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

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.

scholarly journals A Germline Mutation, 1001delC, of the Multiple Endocrine Neoplasia Type 1 (MEN 1) Gene in a Japanese Family.

2001 ◽  
Vol 40 (6) ◽  
pp. 499-505 ◽  
Author(s):  
Seiki WADA ◽  
Masaki WATANABE ◽  
Toshihiko TSUKADA ◽  
Shigemitsu YASUDA ◽  
Ken YAMAGUCHI ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Japanese Family ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Loss of Heterozygosity at 11q13: Analysis of Pituitary Tumors, Lung Carcinoids, Lipomas, and Other Uncommon Tumors in Subjects with Familial Multiple Endocrine Neoplasia Type 1

1997 ◽  
Vol 82 (5) ◽  
pp. 1416-1420 ◽  
Author(s):  
Qihan Dong ◽  
Larisa V. Debelenko ◽  
Settara C. Chandrasekharappa ◽  
Michael R. Emmert-Buck ◽  
Zhengping Zhuang ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Loss Of Heterozygosity ◽  
Pancreatic Islet ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Pituitary Tumors ◽  
Polymorphic Markers ◽  
Men 1 ◽  
Endocrine Neoplasia

Abstract Loss of heterozygosity (LOH) for polymorphic markers flanking the multiple endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumors from subjects with familial MEN-1 (FMEN-1) has been well documented and has led to the hypothesis that the MEN-1 gene functions as a tumor suppressor. To assess the role of the MEN-1 gene in the pathogenesis of tumors less commonly associated with MEN-1, we employed a large number of highly informative polymorphic markers closely linked to the MEN-1 gene to study a series of 13 such tumors from subjects with FMEN-1 for LOH at 11q13. We were able to identify LOH for 1 or more 11q13 markers in 2 of 3 pituitary tumors, 3 lung carcinoids, and 1 of 2 lipomas. In every case studied, the allele lost represented the normal allele inherited from the unaffected parent. No LOH was detected in 3 skin angiofibromas, an esophageal leiomyoma, or a renal angiomyolipoma despite the presence of at least 2 informative markers for each tumor. Our results suggest that, like that for parathyroid and pancreatic islet tumors, the pathogenesis of pituitary tumors, lung carcinoids, and lipomas occurring in subjects with FMEN-1 probably involves loss of the normal tumor suppressor function of the MEN-1 gene. Our inability to detect 11q13 LOH in skin angiofibromas, leiomyoma, and angiomyolipoma from subjects with FMEN-1 is consistent with the possibility that these neoplasms arose independently by a mechanism unrelated to the MEN-1 gene, but a role for the MEN-1 gene in the pathogenesis of these tumors cannot be definitively excluded until the gene itself is identified and evaluated for small intragenic deletions or point mutations in such tumors.

Breast cancer in a patient with multiple endocrine neoplasia type 1 (MEN 1): A case report and review of the literature.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e21136-e21136
Author(s):  
Zorka Momcilo Inic ◽  
Momcilo Inic ◽  
Radan Dzodic ◽  
Gordana Pupic ◽  
Svetozar Damjanovic
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Serum Concentration ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
The Body ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

e21136 Background: We treated a patient with breast cancer associated with multiple endocrine neoplasia type 1 (MEN 1). There are only few studies of the development of breast cancer in patients diagnosed with MEN1 syndrome. Methods: We found that patient had a pituitary macroadenoma that secretes prolactin (prolactinomas), increased serum concentration of calcium, 4.09 mmol/l and increased serum concentration of PTH, 212 pg/ml. Neck ultrasound and scintigrafy showed suspicious adenoma in lower left parathyroid gland. A computed tomography scan of the abdomen revealed a tumor mass in the body of the pancreas and adenoma in the left suprarenal gland. We diagnosed multiple endocrine neoplasia type 1 (MEN 1). Results: MEN1 occurs as a result of inactivating mutations of the MEN1 gene (MEN1), located on chromosome11q13. Results indicate that menin is a direct activator of ERalpha function. In a clinical study, in Kagawa, with 65 ER-positive breast cancer samples-all of which had been treated with tamoxifen for 2-5 years as adjuvant therapies-menin-positive tumors had a worse outcome than menin-negative ones. This indicated that menin can function as a transcriptional regulator of ERalpha and is a possible predictive factor for tamoxifen resistance.These results demonstrate that allelic deletions of the 13q12-14 region occur in some pituitary adenomas and 16% of parathyroid adenomas. Conclusions: As recent molecular studies have suggested genetic mutations in multiple endocrine neoplasia type 1, this syndrome may possibly predispose patients to breast cancer.This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

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