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A case of Gorlin--Goltz syndrome without the characteristic physical features that was diagnosed after the development of a fifth cancer
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  • Daisuke Katayama,
  • Akiko Inoue,
  • Rishu Kayatani,
  • Keisuke Urabe,
  • Ryo Suzuki,
  • Kimitaka Takitani,
  • Masanori Yoshida,
  • Motohiro Kato,
  • Akira Ashida
Daisuke Katayama
Osaka Medical and Pharmaceutical University
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Akiko Inoue
Osaka Medical College Hospital

Corresponding Author:[email protected]

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Rishu Kayatani
Osaka Medical and Pharmaceutical University
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Keisuke Urabe
Osaka Medical and Pharmaceutical University
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Ryo Suzuki
Osaka Medical and Pharmaceutical University
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Kimitaka Takitani
Osaka Medical and Pharmaceutical University
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Masanori Yoshida
National Center for Child Health and Development
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Motohiro Kato
The University of Tokyo
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Akira Ashida
Osaka Medical and Pharmaceutical University
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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.