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.

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Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how

F1000 Medicine Reports ◽

10.3410/m2-14 ◽

2010 ◽

Vol 2 ◽

Cited By ~ 10

Author(s):

Alberto Falchetti

Keyword(s):

Genetic Screening ◽

Multiple Endocrine Neoplasia ◽

Syndrome Type ◽

Men 1 ◽

Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Syndrome

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

Problems of Endocrinology ◽

10.14341/probl12413 ◽

2020 ◽

Vol 66 (2) ◽

pp. 4-12

Author(s):

Elizaveta O. Mamedova ◽

Diana A. Dimitrova ◽

Zhanna E. Belaya ◽

Galina A. Melnichenko

Keyword(s):

Multiple Endocrine Neoplasia ◽

Endocrine Tumors ◽

Syndrome Type ◽

Gene Encoding ◽

Gastroenteropancreatic Neuroendocrine Tumors ◽

Men1 Gene ◽

Men 1 ◽

Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Syndrome

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.

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Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism

Clinical Medicine (Russian Journal) ◽

10.30629/0023-2149-2020-98-3-218-225 ◽

2020 ◽

Vol 98 (3) ◽

pp. 218-225

Author(s):

J. A. Krupinova ◽

N. G. Mokrysheva ◽

N. Y. Kalinchenko ◽

A. K. Eremkina ◽

A. N. Polyakov ◽

...

Keyword(s):

Multiple Endocrine Neoplasia ◽

Molecular Genetic ◽

Pancreatic Neuroendocrine Tumor ◽

Family Type ◽

Dynamic Monitoring ◽

Heterozygous Mutation ◽

Molecular Genetic Study ◽

Men 1 ◽

Endocrine Neoplasia

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

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