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Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors.
Mod Pathol. 1999 Sep; 12(9):919-24.MP

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is characterized by the development of endocrine tumors of the parathyroid and pituitary glands, pancreas, and duodenum. Less frequently occurring tumors associated with MEN1 include non-endocrine tumors such as lipomas and angiofibromas. An increased incidence of thyroid neoplasms, leiomyomas, adrenal cortical hyperplasia, hepatic focal nodular hyperplasia, and renal angiomyolipoma has been noted in the MEN1 population. The pathogenesis of non-neuroendocrine tumors in MEN1 is unknown. We report a complex clinical course and a detailed morphologic and genetic analysis of a series of tumors that developed in a patient with MEN1. All tumors were microdissected and analyzed for loss of heterozygosity of the MEN1 gene. A germline mutation of the MEN1 gene was detected, and deletions of the MEN1 gene were consistently detected in multiple neuroendocrine tumors involving the parathyroid glands and the pancreas and a hepatic neuroendocrine tumor metastasis, as predicted by Knudson's "two hit" hypothesis. Two hits of the MEN1 gene were also detected in esophageal leiomyoma tissue, suggesting that tumorigenesis was directly related to the patient's underlying MEN1. In contrast, follicular thyroid adenoma, papillary thyroid carcinoma, hepatic focal nodular hyperplasia, and adrenal cortical hyperplasia consistently showed retained heterozygosity of the MEN1 gene with flanking markers and an intragenic marker. Therefore, these tumors appear to develop along pathogenetic pathways that are different from classical MEN1-associated tumors.

Authors+Show Affiliations

Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10496602

Citation

Vortmeyer, A O., et al. "Multiple Endocrine Neoplasia Type 1: Atypical Presentation, Clinical Course, and Genetic Analysis of Multiple Tumors." Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, vol. 12, no. 9, 1999, pp. 919-24.
Vortmeyer AO, Lubensky IA, Skarulis M, et al. Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Mod Pathol. 1999;12(9):919-24.
Vortmeyer, A. O., Lubensky, I. A., Skarulis, M., Li, G., Moon, Y. W., Park, W. S., Weil, R., Barlow, C., Spiegel, A. M., Marx, S. J., & Zhuang, Z. (1999). Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 12(9), 919-24.
Vortmeyer AO, et al. Multiple Endocrine Neoplasia Type 1: Atypical Presentation, Clinical Course, and Genetic Analysis of Multiple Tumors. Mod Pathol. 1999;12(9):919-24. PubMed PMID: 10496602.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. AU - Vortmeyer,A O, AU - Lubensky,I A, AU - Skarulis,M, AU - Li,G, AU - Moon,Y W, AU - Park,W S, AU - Weil,R, AU - Barlow,C, AU - Spiegel,A M, AU - Marx,S J, AU - Zhuang,Z, PY - 1999/9/25/pubmed PY - 1999/9/25/medline PY - 1999/9/25/entrez SP - 919 EP - 24 JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JO - Mod Pathol VL - 12 IS - 9 N2 - Multiple endocrine neoplasia type 1 (MEN1) is characterized by the development of endocrine tumors of the parathyroid and pituitary glands, pancreas, and duodenum. Less frequently occurring tumors associated with MEN1 include non-endocrine tumors such as lipomas and angiofibromas. An increased incidence of thyroid neoplasms, leiomyomas, adrenal cortical hyperplasia, hepatic focal nodular hyperplasia, and renal angiomyolipoma has been noted in the MEN1 population. The pathogenesis of non-neuroendocrine tumors in MEN1 is unknown. We report a complex clinical course and a detailed morphologic and genetic analysis of a series of tumors that developed in a patient with MEN1. All tumors were microdissected and analyzed for loss of heterozygosity of the MEN1 gene. A germline mutation of the MEN1 gene was detected, and deletions of the MEN1 gene were consistently detected in multiple neuroendocrine tumors involving the parathyroid glands and the pancreas and a hepatic neuroendocrine tumor metastasis, as predicted by Knudson's "two hit" hypothesis. Two hits of the MEN1 gene were also detected in esophageal leiomyoma tissue, suggesting that tumorigenesis was directly related to the patient's underlying MEN1. In contrast, follicular thyroid adenoma, papillary thyroid carcinoma, hepatic focal nodular hyperplasia, and adrenal cortical hyperplasia consistently showed retained heterozygosity of the MEN1 gene with flanking markers and an intragenic marker. Therefore, these tumors appear to develop along pathogenetic pathways that are different from classical MEN1-associated tumors. SN - 0893-3952 UR - https://www.unboundmedicine.com/medline/citation/10496602/Multiple_endocrine_neoplasia_type_1:_atypical_presentation_clinical_course_and_genetic_analysis_of_multiple_tumors_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -