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Genotype-phenotype analysis in multiple endocrine neoplasia type 1
Maria A Kouvaraki1, Jeffrey E Lee, Suzanne E Shapiro
1Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA.
Archives of Surgery (Chicago, Ill. : 1960)
|June 7, 2002
Summary
Multiple endocrine neoplasia type 1 (MEN 1) is linked to MEN1 gene mutations. Specific mutation types and locations may correlate with tumor development, aiding genetic counseling for at-risk individuals.
Area of Science:
- Genetics
- Endocrinology
- Oncology
Background:
- Multiple endocrine neoplasia type 1 (MEN 1) syndrome is an autosomal dominant disorder.
- It is caused by germline mutations in the MEN1 gene.
- MEN 1 is characterized by tumors in parathyroid glands, pituitary, and pancreas, with variable expressivity and genetic heterogeneity.
Purpose of the Study:
- To investigate potential associations between genotype and phenotype in MEN 1 syndrome.
- To correlate specific MEN1 gene mutations with clinical manifestations of the syndrome.
Main Methods:
- Retrospective review of medical data from 1975 to 2001 for patients with MEN 1.
- Comparison of MEN1 gene mutation types and locations with syndrome manifestations.
Main Results:
- 109 patients from 24 kindreds were identified with MEN 1.
- Hyperparathyroidism (74%), pancreatic endocrine tumors (51%), and pituitary tumors (35%) were common phenotypes.
- Mutations in exons 2, 9, and 10 were most frequent. Frameshift mutations were associated with pancreatic endocrine tumors, and exon 2 frameshift mutations with pituitary tumors.
Conclusions:
- MEN1 mutation type and location may correlate with specific tumor phenotypes.
- This genotype-phenotype information can aid in genetic counseling and surveillance of at-risk patients.
- A definitive genotype-phenotype correlation is unlikely due to mutation heterogeneity.