Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1 (MEN1) is characterized by endocrine tumors, particularly in the parathyroid glands, anterior pituitary, and pancreatic islet cells. Primary tumors may be found in more than one endocrine organ and/or multiple tumors may be found in the same organ. MEN1-associated endocrine tumors cause an array of clinical and biochemical manifestations secondary to hormone hypersecretion: hyperparathyroidism (the most frequent MEN1-symptom with potential effects on the central nervous system (CNS), hypercalcemia, gastrointestinal, renal cardiovascular, and skeletal involvement), hypercortisolism, gigantism and acromegaly, prolactinoma (with associated oligomenorrhea, amenorrhea, and galactorrhea in females and sexual dysfunction in males), gastrinoma, and insulinoma. Non-endocrine tumors also are common and can include facial angiofibromas and collagenomas of the skin, lipomas, meningioma and ependymoma of the CNS, and leiomyomas. MEN1 is caused by mutations in the menin gene (MEN1), which are highly penetrant. Approximately 50% of MEN1 mutation carriers are symptomatic by age 20 and 95% are symptomatic by the age of 40.

Tests Available

Forms and Documents

Test Details

MEN1
  • Confirmation of a clinical diagnosis
  • To differentiate MEN1-related FIHP from other causes (mutations in CASR or HRPT2 genes)
  • Identification of at-risk family members
  • To determine appropriate surveillance and treatment protocols
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

176
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 227.1 Parathyroid gland
  • 227.3 Pituitary gland and craniopharyngeal duct (pouch), Craniobuccal pouch, Hypophysis Rathke's pouch, Sella turcica
* For price inquiries please email zebras@genedx.com

References

  1. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003
  2. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  3. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  4. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  7. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  8. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  9. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997

Forms and Documents

Test Details

MEN1
  • An individual with a personal and/or family history of tumors associated with multiple endocrine neoplasia, type I (MEN1) especially parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors, and anterior pituitary tumors. Other common features include adrenocortical and carcinoid tumors, facial angiofibromas, collagenomas, ependymomas, leiomyomas, lipomas, and meningiomas
  • An individual with multiple primary or multi-focal endocrine tumors
  • An individual with a personal and/or family history of isolated parathyroid tumors concerning for familial isolated hyperparathyroidism (FIHP) which may be associated with pathogenic variants in the MEN1 gene, among others
  • An unaffected individual with a family history suggestive of MEN1 (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • MLPA

Ordering

719
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1, 81404x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997
  2. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  3. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  4. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  7. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  8. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  9. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003.

Forms and Documents

Test Details

MEN1
  • Confirmation of a clinical diagnosis
  • To differentiate MEN1-related FIHP from other causes (mutations in CASR or HRPT2 genes)
  • Identification of at-risk family members
  • To determine appropriate surveillance and treatment protocols
  • Prenatal diagnosis
  • MLPA

Ordering

906
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003
  2. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  3. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  4. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  7. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  8. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  9. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997