Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

Belar, Oihana; Hoz, C. de la; Pérez-Nanclares, Gustavo; Castaño, Luís; Gaztambide, Sonia

doi:10.1111/j.1365-2265.2011.04269.x

Cited by 68 publications

(37 citation statements)

References 47 publications

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“…This is attributable in part to differing laboratory techniques, aforementioned phenotypic copies and mutations elsewhere in the genome that can present clinically as MEN1. 3,9,56,97 The role of testing for mutations in these novel genes in the context of negative MEN1 mutational analysis remains to be established.…”

Section: Diagnosis Of Men1mentioning

confidence: 99%

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

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Multiple endocrine neoplasia type 1 (MEN1) is inherited in an autosomal dominant fashion and predisposes to the development of hyperplastic or neoplastic changes in the parathyroid and pituitary glands and the endocrine pancreas, along with numerous other characteristic tumors and features. The management of each entity differs to some degree from their sporadic counterparts, while the lack of a genotype-phenotype correlation requires lifelong clinical, biochemical and radiological screening for the development of new tumors. While the syndrome itself is relatively rare (a prevalence of 1-10/100 000), it is likely that health-care practitioners from numerous specialities will occasionally encounter a patient with MEN1 and therefore a basic knowledge of the syndrome is important. In addition, many of the associated tumors are seen commonly in sporadic form, and a judicious policy is therefore required in deciding how thoroughly patients who develop these tumors should be screened for MEN1. The current literature on MEN1 is reviewed and key learning points are suggested for the clinician.

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Section: Diagnosis Of Men1mentioning

confidence: 99%

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

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“…[87][88][89] Such families with MEN1-associated tumors and CDNK1B mutations are designated to have MEN4 (Table 23.2). To date eight different MEN4-associated mutations of CDKN1B, which is located on chromosome 12p13, have been reported, and all of these are associated with a loss of function.…”

Section: Multiple Endocrine Neoplasia Type 4 (Men4)mentioning

confidence: 99%

“…First, in the context of familial MEN1, in which a patient with one MEN1-associated tumor, e.g., a prolactinoma, did not have the familial mutation ( Figure 23.2); 85,86 and second, in the context of clinical MEN1, in which patients with two MEN1-associated tumors (e.g., parathyroid adenomas and prolactinomas, Figure 23.3), who did not have an MEN1 mutation, were demonstrated to have involvement of other genes. These genes may include: CDNK1B, which encodes the CDKI p27Kip1, whose mutations result in MEN4 (Tables 23.1 and 23.2); [87][88][89] CDC73, which encodes parafibromin, whose mutations result in the HPT-JT syndrome; the calcium-sensing receptor (CASR), whose mutations result in familial II. CLINICAL ASPECTS OF PRIMARY HYPERPARATHYROIDISM hypocalciuric hypercalcemia type 1 (FHH1); 86 and the aryl hydrocarbon receptor interacting protein (AIP), a tumor suppressor located on chromosome 11q13 whose mutations are associated with familial isolated pituitary adenomas (FIPA).…”

Section: Genetics and Screeningmentioning

confidence: 99%

Familial and Hereditary Forms of Primary Hyperparathyroidism

Thakker¹

2015

The Parathyroids

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“…Menin mutations are generally accepted as the main gene mutations involved in MEN1. While 5-10% of patients with MEN1 do not have any mutation in menin, some of these patients may have mutations in the cyclin-dependent kinase inhibitor 1B (CDKN1B) gene (41,42), and this has given rise to a new MEN4 or MENX syndrome, as it is commonly known. Apart from pituitary adenomas, parathyroid tumours may be found, and tumours in reproductive organs have also been reported, along with incidences of renal and adrenal tumours (42).…”

Section: Serum Igf1 Levelsmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: GH excess: diagnosis and medical therapy

Andersen

2014

European Journal of Endocrinology

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Acromegaly is predominantly caused by a pituitary adenoma, which secretes an excess of GH resulting in increased IGF1 levels. Most of the GH assays used currently measure only the levels of the 22 kDa form of GH. In theory, the diagnostic sensitivity may be lower compared with the previous assays, which have used polyclonal antibodies. Many GH-secreting adenomas are plurihormonal and may co-secrete prolactin, TSH and a-subunit. Hyperprolactinaemia is found in 30-40% of patients with acromegaly, and hyperprolactinaemia may occasionally be diagnosed before acromegaly is apparent. Although trans-sphenoidal surgery of a GH-secreting adenoma remains the first treatment at most centres, the role of somatostatin analogues, octreotide long-acting repeatable and lanreotide Autogel as primary therapy is still the subject of some debate. Although the normalisation of GH and IGF1 levels is the main objective in all patients with acromegaly, GH and IGF1 levels may be discordant, especially during somatostatin analogue therapy. This discordance usually takes the form of high GH levels and an IGF1 level towards the upper limit of the normal range. Pasireotide, a new somatostatin analogue, may be more efficacious in some patients, but the drug has not yet been registered for acromegaly. Papers published on pasireotide have reported an increased risk of diabetes mellitus due to a reduction in insulin levels. Pegvisomant, the GH receptor antagonist, is indicated -alone or in combination with a somatostatin analogue -in most patients who fail to enter remission on a somatostatin analogue. Dopamine-D2-agonists may be effective as monotherapy in a few patients, but it may prove necessary to apply combination therapy involving a somatostatin analogue and/or pegvisomant.

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Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

Abstract: Our data support that MEN1 gene is the main target for genetic analysis in clinical MEN1 syndrome. We confirm that in those patients without MEN1 gene mutation, other genes such as CDKN1B/p27Kip, or AIP in those including pituitary tumours should also be tested.

Cited by 68 publications

References 47 publications

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 1 (MEN1)

Familial and Hereditary Forms of Primary Hyperparathyroidism

MANAGEMENT OF ENDOCRINE DISEASE: GH excess: diagnosis and medical therapy

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