surgery are highly controversial and are discussed in detail in this article by a thorough and critical review of literature. More radical procedures, like partial pancreaticoduodenectomy, are weighed against less aggressive local excision of gastrinomas and the pros and cons of both approaches are discussed in terms of long-term morbidity, biochemical cure, and survival.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/métodos , Neoplasias Duodenais/cirurgia , Gastrinoma/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Síndrome de Zollinger-Ellison/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Procedimentos Cirúrgicos do Sistema Digestório/normas , Neoplasias Duodenais/complicações , Feminino , Gastrinoma/complicações , Humanos , Neoplasia Endócrina Múltipla Tipo 1/complicações , Complicações Pós-Operatórias/prevenção & controle , Síndrome de Zollinger-Ellison/etiologia
18.
Arch Endocrinol Metab ; 63(5): 516-523, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31482957

RESUMO

OBJECTIVE: To describe the prevalence, clinical characteristics and outcome of adrenal lesions in long-term follow-up of Multiple endocrine neoplasia type 1 (MEN1) patients. SUBJECTS AND METHODS: We retrospectively studied sixteen patients from six families of individuals with MEN1. Adrenal involvement was evaluated using clinical, biochemical and imaging data. RESULTS: Adrenal lesions were identified in nine of sixteen (56.3%) patients: seven women and two men (mean age: 52.2 years). Adrenal involvement was detected at MEN1 diagnosis in more than half of the patients. Eighteen adrenal nodules were founded (median of two nodules per patient) with mean adrenal lesion diameter of 17.4 mm. Three patients had unilateral adrenal involvement. Hormonal hypersecretion (autonomous cortisol secretion) was found in two patients. None of the patients was submitted to adrenalectomy, presented an aldosterone-secreting lesion, a pheochromocytoma, an adrenal carcinoma or metastatic disease during the follow-up. A predominance of stable adrenal disease, in terms of size and hormonal secretion, was observed. Adrenal lesions were evenly distributed between the germline mutations. CONCLUSION: Adrenal tumours are a common feature of MEN1 that can affect more than half of the patients. Most of the tumours are bilateral non-functional lesions, but hormonal secretion may occur and should be promptly identified to reduce the morbidity/mortality of the syndrome. Periodic surveillance of these patients should be performed.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico por imagem , Adolescente , Neoplasias das Glândulas Suprarrenais/genética , Adulto , Idoso , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/genética , Estudos Retrospectivos , Adulto Jovem
19.
Medicina (Kaunas) ; 55(9)2019 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-31450729

RESUMO

Background and objectives: Here we report a rare case of a pancreatic polypeptide-secreting tumour (PPoma) discovered by accident during an autopsy. These PPomas occur in less than 2% of all pancreatic neoplasms and are almost exclusively silent, i.e., they are non-functional. Symptoms arising from PPoma are due to its compression of surrounding tissue. Materials and methods: The autopsy was performed on a 68-year-old male diagnosed with multiple endocrine neoplasm type 1 (MEN1) due to the patient's sudden death. Results: A solitary, densely fibrotic, pink-brown tumour, 18 mm in size tumorous mass, was localised in the head of the pancreas. Microscopically, the tumour had a glandular structure with a tubuloacinar arrangement of the cells. Immunohistochemically, we detected strong PP (pancreatic polypeptide) intracytoplasmic activity and negative glucagon activity. The PPoma was located in the head of the pancreas, likely resulting in the obstruction of the main pancreatic and common bile duct. Conclusions: To the best of our knowledge, this is the first report suggesting the association of PPomas with MEN1. Also, the PPoma could be the cause of acute hemorrhagic pancreatitis due to its location.


Assuntos
Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patologia , Polipeptídeo Pancreático/análise , Idoso , Humanos , Masculino , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas/genética
20.
Surg Clin North Am ; 99(4): 693-709, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31255200

RESUMO

This article summarizes the surgical management of tumors associated with multiple endocrine neoplasia 1 (MEN1) and multiple endocrine neoplasia 2 (MEN2) and includes discussion of the preoperative planning, the goals, and extent of surgery, as well as the intraoperative considerations and the management of recurrent disease.


Assuntos
Gerenciamento Clínico , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Humanos , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico
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