Endocrinology and Metabolism

Original Article

Hypothalamus and pituitary gland
Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis: Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim; Endocrinol Metab. 2024;39(6):956-964. Published online November 18, 2024; DOI: https://doi.org/10.3803/EnM.2024.2008

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Background
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

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Risk Factors for Pituitary Adenoma Development in Multiple Endocrine Neoplasia Type 1: A Nationwide Study of 240 Cases
Nuria Valdés, Ana R Romero-Lluch, Estrella Diego, María Calatayud, Cristina Lamas, Marta Araujo-Castro, Rosa Martínez, Josep Oriola, Cristina Álvarez-Escolá, Ángel Díaz Pérez, Victoria Alcázar, Julia Sastre, María Isabel del Olmo, Evangelina Boix, Almuden
The Journal of Clinical Endocrinology & Metabolism.2026; 111(3): e811. CrossRef

Review Article

Hypothalamus and pituitary gland
Pituitary Neuroendocrine Tumors in Multiple Endocrine Neoplasia: Sang Ouk Chin, Constance Chik, Toru Tateno; Endocrinol Metab. 2025;40(1):39-46. Published online August 30, 2024; DOI: https://doi.org/10.3803/EnM.2024.2074

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant disorder characterized by tumors of the pituitary, parathyroid, and endocrine-gastrointestinal tract. Pituitary neuroendocrine tumors (PitNETs) occur in about 40% of MEN1 cases, with 10% being the first manifestation. Recent studies show a slight female predominance, with microPitNETs (<1 cm) being more common than macroPitNETs (>1 cm). Functional PitNETs (FPitNETs) are more frequent than non-functional ones (36% to 48%), with prolactinomas being the most common FPitNETs. MEN1-associated PitNETs are often plurihormonal, larger, and more invasive compared to sporadic types, though patient age and FPitNET proportions are similar. MEN1 mutation-negative patients tend to have larger, symptomatic PitNETs at diagnosis. Six patients with MEN1 have been reported to have pituitary carcinomas, including a mutation- negative patient. Treatment approach between PitNETs in MEN1 and sporadic types appears to be similar. PitNETs also occur in MEN4, but their epidemiology is less understood. In patients with a MEN1-like phenotype and negative genetic testing, MEN4 should be considered.

Citations

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The evolution and application of multi-omic analysis for pituitary neuroendocrine tumors
Sangami Pugazenthi, Shree S. Pari, Ziyan Zhang, Julie Silverstein, Albert H. Kim, Bhuvic Patel
Frontiers in Medicine.2025;[Epub] CrossRef
The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study
Rosaria M. Ruggeri, Elio Benevento, Iderina Hasballa, Erika Maria Grossrubatscher, Roberta Modica, Manuela Albertelli, Bianca Golisano, Vito Guarnieri, Flavia Pugliese, Valentina Guarnotta, Simona Jaafar, Andrea Lania, Antonio Prinzi, Isabella Zanata, Mar
Journal of Endocrinological Investigation.2025; 49(3): 573. CrossRef

Original Articles

Clinical Features of Multiple Endocrine Neoplasia Type I in Koreans.: Chul Hee Kim, Ghi Su Kim, Hong Kyu Kim, Joong Yeol Park, Young Kee Shong, Ki Up Lee; J Korean Endocr Soc. 1996;11(2):163-174. Published online November 7, 2019

