Collision of extensive exocrine and neuroendocrine neoplasms in multiple endocrine neoplasia type 1 revealed by cytogenetic analysis of loss of heterozygosity: A case report

2013 ◽  
pp. n/a-n/a
Author(s):  
Koki Moriyoshi ◽  
Sachiko Minamiguchi ◽  
Aya Miyagawa-Hayashino ◽  
Masakazu Fujimoto ◽  
Michiya Kawaguchi ◽  
...  
Keyword(s):  
Case Report ◽  
Loss Of Heterozygosity ◽  
Cytogenetic Analysis ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Neuroendocrine Neoplasms ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant

2020 ◽  
Vol 4 (11) ◽  
Author(s):  
Kate E Lines ◽  
Lisa B Nachtigall ◽  
Laura E Dichtel ◽  
Treena Cranston ◽  
Hannah Boon ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Multiple Endocrine Neoplasia ◽  
Kinase Inhibitor ◽  
Multiple Endocrine Neoplasia Type ◽  
Neuroendocrine Neoplasm ◽  
Neuroendocrine Neoplasms ◽  
Autosomal Dominant Disorder ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid tumors, pituitary adenomas, and pancreatic neuroendocrine neoplasms (PNENs). MEN1 is caused by germline MEN1 mutations in > 75% of patients, and the remaining 25% of patients may have mutations in unidentified genes or represent phenocopies with mutations in genes such as cell cycle division 73 (CDC73), the calcium sensing receptor (CASR), and cyclin-dependent kinase inhibitor 1B (CDKN1B), which are associated with the hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia type 1, and MEN4, respectively. Here, we report a heterozygous c.1138C>T (p.Leu380Phe) CDC73 germline variant in a clinically diagnosed MEN1 patient, based on combined occurrence of primary hyperparathyroidism, acromegaly, and a PNEN. Characterization of the PNEN confirmed it was a neuroendocrine neoplasm as it immuno-stained positively for chromogranin and glucagon. The rare variant p.Leu380Phe occurred in a highly conserved residue, and further analysis using RNA-Scope indicated that it was associated with a significant reduction in CDC73 expression in the PNEN. Previously, CDC73 mutations have been reported to be associated with tumors of the parathyroids, kidneys, uterus, and exocrine pancreas. Thus, our report of a patient with PNEN and somatotrophinoma who had a CDC73 variant, provides further evidence that CDC73 variants may result in a MEN1 phenocopy.

scholarly journals SUN-116 The Role of 68Gallium DOTATATE PET/CT Versus 18F-FDOPA PET/CT in the Imaging of Neuroendocrine Neoplasms in Patients with Multiple Endocrine Neoplasia Type 1 (MEN1)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Aisha Tepede ◽  
Maya Lee ◽  
James Welch ◽  
Adel Mandl ◽  
Rashika Bansal ◽  
...  
Keyword(s):  
Nuclear Medicine ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Neuroendocrine Neoplasms ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Pet Ct ◽  
Significant Difference ◽  
Ct And Mri

Abstract Background: Neuroendocrine neoplasms (NEN) are a heterogenous group of tumors. Patients with the multiple endocrine neoplasia type 1 (MEN1) syndrome often manifest with simultaneous functional and non-functional NEN in various endocrine glands. In MEN1, nuclear medicine plays an important role in the diagnostic work-up and localization of NEN. Little is known about the comparative efficacy of 68Ga-Dotatate PET/CT (DOTA) versus 18F-FDOPA PET/CT (FDOPA) and both versus non-nuclear medicine imaging (CT and MRI) in the identification of primary and metastatic NEN. Methods: This prospective MEN1 cohort study evaluated 15 germline MEN1 mutation-positive patients. Subjects were imaged using CT, MRI, DOTA and 18F-FDOPA. Radiological review with a multidisciplinary team was performed for each patient. Results: One-hundred twenty-nine total lesions were identified using any of the four scans. DOTA sensitivity was 69% (89/129; 95% CI 61% to 76%) with a mean standardized uptake value (SUV) of 33.9 ± 30.1, FDOPA sensitivity was 18% (23/129; 95% CI 12% to 25%) with mean SUV of 12.1 ± 15.16. DOTA identified an additional 50 lesions not seen on CT (of which MRI detected 8 lesions with an average size 0.95 cm ± 0.48; 3 pancreatic, 2 duodenal, 2 liver, and 1 lymph node) and identified 55 lesions not seen on MRI (of which CT identified 13 with a mean size of 1.1 cm ± 0.45; 1 lung, 4 pancreatic, 2 duodenal, 1 liver, and 5 lymph nodes). Overall, CT detected 51.2% (66/129) of lesions (mean 0.61 cm ± 0.73; 95% CI 43% to 60%) and MRI detected 39.5% (51/129; 0.47 cm ± 0.71; 95% CI 32% to 48%), and there was no significant difference in the size of lesions detected (p=0.18). Analysis by organ NEN revealed equal sensitivity between FDOPA and DOTA for lung carcinoid, detecting 33% (4/12) of lesions, while CT detected 92% (11/12) of lesions. In the duodenum, DOTA identified 100% (11 /11) of lesions, while FDOPA had poor sensitivity (9%) in this location. Within the pancreas, DOTA has a sensitivity of 81% (31/38), while FDOPA had a sensitivity of 21% (8/38). CT localized 42% (16/38) of pancreatic lesions, of which MRI missed 6. Interestingly, DOTA missed 7 pancreatic lesions all approximately 1cm or larger, which is previously unrecognized (range 0.9 - 1.8cm). Twenty-three liver metastases were detected on anatomic imaging (CT identified 14, while MRI detected 15, with only 9 overlapping lesions). DOTA identified 60% (14/23) of lesions, of which 3 lesions were missed by CT and MRI. However, DOTA was more sensitive in the liver than FDOPA which only detected 2 lesions. FDOPA detected one lesion in the adrenal (0.9cm) that was not seen on DOTA. Conclusion: DOTA imaging proved to be superior to FDOPA, CT and MRI overall in detecting NENs in MEN1, specifically in the duodenum. Pancreatic NEN missed by DOTA may represent higher grade tumors and may benefit from 18FDG PET/CT imaging.

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 Cerebral Aneurysm Associated with Multiple Endocrine Neoplasia, Type 1 —Case Report—

1993 ◽  
Vol 33 (5) ◽  
pp. 309-311 ◽  
Author(s):  
Koji ADACHI ◽  
Motoshige KUDO ◽  
Mau Nan CHEN ◽  
Shozo NAKAZAWA ◽  
Ichiji WAKABAYASHI
Keyword(s):  
Case Report ◽  
Cerebral Aneurysm ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals A case report of multiple endocrine neoplasia type 1 and autoimmune disease

Medicine ◽  
2021 ◽  
Vol 100 (49) ◽  
pp. e28145
Author(s):  
Carolina Chaves ◽  
Tiago Nunes da Silva ◽  
Bernardo Dias Pereira ◽  
João Anselmo ◽  
Isabel Claro ◽  
...  
Keyword(s):  
Case Report ◽  
Autoimmune Disease ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type
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