Trilateral Retinoblastoma in a Patient With Peutz–Jeghers Syndrome. Issue 5 (5th March 2013)

• Record Type: Journal Article
• Authors: Raizis, Anthony M.; Van Mater, David; Aaltonen, Lauri A.; Lohmann, Dietmar; Cheale, Michelle S.; Bickley, Vivienne M.; George, Peter M.; Zhou, Yaolin; Rosoff, Philip M.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 5(2013:May)
• Page Start: 1096
• Page End: 1100
• Publication Date: 2013-03-05
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35748
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35748-sec-0001" sec-type="section"> <p>Germline loss of function mutations in tumor suppressor genes <italic>RB1</italic> and <italic>LKB1</italic>/<italic>STK11</italic> are associated with the autosomal dominant cancer predisposing syndromes familial retinoblastoma and Peutz–Jeghers 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 <italic>LKB1</italic>/<italic>STK11</italic> gene sequence identified a germline frameshift mutation (c.107del) leading to a nonsense mutation near the N‐terminus of the protein, confirming a clinical diagnosis of Peutz–Jeghers syndrome. Extensive <italic>RB1</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 <italic>RB1</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 <italic>LKB1</italic>/<italic>STK11</italic> pathway. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>