Simultaneous transoral parathyroidectomy and laparoscopic pancreatic resection in type 1 Multiple Endocrine Neoplasia syndrome

The article presents a clinical observation of a patient with type 1 Multiple Endocrine Neoplasia syndrome (MEN 1). During the diagnostic search, a combination of primary hyperparathyroidism, parathyroid adenoma and hormonally inactive pancreatic head tumor was found. Simultaneous transoral parathyroidectomy and laparoscopic resection of the pancreatic head was performed. We haven`t found the literature data describing such kind of operations for MEN 1 syndrome. An original solution was applied to perform intraoperative ultrasonography monitoring. The results of 1-year postoperative follow-up are presented. This observation demonstrates the possibilities of endoscopic technologies in the treatment of MEN 1 syndrome.

Overview of the Updated Evidence of Multiple Endocrinal Neoplasia (MEN) in Children and Adolescents

MEN syndromes are a collection of autosomal dominant disease including MEN 1 and MEN 2. Multiple endocrine neoplasia (MEN) syndromes are infrequent inherited disorders in which more than one endocrine glands develop noncancerous (benign) or cancerous (malignant) tumors or grow excessively without forming tumors. There are 3 famous and well-known forms of MEN syndromes (MEN 1, MEN 2A, and MEN 2B) and a newly documented one (MEN4). These syndromes are infrequent and occurred in all ages and both men and women. MEN1 is the most often happening form of MENs. The information of MEN’s genetic alterations and the connection among genotype and phenotype could be beneficial for MEN disease management. (MEN1) implicated IN primarily by tumors of the parathyroid glands, endocrine gastroenteropancreatic (GEP) tract and anterior pituitary. Before MEN-1 can be diagnosed it must be suspected, genetic screening for MEN-1 is recommended when an individual has 2 or more MEN-1 related tumors, MEN2 associates with medullary thyroid carcinoma, pheochromocytoma, and primaryhype- rparathyroidism. MEN2A and MEN2B should be suspected in any patient diagnosed with MTC or pheochromocytoma, particularly when the age of presentation is very young (younger than 35), the genetic testing for RET proto-oncogene is employed to diagnose and identify a specific type of mutation present. Treatment is mainly surgical in most cases of multiple endocrine neoplasia syndrome.

Multiple endocrine neoplasia syndrome

Background. Multiple endocrine neoplasia type 1 is a rare inherited disease that combines heterogeneous autosomal inherited disorders, the pathogenesis of which is based on hyperplasia or tumor transformation of several neuro- endocrine glands. In this pathology, treatment protocols are insufficient. Surgical treatment, suppressive or replacement therapy, radiation and chemotherapy are mainly used. We presented a successful experience of combined radiotherapy of multiple pancreatic insulinoma as the main clinical manifestation of the syndrome of multiple endocrine neoplasia. The combination of intra-tissue brachytherapy and megavolt remote therapy in TFD, isoeffective 50 Gy, allowed to achieve reliable control of hypoglycemic attacks within 2 years of follow-up. Purpose – to acquaint the medical community with successful experience of combined radiation treatment of multiple pancreatic insulinoma as a main clinical manifestation of the multiple endocrine neoplasia syndrome. Materials and Methods. Clinical case of patient L., 30 years old, who received combined radiation therapy for clinically significant manifestations of hormonally active multiple insulinoma of the pancreas in the Department of Radiological Oncology of State Organization «Grigoriev Institute for Medical Radiology and Oncology of the National Academy of Medical Sciences of Ukraine». Results. In May 2019, palliative contact brachytherapy was performed on the MULTISOURCE device. Total focal dose (TFD) for cells in the pancreas GENUS 3 Gy 5 times a week, TFD 18 Gy. At the end of brachytherapy, attacks of hypoclycemia were stopped. In March 2020, remote radiation therapy was performed on a linear accelerator CLINAC-600C (6MeV) in the mode of classical fractionation (single focal dose (SFD) 1.8 Gy 5 times a week), TFD for the entire volume of the pancreas 30.6 Gy. In May 2021, CT scan showed that the process in the pancreas was stabilized, but in connection with the resumption of hypoglycemia and the emergence of dyshormonal osteopathy, a course of remote radiation therapy for the entire pancreas, SFD 1.8 Gy, TFD 20 Gy simultaneously with the introduction of bisphosphonates. Conclusions. Our patient demonstrates type I syndrome of multiple neo- plasms, neuroendocrine tumor of pancreas G1 T3N0M0 IIB stage. Due to multi-stage combined radiation therapy for 2 years it is possible to achieve stabilization of the process and reliable control of hypoglycemic attacks, which indicates the effectiveness of this method as an alternative to surgery in unresectable cases.

