Multiple endocrine neoplasia type 1
Updates to Article Attributes
Multiple endocrine neoplasia type I (MEN1), also known as Wermer syndrome, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the pituitary gland, islet cells of the pancreas and parathyroid glands.
There are other multiple endocrine neoplasia syndromes and these are discussed separately.
Epidemiology
Associations
In addition to the characteristic lesions involving the pituitary, parathyroid, and pancreas, numerous other lesions are encountered with greater frequency in patients with MEN1. These include:
- lipomas
- angiofibromas
-
adrenal cortical lesions
- adrenal adenomas
- adrenocortical hyperplasia
- cortisol-secreting adenomas
- adrenal carcinomas (rare)
- carcinoid tumours
- hepatic focal nodular hyperplasia5
- breast carcinoma8
- meningiomas8
Clinical presentation
Primary hyperparathyroidism is the commonest presentation, followed by pancreatic islet cell tumour with associated hypersecretion syndromes; gastrinomas are most common and associated with Zollinger-Ellison syndrome 7.
Pathology
The abnormality is related to a tumour suppressor gene located on chromosome 11q13. MENMEN type I is an autosomal dominant syndrome characterized by 1-7:
-
pituitary adenomas
- prolactinoma (most common)
- 30% of patients
-
islet cell tumours of the pancreas
- gastrinoma (most common) followed by glucagonoma
- 50-80% of patients
- a significant cause of mortality
- proliferative parathyroid gland lesions 7
-
parathyroid hyperplasia (most common)
- hyperparathyroidism is seen in 80-95% of patients
- parathyroid adenoma
- parathyroid carcinoma(rare)
-
parathyroid hyperplasia (most common)
Handy mnemonics for recalling MEN type I:
- PPP or PiParPanc
Pathology
AssociationsGenetics
In additionThe abnormality is related to the aforementioned characteristic lesions involvingMEN1, a tumour suppressor gene located on chromosome 11q13 which produces menin, a nuclear protein important for the pituitary, parathyroid, and pancreas, numerous other lesions are encountered with greater frequency in patients with MEN1regulation of gene expression. These include:
lipomasangiofibromas-
adrenal corticallesionsadrenal adenomasadrenocortical hyperplasiacortisol-secreting adenomas-
adrenal carcinomas(rare)
carcinoid tumours-
hepaticfocal nodular hyperplasia5
Treatment and prognosis
Treatment is directed to each individual manifestation. These are therefore discussed separately.
Pancreatic malignancy is the leading cause of mortality in MEN type I.
History and etymology
Harvey Cushing, was the first to publish a case of MEN1 with the classical triad in 1927. MEN1 was first characterized as a discrete pathological entity by an American-Austrian physician PPaul Wermer et al. in, whilst working at Presbyterian Hospital, as part of a Columbia University team in New York, USA in 1954 3,8. The MEN1 gene was discovered in 1997 8.
See also
- MEN1 (Wermer syndrome)
-
MEN2
- MEN2a (Sipple syndrome)
- MEN2b (mucosal neuroma syndrome)
- familial medullary thyroid carcinoma
- MEN4
- Carney complex
-<p><strong>Multiple endocrine neoplasia type I (MEN1)</strong>, also known as <strong>Wermer syndrome</strong>, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the <a href="/articles/pituitary-gland">pituitary gland</a>, islet cells of the <a href="/articles/pancreas">pancreas</a> and <a href="/articles/parathyroid-glands">parathyroid glands</a>. </p><p>There are other <a href="/articles/multiple-endocrine-neoplasia-syndromes">multiple endocrine neoplasia </a><a href="/articles/multiple-endocrine-neoplasia-syndromes">syndromes</a> and these are discussed separately. </p><h4>Clinical presentation</h4><p><a href="/articles/primary-hyperparathyroidism">Primary hyperparathyroidism</a> is the commonest presentation, followed by pancreatic islet cell tumour with associated hypersecretion syndromes; <a href="/articles/gastrinoma">gastrinomas</a> are most common and associated with <a href="/articles/zollinger-ellison-syndrome">Zollinger-Ellison syndrome</a> <sup>7</sup>. </p><h4>Pathology</h4><p>The abnormality is related to a tumour suppressor gene located on chromosome 11q13. MEN type I is an autosomal dominant syndrome characterized by <sup>1-7</sup>:</p><ul>- +<p><strong>Multiple endocrine neoplasia type I (MEN1)</strong>, also known as <strong>Wermer syndrome</strong>, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the <a href="/articles/pituitary-gland">pituitary gland</a>, islet cells of the <a href="/articles/pancreas">pancreas</a> and <a href="/articles/parathyroid-glands">parathyroid glands</a>. </p><p>There are other <a href="/articles/multiple-endocrine-neoplasia-syndromes">multiple endocrine neoplasia </a><a href="/articles/multiple-endocrine-neoplasia-syndromes">syndromes</a> and these are discussed separately. </p><h4>Epidemiology</h4><h5>Associations</h5><p>In addition to the characteristic lesions involving the pituitary, parathyroid, and pancreas, numerous other lesions are encountered with greater frequency in patients with MEN1. These include: </p><ul>