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Abstract PDF: Background
Multiple endocrine neoplasia type I(MEN I) is a rare, eomplex, and potentially lethal disease. In Korean, only five anecdotal cases were reported as yet. The authors rescently experienced four cases of MEN I, and analysed the clinieal characteristics of MEN I in Koreans. Methods: The authors evaluated nine cases of MEN I, retrospectively. Four cases were analysed by clinical records in patients admitted to Asan Medical Center and five cases were reviewed by previously reported Korean literature from 1986 to 1995. Results: The average age was 39 years(ranged from 33 to 59 years). Eight of the nine patients had hyperparathyroidism documented by elevated serum calcium and PTH level with or without evidence of parathyroid mass. Initial presenting manifestations were symptomatic urinary stone, hypoglycernia due to insulinoma, hypogonadism, acromegaly, or peptic ulcer. Eight of nine patients had pancreatic islet cell tumors, and three of them were be malignant by radiologic and/or pathologic findings. The pancreatic tumors produced various hormones, such as gastrin, insulin, glucagon, or combination of them. Six of the nine cases had pituitary lesion. The most cornmon pituitary tumor was prolactinoma and the remaining was GH or GH and TSH producing tumor. In addition to the major components of MEN I, four had adrenocortical hyperplasia or adenoma and two had carcinoid tumor. There was only one familial case. Conclusion: The clinical charateristics of MEN I in Korean are mostly not different from the previous reports except older age at diagnosis, more comrnon adrenal involvement(44%) and gastrointestinal carcinoid tumor(22%). Although only one case was familial, more cases could be found if careful screening were done for the family members of the MBN I patients. In addition, screening and close follow up for endocrine pancreatic tumors are required for MEN I patients without detectable pancreatic lesion becau~se the malignant potential of pancreatic tumors has beeome an increasing concem for the prognosis of MEN I.

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1: Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee; Endocrinol Metab. 2014;29(3):270-279. Published online September 25, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.3.270

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Background

Multiple endocrine neoplasia type 1 (MEN1) is a familial syndrome characterized by the parathyroid, pancreas and pituitary tumors. Parathyroid tumors are the most common clinical manifestations, occurring in more than 90% of MEN1 patients. Heterozygous germline mutations of the MENIN gene underlie the tumorigenesis in MEN1 and epigenetic alterations along with germline mutations may contribute to tumorigenesis. Here, we investigated the associations between genotype and phenotype in Korean MEN1 patients.

Methods

We analyzed medical records from 14 unrelated MEN1 patients who had newly confirmed MENIN germline mutations, together with 14 previous reports in Korea. Aberrant DNA methylations were also examined in MEN1-related parathyroid tumors using the Infinium HumanMethylation 450 BeadChip.

Results

Total 28 germline mutations of MENIN were relatively highly concentrated in exons 7 and 8 compared to previous reports from Western countries. Six mutations (c.111dupT/p.S38Ffs^*79, c.225_226insT/p.T76Yfs^*41, c.383_398del16/p.S128Tfs^*52, c.746dupT/p.H250Afs^*20, c.1150G>T/p.E384^*, and c.1508G>A/p.G503N) were newly found in the present study. Of interest, four patients (15%) showed unusual initial presentations and three patients were diagnosed incidentally at the general medical checkup. We also found three distinct sites in exon 2 of MENIN were significantly hypomethylated in the MEN1 parathyroid tumors, comparing correspondent blood samples.

Conclusion

We also have found a lack of genotype/phenotype correlation in Korean MEN1 patients. There were not a few unusual initial manifestations in MEN1 patients, thus, genetic testing for the MENIN germline mutations can provide important information for the better prognosis. Further studies are warranted to investigate altered DNA methylations in the MENIN gene involved in tumorigenesis.

Citations

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Genotype-based prognosis prediction for MEN1-Related pancreatic neuroendocrine tumors in Korean patients a single-center retrospective study
Juwan Kim, Seung Soo Hong, Sung Hyun Kim, Ho Kyoung Hwang, Namki Hong, Yumie Rhee, Chang Moo Kang
Pancreatology.2025; 25(1): 134. CrossRef
Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
Kyoung Jin Kim, Min Heui Yu, Yoon-a Hwang, Shinje Moon, Namki Hong, Yumie Rhee
Frontiers in Endocrinology.2025;[Epub] CrossRef
Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim
Endocrinology and Metabolism.2024; 39(6): 956. CrossRef
Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome
Laura Pierotti, Elena Pardi, Elisa Dinoi, Paolo Piaggi, Simona Borsari, Simone Della Valentina, Chiara Sardella, Angela Michelucci, Maria Adelaide Caligo, Fausto Bogazzi, Claudio Marcocci, Filomena Cetani
Frontiers in Endocrinology.2023;[Epub] CrossRef
A Case of Asymptomatic Multiple Endocrine Neoplasia Type I with Thymic Carcinoid
Suk Ki Park, Moon Won Lee, In Sub Han, Young Joo Park, Sung Yong Han, Joon Woo Park, Bong Eun Lee, Gwang Ha Kim, Sang Soo Kim
The Korean Journal of Helicobacter and Upper Gastrointestinal Research.2019; 19(1): 65. CrossRef
Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives
Fatemeh Khatami, Seyed Mohammad Tavangar
Biomarker Insights.2018;[Epub] CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee
Endocrinology and Metabolism.2015; 30(1): 47. CrossRef