Bone disorders in type 1 multiple endocrine neoplasia syndrome: A review of clinical data

Primary hyperparathyroidism (PHPT) is a result of the parathyroid tumors, usually manifesting by elevated serum parathyroid hormone and hypercalcemia. One of the most common complications of PHPT are bone disorders. It mainly occurs as sporadic disease, while the remaining 5–10% is the component of hereditary syndromes, more often – type 1 multiple endocrine neoplasia syndrome (MEN1). MEN1 is caused by the germinal mutation of the oncosuppressor menin gene, founded in all cells of the human body, including the osteogenic cells. Data on the bone state in MEN1 is limited and contradictory. At the same time, some studies indicate that MEN1-related PHPT differs from sporadic form in bone manifestation, which can be presumably associated with the inadequate functioning of mutant menin. The results of experimental works suggest that menin plays an important role in the metabolism and differentiation of bone cells. This article is a literature review on this problem and contains information on the current clinical data on the bone state in patients with MEN1.

THE CASE OF COMBINATION OF MULTIPLE ENDOCRINE NEOPLASIA SYNDROME (MEN SYNDROME) AND ASPERGILOMA (CLINICAL OBSERVATION)

The clinical case of staged surgical treatment of multiple endocrine neoplasia and aspergilloma syndrome in a 21-year-old patient is presented. The patient was admitted to NIFP with the diagnosis: adrenocorticotropic hormone-producing tumor of the anterior mediastinum; diabetes mellitus, insulin dependent; secondary hypothyroidism; shingles; cavitary lesion of the upper lobe of the left lung, the lesion of the upper lobe of the right lung; hirsutism, edema syndrome. At the first stage, the patient underwent a sternotomy with removal of the tumor of the anterior mediastinum with adipose tissue and mediastinal lymph dissection, removal of the tumor of S3 of the right lung. At discharge, the patient was recommended to returm to NIFP in 2 months for elective surgery for aspergilloma of the upper left lung. But one month after discharge, the patient developed hemoptysis. She underwent a video-assisted typical resection of S1-S2 of the left lung. Removal of hormone-producing tumors allowed to normalize glycemia, discontinue insulin, normalize thyroid function and lead to regression of hirsutism and osteoporosis, restored muscle strength and normalized water-electrolyte balance. Key words: multiple endocrine neoplasia syndrome, aspergilloma, surgical treatment.

The role of non-coding RNAs in the pathogenesis of multiple endocrine neoplasia syndrome type 1

Changes in the expression of non-coding ribonucleic acids (ncRNAs) takes part in the formation of various tumors. Multiple endocrine neoplasia syndrome type 1 (MEN1) is a rare autosomal dominant disease caused by mutations of the MEN1 gene encoding the Menin protein. Syndrome is characterized by the occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine tumors, pituitary adenoma, as well as other endocrine and non-endocrine tumors. The mechanisms for the formation of MEN1-related tumors due to mutations in the MEN1 gene are not . In the absence of mutations of the MEN1 gene in patients with phenotypically similar features, this condition is regarded as a phenocopy of this syndrome. The cause of the combination of several MEN-1-related tumors in these patients remains unknown. The possible cause is that changes in the expression of ncRNAs affect the regulation of signaling pathways in which Menin participates and may contribute to the development of MEN-1-related tumors. The identification of even a small number of agents interacting with Menin makes a significant contribution to the improvement of knowledge about its pathophysiological influence and ways of developing tumors within the MEN-1 syndrome and its phenocopies.

Una patología muy infrecuente: ganglioneuromatosis intestinal. Reporte de un caso

Intestinal ganglioneuromatosis is an unusual pathology, especially in adults. It is associated with multiple endocrine neoplasia type IIb and Von Recklinghausen´s neurofibromatosis. Histologically, it is characterized by hyperplasia of the intramural plexuses of the gastrointestinal tract and enteric nerve fibres. Clinical manifestations include abdominal pain, distension and changes in bowel habits. We report the case of a 38-year-old patient, with a multiple endocrine neoplasia syndrome type IIb, presenting with repeated partial or complete intestinal obstruction that requires partial colectomy. Pathology of the resected colon revealed intestinal ganglioneuromatosis.