Study identifies genetic mutations associated with tumor of adrenal gland

December 14, 2010

Analysis has identified variations of a gene that are associated with a type of tumor that forms within the adrenal gland, according a study in the December 15 issue of JAMA. The age group in which these variations were found are frequently excluded from genetic screening models for this type of tumor.

Pheochromocytomas and paragangliomas are types of tumors. Pheochromocytomas form in the (gland located above the kidney) causing it to make too much adrenaline. Pheochromocytomas can cause , pounding headaches, heart palpitations, flushing of the face, nausea, and vomiting. Paragangliomas are rare, usually benign tumors that may develop at various body sites. Despite a broad spectrum of for these tumors, the molecular basis for the majority of pheochromocytomas and paragangliomas, including most of the sporadic and rare familial cases, remains unknown, according to background information in the article. "These observations support the existence of additional pheochromocytoma susceptibility genes, which may account for some of the genetically undefined cases," the authors write.

Li Yao, Ph.D., of the University of Texas Health Science Center at San Antonio, and colleagues conducted a study to determine the prevalence in pheochromocytomas and paragangliomas of mutations in the gene FP/TMEM127, a recently identified pheochromocytoma susceptibility gene. The researchers sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010.

The researchers detected a total of 44 distinct FP/TMEM127 variants in 990 samples from pheochromocytoma or paraganglioma patients. "Of these, 19 mutations found in 20 patients were considered of potential pathogenic significance. Thirteen of these variants were novel changes, while the remainder had been previously reported," the authors write. Mutations were detected only in patients with tumors of adrenal localization (pheochromocytomas) but not with paragangliomas.

The average age at development of FP/TMEM127-mutated tumors was 42.8 years and the median (midpoint) age was 41.5 years, with this age at onset similar to the average age of non-mutated cases in this series, 43.2 years (median, 45 years) and to the reported average diagnostic age for sporadic pheochromocytomas (47 years). The most common presentation was that of a single benign adrenal tumor in patients older than 40 years. Malignancy was seen in 1 mutation carrier (5 percent).

"Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from algorithms," the authors write. "Future studies should determine quantitative intracellular effects of individual variants."

Explore further: Genetic mutations identified for type of gastric cancer

More information: JAMA. 2010;304[23]:2611-2619.

Related Stories

Genetic mutations identified for type of gastric cancer

June 3, 2007

Researchers have identified novel genetic mutations that are linked to hereditary diffuse gastric cancer, with these mutations being due to both independent mutational events and common ancestry, according to a study in the ...

Gene may lead to early onset of brain tumor

January 26, 2009

People with a particular gene variant may be more likely to develop brain tumors, and at an earlier age, than people without the gene, according to a study published in the January 27, 2009, print issue of Neurology, the ...

Study shows that mutations in one gene cause many cancers

March 29, 2010

An important gene that normally protects the body against cancer can itself cause a variety of cancers depending on the specific mutation that damages it, according to a new study by investigators at the Ohio State University ...

Recommended for you

How the finch changes its tune

August 3, 2015

Like top musicians, songbirds train from a young age to weed out errors and trim variability from their songs, ultimately becoming consistent and reliable performers. But as with human musicians, even the best are not machines. ...

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

(PhysOrg.com) -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.