Multiple Endocrine Neoplasia

 

Multiple endocrine neoplasia is part of a group of disorders that affect the endocrine system. This disorder greatly increases the risk of developing multiple cancerous and noncancerous tumors in glands such as the parathyroid, pituitary, and pancreas. Multiple endocrine neoplasia occurs when tumors are found in at least two of the three main endocrine glands. Tumors can also develop in organs and tissues other than endocrine glands. If the tumors become cancerous, some cases can be life-threatening. The disorder affects 1 in 30,000 people.

Type OMIM Gene Description
Type 1 131100 MEN1 Also known as MEN-1 or Wermer's syndrome. Affected people are born with 1 mutated copy of MEN1 gene in each cell, during their lifetime the other copy of the gene is mutated. This mutation causes cells to divide with little control resulting in tumors.
Type 2

171400

162300

155240

RET Autosomal dominant disorder classified into three subtypes: MEN2A, FMTC (familial medullary thyroid carcinoma), and MEN2B. All three subtypes carry a high risk for development of medullary carcinoma of the thyroid (MTC).

Purpose: Confirm a genetic basis for cancer/Identify at-risk family members

Methodology: Next-Generation Sequencing

Test Requisition: Sequencing Requisition

Specimen Requirements: 2-5 mL Blood-Lavender Top Tube

Panel CPT Codes: 81405x2 Cost: $1500.00 (Oklahoma Medicaid requires preauthorization for this test)

Turn-around-time: 6 weeks

Shipping Information

References

1. Aach, R., Kissane, J. M. (1969) “Clinicopathologic conference: multiple endocrine adenomatosis”. Am. J. Med. 47: 608-618.

2. Bale, S. J., Bale, A. E., Marx, S. J. (1989) “Mapping of multiple endocrine neoplasia type 1 with markers on chromosome 11q”. Cytogenet. Cell Genet. 51: 956.

3. Gardner, E., Papi, L., Easton, D. F., Cummings, T., Jackson, C. E., Kaplan, M., et al. (1993)” Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2”. Hum. Molec. Genet. 2: 241-246.

4. Emmertsen, K., Lamm, L. U., Rasmussen, K. Z., Elbrond, O., Hansen, H. H., Henningsen, K., et al. (1983) “Linkage and chromosome study of multiple endocrine neoplasia IIa”. Cancer Genet. Cytogenet. 9: 251-259.

5. Abu-Amero, K. K., Alzahrani, A. S., Zou, M., Shi, Y.(2006) “Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome” Oncogene 25: 677-684.

6. Farndon, J. R., Leight, G. S., Dilley, W. G., Baylin, S. B., Smallridge, R. C., Harrison, T. S., Wells, S. A., Jr.(1986) “Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity”.Brit. J. Surg. 73: 278-281.

 



 

 

 

 

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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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