A case of Gorlin--Goltz syndrome without the characteristic physical
features that was diagnosed after the development of a fifth cancer
Abstract
We present a case of Gorlin–Goltz syndrome (GGS) in a patient who
developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal
cell carcinoma, and odontogenic keratocyst by the age of 19 years. He
had no known family history and no characteristic physical features of
GGS. A frameshift mutation in the PTCH1 gene was found in the oral
mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal
skin by whole-exome sequencing of cancer susceptibility genes. Setting a
therapeutic strategy with regard to second cancer development is
important for pediatric cancer patients who have a background of cancer
predisposition. Advances in comprehensive multigenetic analysis are
anticipated to aid in developing such a strategy.