Adrenal gland
Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1: Dong Min Lee, Seung Hee Yu, Hyun Hwa Yoon, Kang Lock Lee, Young Sil Eom, Kiyoung Lee, Byung-Joon Kim, Yeun Sun Kim, Ie Byung Park, Kwang-Won Kim, Sihoon Lee; Endocrinol Metab. 2014;29(2):146-153. Published online June 26, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.2.146

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Background

Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above.

Methods

A 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1.

Results

Genomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion.

Conclusion

There is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma could be suspected.

Citations

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Diffuse cavernous hemangioma of the skull misdiagnosed as skull metastasis in breast cancer patient: one case report and literature review
Huizhi Liu, Xiaojing Chang, Hua Shang, Feng Li, Huandi Zhou, Xiaoying Xue
BMC Cancer.2019;[Epub] CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee
Endocrinology and Metabolism.2015; 30(1): 47. CrossRef

Case Reports

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene.: Min Jung Kim, Eun Hee Kim, Mi Seon Shin, Joo Hui Kim, Hee Kyung Na, Seong Joon Park, Sang Ah Lee, Eun Hee Koh, Woo Je Lee, Ki Ho Song, Joong Yeol Park, Ki Up Lee, Gu Hwan Kim, Han Wook Yoo, Min Seon Kim; Endocrinol Metab. 2011;26(2):171-176. Published online June 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.2.171

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Abstract PDF

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.

Citations

Citations to this article as recorded by

Parathyroid disorder and concomitant thyroid cancer in patients with multiple endocrine neoplasia type 1
Ying Wang, Sheng Cai, He Liu, Rui-Na Zhao, Xing-Jian Lai, Ke Lv, Yu-Xin Jiang, Jian-Chu Li
Medicine.2021; 100(36): e27098. CrossRef
Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef

A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A.: Yun Jung Lee, Suk Chon, Sang Ho Lee, Tae Won Lee, Chun Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim; Endocrinol Metab. 2010;25(2):135-141. Published online June 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.2.135

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Abstract PDF: Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2A. We describe here a rare case of MEN 2A in a patient who presented with an acute catecholamine-induced cardiomyopathy with cardiogenic shock and acute renal failure. The patient was diagnosed with pheochromocytoma and MTC associated with MEN 2A, which was confirmed by the detection of a RET proto-oncogene mutation at exon 11 on codon 634 (Cys634Arg). During familial screening, the patient's younger sister was found to have a benign thyroid nodule. Re-evaluation of this thyroid nodule revealed MTC with the same gene mutation. We also provide a review of the relevant literature.

Ectopic ACTH Syndrome with Bilateral Pheochromocytoma in Multiple Endocrine Neoplasia Type 2A.: Ji Mi Moon, Yoon Jung Kim, Young Jin Seo, Hye Yoon Choi, Joo Hyong Kim, Ju Ri Park, Yun Jeong Lee, Hee Young Kim, Sin Gon Kim, Dong Seop Choi; J Korean Endocr Soc. 2009;24(4):265-271. Published online December 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.4.265

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Abstract PDF

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN 2A arises due to a germline missense mutation of the RET proto-oncogene. Specific RET mutation analysis has revolutionized the diagnosis and therapy of this disorder, and early thyroidectomy may have lowered the morbidity and mortality associated with these diseases. Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of ACTH outside of the pituitary gland; the most common causes are malignancies, but rarely adrenal pheochromocytoma may be the cause.

