PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review

PLoS One. 2013 Oct 21;8(10):e77305. doi: 10.1371/journal.pone.0077305. eCollection 2013.


Background: The keratocystic odontogenic tumor (KCOT) is a locally aggressive cystic jaw lesion that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs. In this study, we analyzed and compared the distribution pattern of PTCH1 mutations in patients with sporadic and NBCCS-associated KCOTs.

Methods: We detected PTCH1 mutations in 14 patients with NBCCS-associated KCOTs and 29 patients with sporadic KCOTs by direct sequencing. In addition, five electronic databases were searched for studies detecting PTCH1 mutations in individuals with NBCCS-associated or sporadic KCOTs, published between January 1996 and June 2013 in English language.

Results: We identified 15 mutations in 11 cases with NBCCS-associated KCOTs and 19 mutations in 13 cases with sporadic KCOTs. In addition, a total of 204 PTCH1 mutations (187 mutations from 210 cases with NBCCS-associated and 17 mutations from 57 cases with sporadic KCOTs) were compiled from 78 published papers.

Conclusions: Our study indicates that mutations in transmembrane 2 (TM2) are closely related to the development of sporadic KCOTs. Moreover, for the early diagnosis of NBCCS, a genetic analysis of the PTCH1 gene should be included in the new diagnostic criteria.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Adolescent
  • Adult
  • Asian Continental Ancestry Group
  • Basal Cell Nevus Syndrome / ethnology
  • Basal Cell Nevus Syndrome / genetics*
  • Basal Cell Nevus Syndrome / pathology
  • Child
  • Databases, Bibliographic
  • Exons
  • Female
  • Humans
  • Introns
  • Male
  • Mutation*
  • Odontogenic Tumors / ethnology
  • Odontogenic Tumors / genetics*
  • Odontogenic Tumors / pathology
  • Patched Receptors
  • Patched-1 Receptor
  • Protein Structure, Tertiary
  • Receptors, Cell Surface / genetics*
  • Sequence Analysis, DNA


  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface

Grant support

This work was supported the National Natural Science Foundation of China (grant numbers 81030018, 30872900, 30901680) and the Doctoral Fund of Ministry of Education of China (grant number 20120001110043). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.