Multiple endocrine neoplasia type 1 other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Other diagnostic studies for multiple endocrine neoplasia type 1 include genetic testing, which demonstrates gene mutation in proband of MEN1 gene.

Diagnostic Studies

The diagnostic studies are as follows:[1][2][3][4][5][6]

  • Identifying a MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of tumors and earlier identification of at-risk family members.
  • Many studies have been performed to determine the prevalence of MEN1 gene mutations among patients with apparently sporadic multiple endocrine neoplasia type 1-related tumors.
  • Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present:
  • DNA sequencing is the primary method of genetic testing.
  • Haplotype analysis can be performed using specific locus markers flanking the MEN1 region and reaches a degree of confidence when a substantial number of affected members have been analysed.
  • Molecular genetic testing is used for predictive testing and prenatal diagnosis.
  • Sequence analysis detects sequence alterations upto 70-90% familial mutation and 65% simplex mutation.
  • Deletion testing detects MEN duplication or deletion upto 1-3% of the mutation.

Genetic Counselling

  • Multiple endocrine neoplasia type 1 is an autosomal dominant disorder.
  • Child of an individual to multiple endocrine neoplasia type 1 syndrome has 50% chance of inheritance.
  • Siblings of an individual affected by multiple endocrine neoplasia type 1 syndrome have 50% chance of inheritance.
  • If the germline mutation has been identified in an affected family member, molecular genetic testing can be used to screen the at risk relatives.
  • Prenatal diagnosis during pregnancies of individuals with increased risk is available.

References

  1. Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML (2012). "Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)". J. Clin. Endocrinol. Metab. 97 (9): 2990–3011. doi:10.1210/jc.2012-1230. PMID 22723327.
  2. Falchetti A (2017). "Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old". F1000Res. 6. doi:10.12688/f1000research.7230.1. PMC 5288685. PMID 28184288.
  3. Falchetti A (2010). "Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how". F1000 Med Rep. 2. doi:10.3410/M2-14. PMC 2948394. PMID 20948872.
  4. Agarwal SK, Ozawa A, Mateo CM, Marx SJ (2009). "The MEN1 gene and pituitary tumours". Horm. Res. 71 Suppl 2: 131–8. doi:10.1159/000192450. PMID 19407509.
  5. Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM (2009). "Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop". J. Clin. Endocrinol. Metab. 94 (2): 340–50. doi:10.1210/jc.2008-1758. PMID 19193909.
  6. Newey PJ, Thakker RV (2011). "Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice". Endocr Pract. 17 Suppl 3: 8–17. doi:10.4158/EP10379.RA. PMID 21454234.

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