A 32-year-old lady presented to us at 6 months of gestation with acute pancreatitis due to parathyroid hormone-dependent hypercalcemia and with insulin-dependent hypoglycemia,owing to parathyroid adenoma and possibly ...A 32-year-old lady presented to us at 6 months of gestation with acute pancreatitis due to parathyroid hormone-dependent hypercalcemia and with insulin-dependent hypoglycemia,owing to parathyroid adenoma and possibly insulinoma,respectively.The parathyroid adenoma was localized on the magnetic resonance imaging of the neck;however,imaging for the insulinoma could not be done due to the gravid state.Due to the simultaneous occurrence of tumours in two endocrine glands,namely,parathyroid gland and pancreatic islet cells,a diagnosis of MEN-1(multiple endocrine neoplasia)was considered,which is very rarely seen in pregnancy.Her hypercalcemia was effectively managed with cinacalcet and alcohol ablation of the parathyroid adenoma while her hypoglycemic episodes were managed with short and long-acting octreotide injections during the antenatal period.She had a full-term cesarean delivery,with no maternal or neonatal complications,except for transient neonatal hypoglycemia.The patient was followed up for 1 year after her delivery with no further episodes of hypercalcemia and hypoglycemia,on medical management.Tc99m sestamibi scan was done after delivery which confirmed the presence of a left inferior parathyroid adenoma.MEN-1 with pregnancy thus poses a diagnostic and therapeutic challenge and our case highlights the role of multimodal medical therapy for successful management.展开更多
Pancreatic neuroendocrine tumors(pNETs)might present as part of a complex of hereditary(familial)syndromes caused by germline mutations such as multiple endocrine neoplasia type 1(MEN1),von Hippel-Lindau syndrome(VHL)...Pancreatic neuroendocrine tumors(pNETs)might present as part of a complex of hereditary(familial)syndromes caused by germline mutations such as multiple endocrine neoplasia type 1(MEN1),von Hippel-Lindau syndrome(VHL),tuberous sclerosis,and neurofibromatosis syndromes.Hereditary pNETs are frequently misdiagnosed because their presentation may mimic other more common diseases,resulting in diagnostic delays.Although non-operative(conservative)management could be advocated in select cases in most patients,hereby avoiding surgery without loss of oncological safety,some cases still need operative intervention before malignancy develops.The objective of this review is to address the most recent literature and the evidence it provides for the indications,timing and options of operative treatment for concomitant pNETs in hereditary tumor syndromes.Complete sequencing of the whole gene is recommended for suspected hereditary pNETs.Proven functional pNETs with hereditary tumor syndromes is a good indication for surgical treatment.Conservative management for MEN1 patients with a non-functional pNET of 2cm or smaller is associated with a low risk of malignant transformation and metastasis development.VHL-related pNETs patients with tumor size>1.5cm or a missense mutation or any mutation type in exon 3 may benefit from surgical intervention.The parenchyma-sparing surgical strategy should be preferentially performed whenever possible in all hereditary syndromes.The decision to recommend surgery to prevent malignant transformation and tumor spread,which is based on multidisciplinary expertise and the patient’s preference,should be balanced with operative mortality and morbidity.展开更多
Pancreatic neuroendocrine tumors(p NETs) are particularly rare. The various forms of PNETs, such as cystic degeneration, make differentiation from other similar pancreatic lesions difficult. We can detect small lesion...Pancreatic neuroendocrine tumors(p NETs) are particularly rare. The various forms of PNETs, such as cystic degeneration, make differentiation from other similar pancreatic lesions difficult. We can detect small lesions by endoscopic ultrasound(EUS) and obtain preoperative pathological diagnosis by EUS-guided fine needle aspiration(FNA). We describe, here, an interesting case of p NET in a 42-year-old woman with no family history. Computed tomography and magnetic resonance imaging revealed an 18 mm × 17 mm cystic lesion with a nodule in the pancreatic tail. Two microtumors about 7 mm in diameter in the pancreatic body detected only by EUS, cystic rim and nodules all showed similar enhancement on contrast-harmonic EUS. Preoperative EUS-FNA of the microtumor was performed, diagnosing multiple p NETs. Macroscopic examination of the resected pancreatic body and tail showed that the cystic lesion had morphologically changed to a 13-mm main nodule, and 11 new microtumors(diameter 1-3 mm). Microscopically, all microtumors represented p NETs. From the findings of a broken peripheral rim on the main lesion with fibrosis, rupture of the cystic p NET was suspected. Postoperatively, pituitary adenoma and parathyroid adenoma were detected. The final diagnosis was multiple grade 1 p NETs with multiple endocrine neoplasia type 1. To the best of our knowledge, no case of spontaneous rupture of a cystic p NET has previously been reported in the English literature. Therefore, this case of very rare p NET with various morphological changes is reported.展开更多
Patients with multiple endocrine neoplasia type 1(MEN1)mutations are predisposed to MEN1 syndrome affecting various endocrine cell lineages.Following its identification in the late 1990s,laboratories around the world,...Patients with multiple endocrine neoplasia type 1(MEN1)mutations are predisposed to MEN1 syndrome affecting various endocrine cell lineages.Following its identification in the late 1990s,laboratories around the world,including our own,used gene-targeting approaches in murine models to study the MEN1 gene and its related diseases.Subsequently,this field of research witnessed an upsurge in the use of Men1 mutant mouse models to dissect MEN1 functions.These studies led to unraveling the natural history of MEN disease,and highlighted cellular and molecular mechanisms underlying the development of the disease.In this review,we present the currently available data concerning the generation and characterization of Men1 mutant mouse models in connection with MEN1 syndrome.展开更多
文摘A 32-year-old lady presented to us at 6 months of gestation with acute pancreatitis due to parathyroid hormone-dependent hypercalcemia and with insulin-dependent hypoglycemia,owing to parathyroid adenoma and possibly insulinoma,respectively.The parathyroid adenoma was localized on the magnetic resonance imaging of the neck;however,imaging for the insulinoma could not be done due to the gravid state.Due to the simultaneous occurrence of tumours in two endocrine glands,namely,parathyroid gland and pancreatic islet cells,a diagnosis of MEN-1(multiple endocrine neoplasia)was considered,which is very rarely seen in pregnancy.Her hypercalcemia was effectively managed with cinacalcet and alcohol ablation of the parathyroid adenoma while her hypoglycemic episodes were managed with short and long-acting octreotide injections during the antenatal period.She had a full-term cesarean delivery,with no maternal or neonatal complications,except for transient neonatal hypoglycemia.The patient was followed up for 1 year after her delivery with no further episodes of hypercalcemia and hypoglycemia,on medical management.Tc99m sestamibi scan was done after delivery which confirmed the presence of a left inferior parathyroid adenoma.MEN-1 with pregnancy thus poses a diagnostic and therapeutic challenge and our case highlights the role of multimodal medical therapy for successful management.
