Pituitary Disease in MEN Type 1 (MEN1): Data from the France-Belgium MEN1 Multicenter Study

Vergès, Bruno; Boureille, Françoise; Goudet, P.; Murat, A.; Beckers, Albert; Sassolas, G.; Cougard, P; Chambe, B; Montvernay, Corinne; Calender, Alain

doi:10.1210/jcem.87.2.8145

Cited by 378 publications

(249 citation statements)

References 38 publications

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“…In patients with mutations in the MEN1 gene, pituitary adenomas occur in w40% of cases (7). These data are supported by murine models of men1 gene knockout, in which w37% of heterozygotic animals had pituitary tumors in adulthood (8).…”

Section: Men1mentioning

confidence: 74%

“…While no genotype-phenotype relation has been shown among the hundreds of MEN1 mutations now described, in familial MEN1, pituitary disease is significantly more frequent than in sporadic MEN1 cases (9). Prolactinomas predominate in MEN1, are larger than their sporadic counterparts and have a poorer response to dopamine agonist therapy (7). In MEN1, pituitary tumors are twice likely to be macroadenomas than in cases of sporadic pituitary adenomas (85% vs 42% respectively).…”

Section: Men1mentioning

confidence: 98%

“…In keeping with this, tumor signs caused by local compression are more frequent in MEN1 than in sporadic pituitary tumors. Females with MEN1 have an increased risk of developing a pituitary tumor and acromegaly demonstrates a female preponderance in the setting of MEN1 (7). Despite the in-depth characterization of MEN1 clinically and genetically, more than 20% of cases with clinical features characteristic of MEN1 have no demonstrable genetic mutation, raising the possibility of the involvement of other genes in this syndrome.…”

Section: Men1mentioning

confidence: 99%

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The clinical, pathological, and genetic features of familial isolated pituitary adenomas

Beckers¹,

Daly²

2007

eur j endocrinol

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154

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Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types -not limited to IFS -can occur in a familial setting in the absence of MEN1 and CNC; this phenotype is termed familial isolated pituitary adenomas (FIPA). Over the past 7 years, we have described over 90 FIPA kindreds. In FIPA, both homogeneous and heterogeneous pituitary adenoma phenotypes can occur within families; virtually all FIPA kindreds contain at least one prolactinoma or somatotropinoma. FIPA differs from MEN1 in terms of a lower proportion of prolactinomas and more frequent somatotropinomas in the FIPA cohort. Patients with FIPA are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. A minority of FIPA families overall (15%) exhibit mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene; AIP mutations are present in only half of IFS kindreds occurring as part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have a penetrance of over 50%. AIP mutations are extremely rare in patients with sporadic pituitary adenomas. This review deals with pituitary adenomas that occur in a familial setting, describes in detail the clinical, pathological, and genetic features of FIPA, and addresses aspects of the clinical approach to FIPA families with and without AIP mutations.

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Section: Men1mentioning

confidence: 74%

Section: Men1mentioning

confidence: 98%

Section: Men1mentioning

confidence: 99%

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The clinical, pathological, and genetic features of familial isolated pituitary adenomas

Beckers¹,

Daly²

2007

eur j endocrinol

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154

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“…The same IVS3-6C. T germ-line mutation has also been found in a patient with a sporadic pituitary tumour (19). Two other mutations that affect the same acceptor splice site are disease-related: IVS3-1G.…”

Section: Low Penetrance Of Men1mentioning

confidence: 66%

Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

Dreijerink¹,

Beek²,

Lentjes³

et al. 2005

eur j endocrinol

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Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome that is characterised by the occurrence of tumours in the parathyroid glands, the endocrine pancreas, the pituitary gland and the adrenal glands and by neuroendocrine carcinoid tumours, often at a young age. The penetrance of MEN1 among gene carriers is reported to be high; 82-99% at age 50. We present a patient with a history of parathyroid adenomas also showing signs of acromegaly. He turned out to be a carrier of a MEN1 germ-line mutation in intron 3 (IVS3-6C . G). This germ-line mutation was also found in nine of his family members. However, none of these relatives have developed any MEN1-related lesion yet, although several are older than 60 years. To our knowledge, a MEN1 family with as few clinical features as this family has not been reported to date. Because MEN1 patients have an increased risk of developing acromegaly, insulin-like growth factor (IGF-I) levels are monitored periodically. We investigated whether IGF-I levels might serve as a presymptomatic marker for acromegaly; 9% (3/33) of MEN1 patients showed temporary IGF-I elevations. One patient (1/3) later developed clinical signs of acromegaly. Possibly, acromegaly in MEN1 is preceded by a transient preacromegalic state. European Journal of Endocrinology 153 741-746

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“…Cushing's syndrome in MEN 1 can be caused by a pituitary adenoma, an ectopic tumor or rarely by an adrenal adenoma (1,(6)(7)(8)(9). Cushing's disease due to ACTH oversecretion accounts for only 5% of the pituitary tumors involved in MEN 1 (6). On the other hand, hyperparathyroidism (HPT) is the most common hormonal manifestation of MEN 1 (1,2), although only 1%-5% of the cases of primary HPT are related to the syndrome (10).…”

Section: Introductionmentioning

confidence: 99%

Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1

Boguszewski

Bianchet

Raskin³

et al. 2010

Arq Bras Endocrinol Metab

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We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.

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Pituitary Disease in MEN Type 1 (MEN1): Data from the France-Belgium MEN1 Multicenter Study

Cited by 378 publications

References 38 publications

The clinical, pathological, and genetic features of familial isolated pituitary adenomas

The clinical, pathological, and genetic features of familial isolated pituitary adenomas

Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1

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