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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Zollinger-Ellison syndrome


Other Names for this Disease
  • Gastrinoma
  • Pancreatic ulcerogenic tumor syndrome
  • Z E syndrome
  • ZES
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Tests & Diagnosis


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Is genetic testing available for Zollinger-Ellison syndrome?

There is not a genetic test specifically for Zollinger-Ellison syndrome (ZES), which usually occurs sporadically as a result of a tumor that secretes gastrin (a gastrinoma). However, genetic testing is available for multiple endocrine neoplasia type 1 (MEN1), which is a genetic condition present in about 25-30% of people with ZES.

People who have a single MEN1-related tumor (such as one gastrinoma) and no family history of multiple endocrine neoplasia type 1 are rarely born with MEN1 gene mutations. Generally, the chance of detecting a MEN1 gene mutation increases in people with more main tumors (parathyroid, pancreatic, and pituitary).[1]

Genetic testing is most informative for asymptomatic family members when the affected family member has genetic testing first. The person with symptoms of MEN1 typically first has sequencing analysis of the gene to look for changes; if no mutation is found, they may have duplication/deletion analysis (a test that detects extra or missing parts of the gene).[1]

Predictive testing for at-risk, asymptomatic, adult family members requires first finding the disease-causing mutation in the affected family member. It is important to note that in people with a MEN1 gene mutation, the chance to develop symptoms by age 20 is over 50%. The chance to develop symptoms by age 40 is 95%.[1] Therefore, as a person ages and does not have signs or symptoms, the chance to have a MEN1 gene mutation decreases significantly.

The Genetic Testing Registry (GTR) provides information about the genetic tests for multiple endocrine neoplasia type 1. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/14/2014

References
  1. Francesca Giusti, Francesca Marini, and Maria Luisa Brandi. Multiple Endocrine Neoplasia Type 1. GeneReviews. September 6, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1538/. Accessed 1/14/2014.