Trilateral Retinoblastoma in a Patient With Peutz–Jeghers Syndrome
Article first published online: 5 MAR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 1096–1100, May 2013
How to Cite
2013. Trilateral retinoblastoma in a patient with Peutz–Jeghers syndrome. Am J Med Genet Part A 161A:1096–1100., , , , , , , , .
- Issue published online: 22 APR 2013
- Article first published online: 5 MAR 2013
- Manuscript Accepted: 11 OCT 2012
- Manuscript Received: 31 MAR 2012
- Peutz–Jeghers syndrome;
Germline loss of function mutations in tumor suppressor genes RB1 and LKB1/STK11 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 LKB1/STK11 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 RB1 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 RB1 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 LKB1/STK11 pathway. © 2013 Wiley Periodicals, Inc.