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SALSA MLPA Probemix P017 MEN1

SALSA® MLPA® Probemix P017 MEN1 detects copy number variations in the MEN1 gene.

Specifications

Contents: 25 MLPA probes, including 15 probes for the MEN1 region (covering all 10 exons).

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: multiple endocrine neoplasia type 1 (MEN1).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P169 Hirschsprung-1

Contains probes for the RET gene. Activating mutations in RET are associated with MEN type 2B.

SALSA MLPA Probemix P177 CASR

Contains probes for the CASR gene, associated with familial hypocalciuric hypercalcaemia, a disease with certain similar symptoms as PHPT.

SALSA MLPA Probemix P244 AIP-MEN1-CDKN1B

Contains eleven MEN1 probes, including nine that are also present in P017, and is supplemented with probes for the AIP gene and several other genes in the 11q13 region, as well as CDKN1B.

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Intended purpose

The SALSA MLPA Probemix P017 MEN1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the MEN1 gene in genomic DNA isolated from human peripheral whole blood specimens. P017 MEN1 is intended to confirm a potential cause for and clinical diagnosis of multiple endocrine neoplasia type 1 (MEN1) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Multiple endocrine neoplasia (MEN) is an autosomal dominant cancer predisposition syndrome characterized by tumours found in two or more endocrine glands. MEN type 1 (MEN1) is primarily characterized by the occurrence of primary hyperparathyroidism (PHPT), which occurs in 95-100% of patients; pancreatic neuroendocrine tumours, which occur in 40-75% of patients; and pituitary adenoma, which is found in 30-50% of patients. Additionally, adrenal tumours, duodenal, thymic and lung neuroendocrine tumours, lipomas, facial angiofibroma, and collagenoma can be found. Most tumours are non-metastasizing, but many can cause striking and serious clinical effects due to increased secretion of hormones. It is estimated that in the general population 1 to 10 in 100.000 individuals develop MEN1 during their lifetime. Nine out of ten patients diagnosed with MEN1 have the familial form, and the penetrance is >95% by age 40 for confirmed pathogenic mutations. The mean age of death of MEN1 patients is between 50 and 55 years of age.

The single gene associated with MEN1 syndrome is MEN1. Heterozygous MEN1 pathogenic variants are found in ~90% of familial MEN1 syndrome patients and in ~65% of sporadic cases. Loss of heterozygosity (LOH) is frequently observed in MEN1 tumours suggesting that MEN1 acts as a tumour suppressor gene, as postulated by the Knudson 2-hit hypothesis. Besides point mutations, several deletions involving one or more complete exons in the MEN1 gene have been described (Carroll 2013, Concolino et al. 2016, Lemos and Thakker 2008, Romanet et al. 2019, Thakker 2014), including a pathogenic deletion of just the 5’-UTR (Kooblall et al. 2020).

Please note that this probemix is not suited to detect deletions or duplications in DNA extracted from fresh tumour tissue or from formalin-fixed paraffin embedded (FFPE) tumour materials. Probemix P244 (only version D1) can be used in a research setting to detect CNVs in the MEN1-region in DNA from tumour material.

Regulatory status

SALSA MLPA Probemix P017 MEN1 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P017-025R
SALSA MLPA Probemix P017 MEN1 – 25 rxn
MLPA
€ 281.00
P017-050R
SALSA MLPA Probemix P017 MEN1 – 50 rxn
MLPA
€ 550.00
P017-100R
SALSA MLPA Probemix P017 MEN1 – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P017 MEN1

  • Alvelos MI et al. (2013). MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism. Eur J Endocrinol. 168:119-28.
  • Beijers HJBH et al. (2019). Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome. Eur J Endocrinol. 180:K15-9.
  • Belar O et al. (2012). Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol (Oxf). 76:719-24.
  • Damjanovic SS et al. (2020). ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1). J Clin Endocrinol Metab. 105:e4531-42.
  • Isailovic T et al. (2019). Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation. J Med Biochem. 38:38-44.
  • Kövesdi A et al. (2019). True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome. Endocrine. 65:451-9.
  • Manoharan J et al. (2016). An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene. Endocrinol Diabetes Metab Case Rep. 2016:160011.
  • Owens M et al. (2008). Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 68:350-4.
  • Raef H et al. (2011). A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype. Clin Endocrinol (Oxf). 75:791-800.
  • Tham E et al. (2007). Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. J Clin Endocrinol Metab. 92:3389-95.

References

  • Carroll RW (2013). Multiple endocrine neoplasia type 1 (MEN1). Asia Pac J Clin Oncol. 9:297-309.
  • Concolino P et al. (2016). Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. Cancer Genet. 209:36-41.
  • Kooblall KG et al. (2021). Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression. J Bone Miner Res. 36:100-9.
  • Lemos MC et al. (2008). Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 29:22-32.
  • Romanet P et al. (2019). UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population. J Clin Endocrinol Metab. 104:753-64.
  • Thakker RV (2014). Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol. 386:2-15.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

IL

IVD-registered in Israel.