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Case Reports
. 2022 May 1;44(4):e869-e871.
doi: 10.1097/MPH.0000000000002436. Epub 2022 Mar 1.

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer

Daisuke Katayama  1 , Akiko Inoue  1 , Rishu Kayatani  1 , Keisuke Urabe  1 , Ryo Suzuki  1 , Kimitaka Takitani  1 , Masanori Yoshida  2 , Motohiro Kato  2   3 , Akira Ashida  1
Affiliations
Case Reports

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer

Daisuke Katayama et al. J Pediatr Hematol Oncol. .

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.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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