基金National Natural Science Foundation of China(81702304,81773068).
文摘Pancreatic neuroendocrine tumors(pNETs)might present as part of a complex of hereditary(familial)syndromes caused by germline mutations such as multiple endocrine neoplasia type 1(MEN1),von Hippel-Lindau syndrome(VHL),tuberous sclerosis,and neurofibromatosis syndromes.Hereditary pNETs are frequently misdiagnosed because their presentation may mimic other more common diseases,resulting in diagnostic delays.Although non-operative(conservative)management could be advocated in select cases in most patients,hereby avoiding surgery without loss of oncological safety,some cases still need operative intervention before malignancy develops.The objective of this review is to address the most recent literature and the evidence it provides for the indications,timing and options of operative treatment for concomitant pNETs in hereditary tumor syndromes.Complete sequencing of the whole gene is recommended for suspected hereditary pNETs.Proven functional pNETs with hereditary tumor syndromes is a good indication for surgical treatment.Conservative management for MEN1 patients with a non-functional pNET of 2cm or smaller is associated with a low risk of malignant transformation and metastasis development.VHL-related pNETs patients with tumor size>1.5cm or a missense mutation or any mutation type in exon 3 may benefit from surgical intervention.The parenchyma-sparing surgical strategy should be preferentially performed whenever possible in all hereditary syndromes.The decision to recommend surgery to prevent malignant transformation and tumor spread,which is based on multidisciplinary expertise and the patient’s preference,should be balanced with operative mortality and morbidity.
文摘Pancreatic neuroendocrine tumors(p NETs) are particularly rare. The various forms of PNETs, such as cystic degeneration, make differentiation from other similar pancreatic lesions difficult. We can detect small lesions by endoscopic ultrasound(EUS) and obtain preoperative pathological diagnosis by EUS-guided fine needle aspiration(FNA). We describe, here, an interesting case of p NET in a 42-year-old woman with no family history. Computed tomography and magnetic resonance imaging revealed an 18 mm × 17 mm cystic lesion with a nodule in the pancreatic tail. Two microtumors about 7 mm in diameter in the pancreatic body detected only by EUS, cystic rim and nodules all showed similar enhancement on contrast-harmonic EUS. Preoperative EUS-FNA of the microtumor was performed, diagnosing multiple p NETs. Macroscopic examination of the resected pancreatic body and tail showed that the cystic lesion had morphologically changed to a 13-mm main nodule, and 11 new microtumors(diameter 1-3 mm). Microscopically, all microtumors represented p NETs. From the findings of a broken peripheral rim on the main lesion with fibrosis, rupture of the cystic p NET was suspected. Postoperatively, pituitary adenoma and parathyroid adenoma were detected. The final diagnosis was multiple grade 1 p NETs with multiple endocrine neoplasia type 1. To the best of our knowledge, no case of spontaneous rupture of a cystic p NET has previously been reported in the English literature. Therefore, this case of very rare p NET with various morphological changes is reported.
基金the Fondation de l’Association pour la Recherche contre le Cancer(PJA 20151203335)SCUSI 2017 program from la Région Auvergne Rhône-Alpes and the grant from Ligue contre le Cancer inter-régionale 2018.
文摘Patients with multiple endocrine neoplasia type 1(MEN1)mutations are predisposed to MEN1 syndrome affecting various endocrine cell lineages.Following its identification in the late 1990s,laboratories around the world,including our own,used gene-targeting approaches in murine models to study the MEN1 gene and its related diseases.Subsequently,this field of research witnessed an upsurge in the use of Men1 mutant mouse models to dissect MEN1 functions.These studies led to unraveling the natural history of MEN disease,and highlighted cellular and molecular mechanisms underlying the development of the disease.In this review,we present the currently available data concerning the generation and characterization of Men1 mutant mouse models in connection with MEN1 syndrome.
