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A heritable predisposition to pituitary tumors

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Abstract

Pituitary tumors are prevalent in the general population, with a frequency of nearly 1 in 5. The cause of most pituitary tumors remains unknown, although a genetic contribution is recognized for some. We analyzed the Utah Population Data Base (UPDB), a resource combining a computerized genealogy of the Utah population with a statewide tumor registry, to investigate familial clustering of pituitary tumors. We analyzed the genetic relationships among 741 individuals diagnosed with benign or malignant pituitary tumors who had Utah genealogy data. To test for evidence of genetic contribution to predisposition, we compared average relatedness between all pairs of individuals with pituitary tumors with the expected relatedness in this population. We also estimated relative risks (RRs) for pituitary tumors in close and distant relatives of cases by comparing observed and expected numbers of cases among relatives. Relative risks for first- and third-degree relatives were significantly elevated (RR = 2.83 and 1.63, respectively), while relative risk for second-degree relatives was not significantly different from 1.0 (RR = 0.83). The average pairwise relatedness of pituitary tumor cases was significantly higher than expected, even when close relationships were ignored. The significantly elevated risks to relatives as well as the significant excess distant relatedness observed in cases provide strong support for a genetic contribution to predisposition to pituitary tumors. Multiple high-risk pedigrees can be identified in the UPDB, and study of such pedigrees might allow identification of the gene(s) responsible for our observations. Recognizing genetic contribution to the disease may also help with counseling family members of affected individuals.

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Acknowledgments

Analysis was supported by National Library of Medicine grant LM009331 (to Lisa Cannon-Albright). Research was supported by the Utah Cancer Registry, which is funded by contract N01-PC-35141 from the National Cancer Institute’s SEER program with additional support from the Utah State Department of Health and the University of Utah. Partial support for all data sets within the UPDB was provided by the University of Utah Huntsman Cancer Institute. We thank Kristin Kraus, M.Sc., Medical Editor for the Department of Neurosurgery, University of Utah, for providing superb editorial assistance. The authors have no conflicts of interest to report.

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  1. Department of Neurosurgery, University of Utah School of Medicine, 175 North Medical Drive East, Salt Lake City, UT, 84132, USA

    William T. Couldwell

  2. Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Lisa Cannon-Albright

  3. George E. Wahlen Department of Veteran Affairs Medical Center, Salt Lake City, UT, USA

    Lisa Cannon-Albright

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  1. William T. Couldwell
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Correspondence to William T. Couldwell.

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Couldwell, W.T., Cannon-Albright, L. A heritable predisposition to pituitary tumors. Pituitary 13, 130–137 (2010). https://doi.org/10.1007/s11102-009-0212-0

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