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Genetic and biochemical screening for endocrine disease
P E Goretzki1, W Höppner, C Dotzenrath
1Chirurgische Klinik A, Heinrich-Heine-Universität Düsseldorf, Germany.
World Journal of Surgery
|December 5, 1998
Summary
Genetic screening for inherited endocrine diseases aids surgical patients. Early diagnosis via genetic testing for familial medullary thyroid cancer (MTC) and multiple endocrine neoplasia (MEN) improves survival and reduces morbidity.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Biochemical and genetic screening tests have transformed the management of surgical patients with endocrine tumors.
- A significant percentage of patients with endocrine tumors have an underlying inherited disease.
Purpose of the Study:
- To evaluate the impact of genetic screening on patients with endocrine tumors.
- To determine the prevalence of inherited endocrine diseases in surgical patients with endocrine tumors.
Main Methods:
- Analysis of over 1800 patients operated on between 1986 and 1997 with endocrine tumors and suspected inherited disease.
- Genetic testing for RET proto-oncogene and MEN-I gene.
Main Results:
- 6.1% to 7.3% of patients had familial diseases including familial medullary thyroid cancer (MTC), MEN-IIa, MEN-IIb, or MEN-I.
- Genetic testing is recommended for MTC patients (RET proto-oncogene) and suspected MEN-I patients.
Conclusions:
- Early diagnosis through genetic testing improves survival and decreases morbidity in patients with inherited endocrine tumors.
- Genetic screening is crucial for identifying patients with familial endocrine tumor syndromes, enabling timely intervention.