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Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing’s syndrome: case report and a systematic review
Wei Wang, Wei-Ying Chen, Mei-Xian Zhang, Zhen-Yu Chen, Zhi-Lie Cao, Jun-Wei Wang, Wu-Gen Yao, Jian-Qiang Zhao, Fei-Ping Li, Hong-Yuan Yu, Jun Lu, Xiao-Ping Qi
Frontiers in Endocrinology.2025;[Epub] CrossRef
Pheochromocytoma With High Adrenocorticotropic Hormone Production Capacity Without Pigmentation and Cushingoid Symptoms: A Case Report With a Literature Review
Gen Mizutani, Masashi Isshiki, Eisuke Shimizu, Daigo Saito, Akira Shimada
Cureus.2024;[Epub] CrossRef
Ectopic ACTH- and/or CRH-Producing Pheochromocytomas
Patrick F Elliott, Thomas Berhane, Oskar Ragnarsson, Henrik Falhammar
The Journal of Clinical Endocrinology & Metabolism.2021; 106(2): 598. CrossRef
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature
Jenan N Gabi, Maali M Milhem, Yara E Tovar, Emhemmid S Karem, Alaa Y Gabi, Rodhan A Khthir
Journal of the Endocrine Society.2018; 2(7): 621. CrossRef
Adrenocorticotropic hormone (ACTH)-producing pheochromocytoma presented as Cushing syndrome and complicated by invasive aspergillosis
Jae Ho Cho, Da Eun Jeong, Jae Young Lee, Jong Geol Jang, Jun Sung Moon, Mi Jin Kim, Ji Sung Yoon, Kyu Chang Won, Hyoung Woo Lee
Yeungnam University Journal of Medicine.2015; 32(2): 132. CrossRef

A Case of Multiple Endocrine Neoplasia Type I with Atypical Clinical Course.: Yun Sun Choi, Youn Sun Bai, Bon Jeong Ku, Young Suk Jo, Young Kun Kim, Heung Kyu Ro, Minho Shong; J Korean Endocr Soc. 2008;23(4):266-271. Published online August 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.4.266

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Abstract PDF

Multiple endocrine neoplasia type 1 (MEN 1) is characterized by the combined occurrence of primary hyperparathyroidism, enteropancreatic tumors and anterior pituitary adenoma. Yet carcinoid tumors, adrenal adenoma and lipoma might exist simultaneously. Thymic carcinoid tumors, which are recognized as one of the causes of death for patients with MEN 1, are uncommon and their natural history has barely been investigated.

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A rare case of multiple endocrine neoplasia type 1 initially presenting as an asymptomatic, huge mediastinal mass: case report
Ji Eun Jun, You-Cheol Hwang, Kyu Jeong Ahn, Ho Yeon Chung, In-Kyung Jeong
BMC Endocrine Disorders.2021;[Epub] CrossRef
A Case of Asymptomatic Multiple Endocrine Neoplasia Type I with Thymic Carcinoid
Suk Ki Park, Moon Won Lee, In Sub Han, Young Joo Park, Sung Yong Han, Joon Woo Park, Bong Eun Lee, Gwang Ha Kim, Sang Soo Kim
The Korean Journal of Helicobacter and Upper Gastrointestinal Research.2019; 19(1): 65. CrossRef
Incidental metastatic mediastinal atypical carcinoid in a patient with parathyroid adenoma: a case report
Zareen Kiran, Asma Ahmed, Owais Rashid, Saira Fatima, Faizan Malik, Saulat Fatimi, Mubassher Ikram
Journal of Medical Case Reports.2017;[Epub] CrossRef
Multiple Endocrine Neoplasia Type 1 Presenting with an Invasive Giant Prolactinoma
Jinhoon Cha, Jin Seo Kim, Jung Suk Han, Yeon Won Park, Min Joo Kim, Yun Hyi Ku, Hong Il Kim
The Korean Journal of Medicine.2016; 91(3): 300. CrossRef
Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef
A Case of Asymptomatic Multiple Endocrine Neoplasia Type 1 Detected Incidentally on Health Screening
Pyung-San Cho, Hoon Park, Guk-Haeng Lee, Myung-Chul Lee
Korean Journal of Otorhinolaryngology-Head and Neck Surgery.2012; 55(6): 373. CrossRef

