Genetic mutation plays major role in adren...( COLUMBUS Ohio New research sugges...)

COLUMBUS, Ohio New research suggests inherited genetic mutations play a larger role than previously thought in the development of a rare form of adrenal cancer - findings that offer important implications for clinical practice management in the future.

Pheochromocytomas are unusual cancers of the adrenal gland that are popularly referred to as 10 percent tumors because it is widely believed they have several characteristics that show up about 10 percent of the time. For example, only about 10 percent of pheochromocytomas are malignant. About 10 percent of them occur in children. In roughly 10 percent of cases, the tumors will appear in both adrenal glands. Ten percent of pheochromocytoma patients will have a family member who has the same type of tumor, and, in 10 percent of patients, pheochromocytomas are hereditary, occurring in conjunction with unusual endocrine disease syndromes.

Not so fast, says Dr. Charis Eng, director of the Clinical Cancer Genetics Program at The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. Eng, leading a large team of researchers, just completed a study of 271 patients with pheochromocytomas or related tumors called paragangliomas, and concluded that the inherited fraction of pheochromocytoma patients may be a lot closer to 25-30 percent than 10 percent.

The findings appear in the May 9 issue of the New England Journal of Medicine.

The study involved painstaking detective work over 6 years by an international team of investigators utilizing tumor registries in Poland and Germany.

Members of the research team reviewed each patients medical record for a complete understanding of the clinical data. They then obtained blood samples from each patient, and using two sophisticated systems of genetic identification - analysis of single strand conformation polymorphisms (SSCP) and direct sequencing pinpointed mutations in one o
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Contact: Michelle Gailiun
gailiun.1@osu.edu
614-293-6054
Ohio State University Medical Center
8-May-2002