- +<li><a href="/articles/lipoma">lipomas</a></li>
- +<li><a href="/articles/angiofibroma">angiofibromas</a></li>
- +<li>
- +<a href="/articles/adrenal-cortex">adrenal cortical</a> lesions<ul>
- +<li><a href="/articles/adrenal-adenoma">adrenal adenomas</a></li>
- +<li><a href="/articles/adrenocortical-hyperplasia">adrenocortical hyperplasia</a></li>
- +<li>cortisol-secreting adenomas</li>
- +<li>
- +<a href="/articles/adrenal-cortical-carcinoma-1">adrenal carcinomas</a> (rare)</li>
- +</ul>
- +</li>
- +<li><a href="/articles/carcinoid-tumour-2">carcinoid tumours</a></li>
- +<li>hepatic <a href="/articles/focal-nodular-hyperplasia">focal nodular hyperplasia</a> <sup>5</sup>
- +</li>
- +<li>
- +<a title="Breast carcinoma" href="/articles/breast-neoplasms">breast carcinoma</a> <sup>8</sup>
- +</li>
- +<li>
- +<a title="Meningiomas" href="/articles/meningioma">meningiomas</a> <sup>8</sup>
- +</li>
- +</ul><h4>Clinical presentation</h4><p><a href="/articles/primary-hyperparathyroidism">Primary hyperparathyroidism</a> is the commonest presentation, followed by pancreatic islet cell tumour with associated hypersecretion syndromes; <a href="/articles/gastrinoma">gastrinomas</a> are most common and associated with <a href="/articles/zollinger-ellison-syndrome">Zollinger-Ellison syndrome</a> <sup>7</sup>. </p><p>MEN type I is an autosomal dominant syndrome characterized by <sup>1-7</sup>:</p><ul>
-<a href="/articles/parathyroid-carcinoma">parathyroid carcinoma</a> (rare)</li>- +<a href="/articles/parathyroid-carcinoma">parathyroid carcinoma</a> (rare)</li>
-</ul><p>Handy mnemonics for recalling MEN type I: </p><ul><li>PPP or PiParPanc</li></ul><h5>Associations</h5><p>In addition to the aforementioned characteristic lesions involving the pituitary, parathyroid, and pancreas, numerous other lesions are encountered with greater frequency in patients with MEN1. These include: </p><ul>-<li><a href="/articles/lipoma">lipomas</a></li>-<li><a href="/articles/angiofibroma">angiofibromas</a></li>-<li>-<a href="/articles/adrenal-cortex">adrenal cortical</a> lesions<ul>-<li><a href="/articles/adrenal-adenoma">adrenal adenomas</a></li>-<li><a href="/articles/adrenocortical-hyperplasia">adrenocortical hyperplasia</a></li>-<li>cortisol-secreting adenomas</li>-<li>-<a href="/articles/adrenal-cortical-carcinoma-1">adrenal carcinomas</a> (rare)</li>-</ul>-</li>-<li><a href="/articles/carcinoid-tumour-2">carcinoid tumours </a></li>-<li>hepatic <a href="/articles/focal-nodular-hyperplasia">focal nodular hyperplasia</a> <sup>5</sup>-</li>-</ul><h4>Treatment and prognosis</h4><p>Treatment is directed to each individual manifestation. These are therefore discussed separately.</p><p>Pancreatic malignancy is the leading cause of mortality in MEN type I. </p><h4>History and etymology</h4><p>MEN1 was first characterized by <strong>P Wermer</strong> et al. in 1954 <sup>3</sup>.</p><h4>See also</h4><ul>- +</ul><p>Handy mnemonics for recalling MEN type I: </p><ul><li>PPP or PiParPanc</li></ul><h4>Pathology</h4><h5>Genetics</h5><p>The abnormality is related to <em>MEN1</em>, a tumour suppressor gene located on chromosome 11q13 which produces menin, a nuclear protein important for the regulation of gene expression. </p><h4>Treatment and prognosis</h4><p>Treatment is directed to each individual manifestation. These are therefore discussed separately.</p><p>Pancreatic malignancy is the leading cause of mortality in MEN type I. </p><h4>History and etymology</h4><p>Harvey Cushing, was the first to publish a case of MEN1 with the classical triad in 1927. MEN1 was first characterized as a discrete pathological entity by an American-Austrian physician <strong>Paul Wermer</strong> et al., whilst working at Presbyterian Hospital, as part of a Columbia University team in New York, USA in 1954 <sup>3,8</sup>. The MEN1 gene was discovered in 1997 <sup>8</sup>.</p><h4>See also</h4><ul>
References changed:
- 8. Dreijerink KMA, Timmers HTM, Brown M. Twenty years of menin: emerging opportunities for restoration of transcriptional regulation in MEN1. (2017) Endocrine-related cancer. 24 (10): T135-T145. <a href="https://doi.org/10.1530/ERC-17-0281">doi:10.1530/ERC-17-0281</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/28811299">Pubmed</a> <span class="ref_v4"></span>