A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene.: Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun Kyung Chung, Myung Chul Chang, Mi Seon Kwon, Hee Jin Kim; J Korean Endocr Soc. 2007;22(6):453-459. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.453

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Abstract PDF

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. MEN2A arises due to germline missense mutations of the RET proto-oncogene. Specific RET mutations correlate with the onset of age and the aggressiveness of a medullary thyroid carcinoma. However, the clinical presentation varies even within families, where patients carry the same mutation. Recently, it has been reported that polymorphisms of RET may have a modifier effect on the presentation. We experienced a case of 42-year-old man, whose bilateral pheochromocytoma and medullary thyroid carcinoma were incidentally found. Genetic testing detected a mutation in codon 634 (C634R) and a polymorphism in codon 691 (G691S) of the RET proto-oncogene. His mother, younger brother and his only son had the same mutation and polymorphism. We report this case with a review of the literature about RET gene polymorphisms.

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A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A
Yun Jung Lee, Suk Chon, Sang-Ho Lee, Tae-Won Lee, Chun-Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong-Taek Woo, Sung-Woon Kim, Jin-Woo Kim, Young Seol Kim
Endocrinology and Metabolism.2010; 25(2): 135. CrossRef
A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism
Min-Kyu Kang, Jung-Min Lee, Ji-Hyun Kim, Min-Young Lee, Ji Hyun Kim, Sung Dae Moon, Je-Ho Han, Sang-Ah Chang
Journal of Korean Endocrine Society.2009; 24(4): 293. CrossRef

A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.: Young Eun Jo, Yong Jun Choi, Yun Kyung Kim, Sang Mi Ahn, Sun Hye Jung, Hae Jin Kim, Dae Jung Kim, Kwan Woo Lee, Ji Hee Hong, Seon Yong Jeong, Hyon J Kim, Yoon Sok Chung; J Korean Endocr Soc. 2007;22(1):68-73. Published online February 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.1.68

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Abstract PDF

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and pituitary gland tumors. It is caused by mutation of the MEN1, a tumor suppressor gene, with more than 400 different MEN1 mutations having been described. Herein is reported the case of a 26-year-old woman who had complained of personality and behavior changes, coupled with repetitive loss of consciousness. Her random plasma glucose and insulin were 68 mg/dL and 67.3 microIU/mL, respectively. Two pancreatic masses were noted on abdominal computed tomography, with hypercalcemia noted from a routine chemistry test. Her diagnosis was that of MEN1; therefore, her first-degree relatives were also screened. DNA analysis was also performed, from which a MEN1 gene mutation (738del4 -> new nomenclature: 628del4) was detected. Knowledge of the MEN1 mutation status could provide early recognition of a tumor.

Citations

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Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef
Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef

A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation.: Hye Young Sung, Yeon Joo Chun, Hyeug Lee, Bum Jun Kwon, Kun Woo Park, Jung Min Lee, Sung Dae Moon, Sang Ah Chang, Je Ho Han; J Korean Endocr Soc. 2006;21(6):560-566. Published online December 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.6.560

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Abstract PDF

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder that's characterized by the combined occurrence of primary hyperparathyroidism, endocrine pancreatic tumors and anterior pituitary adenomas, but such manifestations as carcinoid tumors, adrenal adenoma and lipoma are also seen. We report here on a case of a 52-years old man with MEN type 1. He had a parathyroid adenoma, empty sella and a non-functioning pancreatic and adrenal mass. On the genetic analysis, he was proven to have a mutation in the MEN1 gene (exon 2, 200-201, INS AGCCC). On the family study for the mutation, one of his siblings and his son proved to have the same mutation.

