National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Prolactinoma

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Is a prolactinoma a genetic condition?
Most prolactinomas are thought to develop by chance without any known association to a genetic condition.[1]  However, up to 2.6% of individuals with a prolactinoma and no other symptoms may have a mutation in the MEN1 gene, which causes a genetic condition known as multiple endocrine neoplasia type 1 (MEN1).  The chance of a prolactinoma being associated with MEN1 increases if the tumor is large or affects surrounding tissues (is invasive), or if the individual develops multiple tumors, especially in other glands such as the parathyroids or pancreas.[1]  Prolactinomas have also been associated with another, very rare genetic condition called AIP-Related Familial Isolated Pituitary Adenomas, caused by mutations in the AIP gene; only 50 families with this condition have been described in the medical literature.[2][3]
Last updated: 4/6/2015

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  1. Trouillas J, Labat-Moleur F, Sturm N, Kujas M, Heymann MF, Figarella-Branger D, Patey M, Mazucca M, Decullier E, Vergès B, Chabre O, Calender A; Groupe d'études des Tumeurs Endocrines. Pituitary tumors and hyperplasia in multiple endocrine neoplasia type 1 syndrome (MEN1): a case-control study in a series of 77 patients versus 2509 non-MEN1 patients. American Journal of Surgical Pathology. 2008; 32(4):534-543. http://www.ncbi.nlm.nih.gov/pubmed/18300794. Accessed 4/5/2015.
  2. Agarwal SK, Ozawa A, Mateo CM, Marx SJ. The MEN1 gene and pituitary tumours. Hormone Research. 2009; 71(Suppl. 2):131-138. http://www.ncbi.nlm.nih.gov/pubmed/19407509. Accessed 4/5/2015.
  3. Korbonits M and Kumar AV. AIP-Related Familial Isolated Pituitary Adenoma. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK97965/. Accessed 4/6/2015.
  4. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ. Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism. 2001; 86(12):5658-5671. http://www.ncbi.nlm.nih.gov/pubmed/11739416. Accessed 4/5/2015.