Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors / 国际口腔科学杂志·英文版

ABSTRACT

<p><b>AIM</b>To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.</p><p><b>METHODOLOGY</b>Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.</p><p><b>RESULTS</b>Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).</p><p><b>CONCLUSION</b>Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.</p>