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Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
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Yongsoo Park
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Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef

A Case of Multiple Endocrine Neoplasia Type 1 with Mutation in MENIN Gene.: Se Eun Park, Eun Seok Kang, Hyun Joo Lee, So Hun Kim, Mi Young Do, Shin Ae Kang, Seung Jin Han, Hyeong Jin Kim, Chul Woo Ahn, Bong Soo Cha, Sung Kil Lim, Kyung Rae Kim, Il Jin Kim, Hyun Chul Lee; J Korean Endocr Soc. 2005;20(1):71-77. Published online February 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.1.71

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Abstract PDF

Multiple endocrine neoplasia type 1(MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland. The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein. We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial -stimulated venous sampling(ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene(exon 2, 200~201insAGCCC).

Citations

Citations to this article as recorded by

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef
A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in theMEN1Gene
Min Jung Kim, Eun Hee Kim, Mi-Seon Shin, Joo Hui Kim, Hee Kyung Na, Seong Joon Park, Sang Ah Lee, Eun Hee Koh, Woo Je Lee, Ki Ho Song, Joong-Yeol Park, Ki-Up Lee, Gu-Hwan Kim, Han-Wook Yoo, Min-Seon Kim
Endocrinology and Metabolism.2011; 26(2): 171. CrossRef
Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef
Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene
Heekyoung Choi, Sehyun Kim, Jae-Hoon Moon, Yoon Hee Lee, Yumie Rhee, Eun Seok Kang, Chul Woo Ahn, Bong Soo Cha, Eun Jig Lee, Kyung Rae Kim, Hyun Chul Lee, Seon Yong Jeong, Hyun Ju Kim, Sung-Kil Lim
Yonsei Medical Journal.2008; 49(4): 655. CrossRef
A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation
Young Eun Jo, Yong-Jun Choi, Yun Kyung Kim, Sang Mi Ahn, Sun Hye Jung, Hae Jin Kim, Dae Jung Kim, Kwan Woo Lee, Ji-Hee Hong, Seon-Yong Jeong, Hyon J Kim, Yoon-Sok Chung
Journal of Korean Endocrine Society.2007; 22(1): 68. CrossRef
A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation
Hye-Young Sung, Yeon-Joo Chun, Hyeug Lee, Bum Jun Kwon, Kun Woo Park, Jung Min Lee, Sung Dae Moon, Sang Ah Chang, Je-Ho Han
Journal of Korean Endocrine Society.2006; 21(6): 560. CrossRef

A Case of Multiple Endocrine Neoplasia Associated with VIPoma.: Si Won Lee, Young Sik Choi, Yo Han Park, Kyung Seung Oh, Jung Woo Shin, Il Jin Kim, Shinya Uchino; J Korean Endocr Soc. 2005;20(1):64-70. Published online February 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.1.64

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Abstract PDF

Multiple endocrine neoplasia I(MEN I) is a genetic disorder that consists of neoplasia of neuroendocrine type in the parathyroid glands, in the islets of Langerhans in the pancreas, and in the anterior pituitary gland. Primary hyperparathyroidism is the most common feature and occurs in approximately 95% of MEN I patients. Pancreatic islet cell tumors occur in 40% of MEN I patients. Most of these tumors produce excessive amounts of hormones, such as gastrin, insulin, glucagon and vasoactive intestinal polypeptide(VIP). VIP-producing pancreatic tumors(VIPoma) associated with MEN I are rare and so far only one has been reported in Korea. Recently, we came across a case of MEN I, associated VIPoma presented persistent hypercalcemia after a parathyroidectomy. A 70 year old man had suffered from large amount of watery diarrhea, severe general weakness and paralysis of lower limbs for 3 months which suggests symptoms of hypercalcemia. Before the patient visited our hospital, he underwent subtotal parathyroidectomy due to hyperparathyroidism. Even though he was operation, there was no subsidization of the symptoms and abnormal findings of blood chemistry such as hypercalcemia, hypocalemia were remained unchanged. However, the parathyroid hormone level was still within normal limits. Abdominal computerized tomography scan demonstrated a mass of 2.5cm diameter in tail of the pancreas. As serum level of VIP hormone was also elevated, distal pancreatectomy was carried out to performed. There was improvement in the symptoms towards the normal condition and the level of biochemical parameters such as serum potassium, calcium and VIP, were also within the normal limits. In a direct sequence analysis, GAC-->CAT(Asp-->His) point mutation, at codon 383 of exon 9 of the MEN I gene was identified in both the patient and his son. The authors report a rare case of VIPoma associated with MEN I with review of literature on MEN I.

