A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer
A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer
复制标题
第五种癌症发展后诊断出的没有典型身体特征的戈林-戈尔茨综合症病例
DOI：
10.1097/mph.0000000000002436
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Ashida A.
中科院分区：
文献类型：
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作者：
Katayama D;Inoue A;Kayatani R;Urabe K;Suzuki R;Takitani K;Yoshida M;Kato M;Ashida A.
我们报告一位19岁前发展成髓母细胞瘤、骨肉瘤、骨髓增生异常综合症、基底细胞癌和牙源性角化囊肿的患者，患有戈林-戈尔茨综合征(GGS)。他没有已知的家族史，也没有GGS的特征。通过对癌症易感基因的全外显子测序，在口腔粘膜、基底细胞癌和正常皮肤中发现了ptch1基因的移码突变。对于有癌症易感性背景的儿科癌症患者来说，制定关于二次癌症发展的治疗策略是重要的。综合多基因分析方面的进展预计将有助于制定这一战略。
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.