Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka.
Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development Research Institute.
J Pediatr Hematol Oncol. 2022 May 1;44(4):e869-e871. doi: 10.1097/MPH.0000000000002436. Epub 2022 Mar 1.
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.
我们报告了一例 Gorlin-Goltz 综合征（GGS）病例，患者在 19 岁时已发展为髓母细胞瘤、骨肉瘤、骨髓增生异常综合征、基底细胞癌和牙源性角化囊肿。他无已知家族史，也无 GGS 的典型体貌特征。通过对癌症易感基因进行全外显子测序，在口腔黏膜、基底细胞癌和正常皮肤中发现了 PTCH1 基因的移码突变，呈低频镶嵌现象。对于有癌症易感性背景的儿科癌症患者，制定针对第二癌症发展的治疗策略非常重要。预计全面多基因分析的进展将有助于制定这种策略。