Citations

Citations to this article as recorded by

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef
Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef
Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene
Heekyoung Choi, Sehyun Kim, Jae-Hoon Moon, Yoon Hee Lee, Yumie Rhee, Eun Seok Kang, Chul Woo Ahn, Bong Soo Cha, Eun Jig Lee, Kyung Rae Kim, Hyun Chul Lee, Seon Yong Jeong, Hyun Ju Kim, Sung-Kil Lim
Yonsei Medical Journal.2008; 49(4): 655. CrossRef

Original Article

A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene.: Hee Young Kim, Ji Yeon Lee, Sung Bum Kim, Kye Won Lee, Ji A Seo, Jeong Heon Oh, Sin Gon Kim, Kyung Mook Choi, Sei Hyun Baik, Dong Seop Choi, Nan Hee Kim; J Korean Endocr Soc. 2003;18(5):481-488. Published online October 1, 2003

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Abstract PDF: Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2. The analysis of the RET mutations has replaced the measurement of the calcitonin level in the diagnosis of the MEN carrier state. Specific RET codon mutations correlate with the MEN 2 syndromic variant, the age at onset of the medullary thyroid carcinoma (MTC) and the aggressiveness of the MTC. Herein, our experience of a 47-year-old woman, who had a bilateral pheochromocytoma and MTC, and MEN 2A confirmed by the detection of an RET proto-oncogene mutation at axon 10 on codon 618, is reported. Her sister was found to have the same mutant gene. After a total thyroidectomy and bilateral adrenalectomy, the calcitonin and catecholamine levels were normalized, and the patient discharged without problems. This case is reported, with a review of the literature.

Case Report

A Case of Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene.: Tae Yong Kim, Jae Kyung Hwang, Min Kyong Moon, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Yo Kyu Yoon, Bo Youn Cho; J Korean Endocr Soc. 2003;18(1):85-93. Published online February 1, 2003

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Abstract PDF: A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The patient had previously undergone a Duhamel's operation due to a megacolon at 6 years old, minor surgery to remove small tumors on the lip at 8 years old, and a bilateral osteotomy of the femur, due to coxa valga, at 15 years old. She underwent a total thyroidectomy and neck dissection, due to a growing thyroid nodule, despite thyroxine treatment, at 19 years old. The pathology revealed a medullary thyroid carcinoma. There was no history of MEN 2B in her family. She had prominent lips, multiple oral mucosal masses, and marfanoid habitus. During the subsequent follow-up, a positron emission tomogram was taken due to a persistently high level of serum calcitonin, despite repeated neck dissections, which revealed a mass in the right adrenal gland. Adrenomedullary function tests showed high levels of urinary catecholamine metabolites, and a genetic analysis of the peripheral leukocyte showed a codon 918 mutation (Met918Thr) at exon 16 of the RET proto-oncogene. The patient underwent a right adrenalectomy and the pathology revealed a pheoch-romocytoma.

Original Article

Small Medullary Thyroid Cancer Dectected by Genetic Mutation Screening in Men IIa Family.: Jae Hoon Chung, Kwang Won Kim, Ji Eun Kim, Byoung Joon Kim, Sung Hoon Kim, Kyung Ah Kim, Myung Sik Lee, Moon Gyu Lee; J Korean Endocr Soc. 1998;13(2):230-239. Published online January 1, 2001

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Abstract PDF: Multiple endocrine neoplasia (MEN) Ila is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has been shown to be associated with germ-line mutatians in the RET proto-oncogene. Presymptomatic screening of medullary thyroid carcinoma in MEN IIa families enables the early diagnosis of this tumor with its significant morbidity, We describe a 19-year-old woman fmm a MEN IIa family who was founded by DNA analysis to be a gene carrier of MEN IIa and then was diagnosed, using a pentagastrin stimulation test, as having presymptomatie medullary thyroid carcinoma She underwent thyroidectomy and histologic examination confirmed medullary thyroid carcinoma. It is cancluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnstlc test of choice for identifying family members at risk for MEN IIa and thyroidectomy on the basis of genetic analysis is a rational course of action.

