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SALSA MLPA Probemix P225 PTEN

SALSA® MLPA® Probemix P225 PTEN detects copy number variations in the PTEN gene and the PTEN pseudogene PTENP1.

Specifications

Contents: 49 MLPA probes, including 22 probes for PTEN covering all 9 exons, 2 probes for PTENP1 and 10 flanking probes.

Tissue: genomic DNA isolated from human peripheral whole blood. Research use: genomic DNA from FFPE or fresh tumour tissue.

Application: PTEN hamartoma tumour syndrome (PHTS), which includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS). Research use: deletions or duplications in PTENP1.

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

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Intended purpose

The SALSA MLPA Probemix P225 PTEN is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in PTEN in genomic DNA isolated from human peripheral whole blood specimens. P225 PTEN is intended to confirm a potential cause for and clinical diagnosis of PTEN Hamartoma Tumour Syndrome (PHTS) and for molecular genetic testing of at-risk family members. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS). This probemix can also be used for the detection of deletions or duplications in the PTEN pseudogene (PTENP1) in a research setting.

For the full intended purpose, see the product description.

Clinical background

Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene that is mutated in a large number of cancers at high frequency. Defects in the PTEN gene are the main cause of PTEN Hamartoma Tumour Syndrome (PHTS), which is a dominantly inherited cancer predisposition syndrome, characterized by multiple hamartomas in several areas of the body. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS) (GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1488/).

CS (OMIM #158350) is inherited in an autosomal dominant manner and comprises 85% of PHTS cases. The incidence of CS is estimated to be 1:200,000. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by their late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%.

BRRS is inherited in an autosomal dominant manner. It is present at birth and is characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis, intellectual disability (50% of the cases) and development delay. The risk of developing cancer in BRRS patients with a PTEN pathogenic variant is similar to patients with CS.

PS is a highly variable, severe disorder characterized by progressive segmental or patchy overgrowth of diverse tissues of all germ layers, affecting the skeleton, skin, adipose tissue and central nervous systems. PS is a rare condition with an incidence of less than 1 in 1 million people worldwide and is associated with tumours, pulmonary complications, and deep vein thrombosis.

PLS describes individuals that do not meet the diagnostic criteria of Proteus syndrome, but share many of the characteristic signs and symptoms associated with this condition. Inheritance is autosomal dominant in those with a PTEN mutation.

PTENP1 can regulate cellular levels of PTEN (via binding to mRNAs that target PTEN) and thereby suppresses cell growth. It has been shown that PTENP1 is selectively lost in sporadic colon cancer (Poliseno et al. 2010). A specific PTENP1 deletion (not PTEN) was also demonstrated in human melanoma (Poliseno et al. 2011). Furthermore, the importance of PTENP1 as a tumour suppressor has been recently shown in head and neck squamous cell carcinoma (Liu et al. 2017). PTENP1 copy number detection is of great importance in cancer research, however, the clinical validity of this gene is not yet fully established.

Regulatory status

SALSA MLPA Probemix P225 PTEN 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 E1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P225-025R
SALSA MLPA Probemix P225 PTEN – 25 rxn
MLPA
€ 281.00
P225-050R
SALSA MLPA Probemix P225 PTEN – 50 rxn
MLPA
€ 550.00
P225-100R
SALSA MLPA Probemix P225 PTEN – 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
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

Learning

Publications

Selected publications using SALSA MLPA Probemix P225 PTEN

  • Ebrahimizadeh W et al. (2020). Design and Development of a Fully Synthetic Multiplex Ligation-Dependent Probe Amplification-Based Probe Mix for Detection of Copy Number Alterations in Prostate Cancer Formalin-Fixed, Paraffin-Embedded Tissue Samples. J Mol Diagn. 22:1246-63.
  • Ge NL et al. (2000). Expression of PTEN in PTEN-deficient multiple myeloma cells abolishes tumor growth in vivo. Oncogene. 19:4091-5.
  • Hollander MC et al. (2011). PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nat Rev Cancer. 11:289-301.
  • Innella G et al. (2021). PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis. Front Med (Lausanne). 8:688105.
  • Jonosky JB et al. (2020). Large bowel obstruction from advanced prostate cancer in a 41-year-old: the role of genetic testing. S Afr J Surg. 58:163.
  • Maiques O et al. (2014). FISH analysis of PTEN in endometrial carcinoma. Comparison with SNP arrays and MLPA. Histopathology. 65:371-88.
  • Nathanson KL et al. (2013). Tumor genetic analyses of patients with metastatic melanoma treated with the BRAF inhibitor dabrafenib (GSK2118436). Clin Cancer Res. 19:4868-78.
  • Sandell S et al. (2013). An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing. Br J Cancer. 108:438-41.
  • Wartenberg M et al. (2016). PTEN alterations of the stromal cells characterise an aggressive subpopulation of pancreatic cancer with enhanced metastatic potential. Eur J Cancer. 65:80-90.
  • Yehia L et al. (2020). The Clinical Spectrum of PTEN Mutations. Annu Rev Med. 71:103-116.
  • Zhou X-P et al. (2003). Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 73:404-11.

References

  • Liu J et al. (2017). Decreased expression of pseudogene PTENP1 promotes malignant behaviours and is associated with the poor survival of patients with HNSCC. Sci Rep. 7:41179.
  • Poliseno L et al. (2010). A coding-independent function of gene and pseudogene mRNAs regulates tumour biology. Nature. 465:1033-8.
  • Poliseno L et al. (2011). Deletion of PTENP1 pseudogene in human melanoma. J Invest Dermatol. 131:2497-500.
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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.