Lack of allelic loss at the multiple endocrine neoplasia type 1(MEN-1) gene locus in a pancreatic ductal (non-endocrine) adenocarcinoma of a patient with the MEN-1 syndrome

1995 ◽  
Vol 426 (2) ◽  
Author(s):  
Cesare Bordi ◽  
Cinzia Azzoni ◽  
Tiziana D'Adda ◽  
Anacleto Peracchia ◽  
Alberto Falchetti ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Gene Locus ◽  
Multiple Endocrine Neoplasia Type ◽  
Allelic Loss ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

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

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.

scholarly journals Exclusion of the Nuclear Factor-κB3 (REL A) Gene as Candidate for the Multiple Endocrine Neoplasia Type 1 (MEN 1) Gene

1997 ◽  
Vol 60 (1) ◽  
pp. 76-79 ◽  
Author(s):  
Rudy M. Landsvater ◽  
Mireille J. de Wit ◽  
Luke F. Peterson ◽  
Richard J. Sinke ◽  
Ad Geurts van Kessel ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Nuclear Factor ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Papillary Thyroid Carcinoma and Cushing’s Disease: A Rare Association With Multiple Endocrine Neoplasia Type 1

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1003-A1003
Author(s):  
Léo Nunes Benevides ◽  
Pedro Gomes Pinto Holanda ◽  
Aline Teixeira de Melo ◽  
Juliana Tomaz Pinheiro ◽  
Carlos Eduardo Lopes Soares ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Papillary Thyroid ◽  
Rare Association ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is characterized by tumours of the parathyroid glands, neuroendocrine pancreatic tumour (PNET), and anterior pituitary. Studies suggest that MEN1 gen is not etiologically related to the oncogenesis of the papillary thyroid carcinoma (PTC). Expression of menin is preserved in human normal thyroid tissue and THc. Papillary thyroid carcinoma (PTC) combined with multiple endocrine neoplasia type 1 is a rare association. Cushing Syndrome (CS) is another rare associated condition with MEN-1. In patients with MEN1, CS can result from pituitary, adrenal, or other endocrine tumours. In large series of MEN-1 CS has low frequency (0.5%) or not described. Clinical Case: A.M.F.A, 49 years, female. In 2007, cytological study of thyroid nodules resulted in PTC, underwent total thyroidectomy. Anatomopathological (AP) confirmed PTC. She was followed with an excellent response to therapy. In 2018, abdominal ultrasound due to epigastric pain showed pancreatic lesion. MRI confirmed lesion in the head and body of the pancreas of 8.2cm. She underwent total gastroduodenopacreatectomy (TGDP), AP showed a well-differentiated PNET (KI67: 2%). Before TGDP, tests for MEN-1 were collected: IGF-1 of 450 ng/ml (RV for age: 90-249 ng/ml); calcium: 1,46 nmol/l (RV: 1,12-1,40), PTH: 91,7 pg/ml (RV: 15-65), prolactin 13,3 ng/ml (RV: 5-23), gastrin 22pg/ml (RV 13-115), and late night salivary cortisol (LNSC): 8,3 nmol/l (RV <7,6). Pituitary MRI showed a 0.5cm intrasellar nodule. Genetic study revealed c654 + 1G>T mutation in heterozygosity. O3 family members had the same mutation. To investigate hypercortisolism, it was made basal ACTH (56,1 pg/ml (VR 46 pg/ml), urine free cortisol (UFC) of 261,0 mcg/24h, 1mg DST of 15,2 mcg/dl (RV <1,8), basal cortisol of 16,5 mcg/dl and 8mg DST of 13,7 mcg/dl (not 50% suppressing of basal value). Another measurement of IGF-1 (after the PNET surgery) was normal. A petrosal venous sinus catheterization (PVSC) was made, which was compatible with Cushing’s disease (CD). She had brittle hair, facial plethora, proximal muscle weakness and easily bruising, without other clinical CS aspects. Treatment with ketoconazole was initiated and she was referred to transesphenoidal surgery. Conclusion: Patient had two rare presentation of MEN1, first manifestation was PTC. PNET and CD was diagnosed 11 years late during clinical follow up. In this patient, MEN1 syndrome may have predisposed the patient to developing PTC. Currently, little is known about the prevalence of THc in MEN1 and it is unclear whether tumorigenesis is related. Further studies and additional case reports are required to clarify this connection. Also, we observed IGF-1 value normalized after TGDP, so it could be caused by a functional PNET. Rare causes of acromegaly are excess secretion of GH-releasing hormone (GHRH) by hypothalamic tumours, and ectopic GHRH or GH secretion by NET.

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