Case Reports

A Case of Insulinoma Combined with Pheochromocytoma.: Si Hoon Lee, Young Hoon Youn, Sung Kil Lim, Bong Soo Cha, Hyun Chul Lee, Tae Woong Noh, Kap Bum Huh; J Korean Endocr Soc. 2000;15(4-5):640-647. Published online January 1, 2001

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Abstract PDF: Multiple endocrine neoplasia (MEN) is a combination of endocrine tumor associations and consists of 3 types: 1, 2A and 2B. Herein, we report a case of insulinoma which is combined with pheochromocytoma discovered at the left adrenal gland which was treated by surgical resection. We think there is a possibility of a new type of multiple endocrine neoplasia (MEN).

A Case of Multiple endocrine neoplasia type 2a.: Seung Jae Hong, In Myung Yang, Jeong Taek Woo, Jin Woo Kim, Young Seol Kim, Young Kil Choi, Yong Sun Yun, Chung Hwan Lee, Seong Ho Lee, Deok Yoon Kim, Sung Weon Kim; J Korean Endocr Soc. 1997;12(2):328-337. Published online January 1, 2001

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Abstract PDF: Multiple endocrine neoplasia type2a (MEN type2a) is a dominantly inherited cancer syndrome which is characterized by medullary thyroid carcinoma, pheochromocytoma and parathyroid hyperplasia or adenoma. Recent reports show that DNA analysis will be introduced into screening of MEN type2a families. Regular prospective screening and appropriate surgical intervention can reduce the morbidity and mortality due to MEN type2a. We experienced a case of MEN type 2a in a 46-year-old female patient. She had undergone bilateral adrenalectomy due to pheochromocytoma, followed by a total radical thyroidectomy, which revealed medullary thyroid carcinoma of the both thyroid gland and parathyroid hyperplasia.

A Case of Multiple Endocrine Neoplasia Type I Presented with Secondary Amenorrhea and Osteoporosis.: Sang Bum Hong, Seok Jun Hong, Young Ki Song, Ki Soo Kim, Sang Wook Kim, Ki Ub Lee, Min Kyu Kim, Seung Mo Hong, Duck Jong Han; J Korean Endocr Soc. 1998;13(4):684-689. Published online January 1, 2001

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Abstract PDF: MEN type 1 is characterized primarily by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. Pancreatic islet tumors in MEN type 1 produce different kinds of hormone which were pancreatic polypeptide, gastrin, glucagon, insulin and so on. To date, ten cases had been reported in Korea. We report another case with MEN type 1 having prolatin-secreating pituitary adenoma, parathyroid hyperplasia and insulinoma. A 36-year-old woman was admitted because of long-standing amenorrhea and recently diagnosed osteoporosis. Otherwise, she had been in good health except experiencing one episode of loss of consciousness after skipped meal. The blood chemistries were normal except hypercalcemia and hypophosphatemia. Hormonal studies revealed elevated levels of intact PTH and prolactin and decreased value of estradiol with low LH and FSH. The neck CT revealed 1 cm-sized nodule at posterior portion of right thyroid gland and 99mTc-sestamibi sintigraphy showed a increased uptake in left lower and right lower parathyroid glands. The sella MRI showed 0.7 cm-sized enhanced lesion in the left pituitary gland. The ratio of immunoreactive insulin to glucose was elevated and 3-4 pancreatic masses of variable size were identified by endoscopic ultrasonography and angiography. Subtotal parathyroidectomy and pyrolus-preserving pancreaticoduodenectomy with spleen-preserving distal pancreatectomy was done. Postoperative she had been doing well with normocalcemia and normoglycemia. Transsphenoidal adenonectomy was done 5 months later. Histologic examination of removed tissues revealed a single insulinoma, prathyroid hyperplasia and prolactin-secreating pituitary adenoma.

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