A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome

被引：2

作者：

Ozcan, Gozde ^{[1
]}

Balta, Burhan ^{[3
]}

Sekerci, Ahmet Ercan ^{[1
]}

Etoz, Osman A. ^{[2
]}

Martinuzzi, Claudia ^{[5
]}

Kara, Ozlem ^{[4
]}

Pastorino, Lorenza ^{[5
]}

Kocoglu, Fatma ^{[1
]}

Ulker, Omer ^{[1
]}

Erdogan, Murat ^{[3
]}

机构：

[1] Erciyes Univ, Dept Oral & Maxillofacial Radiol, Fac Dent, TR-38039 Kayseri, Turkey

[2] Erciyes Univ, Dept Oral & Maxillofacial Surg, Fac Dent, Kayseri, Turkey

[3] Kayseri Educ & Res Hosp, Dept Med Genet, Kayseri, Turkey

[4] Erciyes Univ, Fac Med, Dept Pathol, Kayseri, Turkey

[5] IRCCS Azienda Osped Univ San Martino, IST Ist Nazl Ric Canc, Genet Rare Canc, Genoa, Italy

来源：

INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY | 2016年 / 59卷 / 03期

关键词：

Gorlin-Goltz syndrome; nevoid basal cell nevus syndrome; odontogenic keratocyst; pediatric; PTCH1; gene; CELL CARCINOMA SYNDROME;

D O I：

10.4103/0377-4929.188148

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

引用

页码：335 / 338

页数：4

共 18 条

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