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Prolactinomas in a Large Kindred with Multiple Endocrine Neoplasia Type 1: Clinical Features and Inheritance Pattern
journal contribution
posted on 2023-05-16, 10:08 authored by Burgess, JR, Shepherd, JJ, Parameswaran, V, Hoffman, L, Timothy GreenawayTimothy GreenawayMultiple endocrine neoplasia type 1 (MEN 1) is associated with neoplasia and hyperfunction of the parathyroid and pituitary glands, pancreatic islet cells, and neuroendocrine cells of the gut. The inheritance pattern is autosomal dominant, and the underlying genetic defect is situated at chromosome 11q13. The MEN 1 gene behaves as a defective copy of a normally constitutive tumor suppressor gene. Development of the MEN 1 phenotype, however, is a multistep and multifactorial process. The Tasman 1 genealogy is the largest MEN 1 pedigree detected to date. Thus far, 90 related members with MEN 1 have been screened for evidence of prolactinoma. Prolactinomas were found in 18 patients (20%). Prolactinomas were not evenly distributed in the genealogy; in 2 branches of the overall genealogy prolactinomas were present in 50% or more of MEN 1-affected members. The familial distribution of prolactinomas in these branches was consistent with an autosomal dominant mode of inheritance. In the remainder of the pedigree, prolactinomas were uncommon and did not display this inheritance pattern. This pedigree represents one of the largest published MEN 1 genealogies in which the risk of developing prolactinoma follows an autosomal dominant pattern of transmission. It is the first to demonstrate an inheritance pattern for prolactinomas acting in addition to, yet distinct from, the inheritance of the underlying MEN 1 gene defect. These findings are consistent with the existence of an undefined second genetic defect involved in the pathogenesis of prolactinoma in MEN 1.
History
Publication title
Journal of Clinical Endocrinology and MetabolismVolume
81Issue
5Pagination
1841-1845ISSN
0021-972XDepartment/School
Tasmanian School of MedicinePublisher
Endocrine SocPlace of publication
Bethesda, Maryland, USARepository Status
- Restricted