{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:07:51Z","timestamp":1761919671279},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T00:00:00Z","timestamp":1362441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Germline loss of function mutations in tumor suppressor genes <jats:italic>RB1<\/jats:italic> and <jats:italic>LKB1<\/jats:italic>\/<jats:italic>STK11<\/jats:italic> are associated with the autosomal dominant cancer predisposing syndromes familial retinoblastoma and Peutz\u2013Jeghers syndrome (PJS), respectively. We present a rare case of a young woman with trilateral retinoblastoma diagnosed as an infant who survived and was then diagnosed with PJS as a teenager. There was no family history of either disorder. Analysis of the <jats:italic>LKB1<\/jats:italic>\/<jats:italic>STK11<\/jats:italic> gene sequence identified a germline frameshift mutation (c.107del) leading to a nonsense mutation near the N\u2010terminus of the protein, confirming a clinical diagnosis of Peutz\u2013Jeghers syndrome. Extensive <jats:italic>RB1<\/jats:italic> gene analysis failed to detect germline mutations or deletions, and immunohistochemical analysis of her ocular tumors demonstrated nuclear staining of immunoreactive pRB. This result suggests that the <jats:italic>RB1<\/jats:italic> gene is intact. We estimate the chance of trilateral retinoblastoma and PJS occurring in the same individual at approximately 1 in 134 billion live births, and we discuss the possibility that this case could be explained by a putative modifier of pRB action that is associated with the <jats:italic>LKB1<\/jats:italic>\/<jats:italic>STK11<\/jats:italic> pathway. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35748","type":"journal-article","created":{"date-parts":[[2013,3,6]],"date-time":"2013-03-06T04:30:02Z","timestamp":1362544202000},"page":"1096-1100","source":"Crossref","is-referenced-by-count":4,"title":["Trilateral Retinoblastoma in a Patient With Peutz\u2013<scp>J<\/scp>eghers Syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Anthony M.","family":"Raizis","sequence":"first","affiliation":[{"name":"Department of Molecular Pathology Canterbury Health Laboratories Christchurch New 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