Cheng Yi-Shing Lisa, Liang Hui, Wright John, Teenier Tom
Diagnostic Sciences, Texas A&M University-Baylor College of Dentistry, 3302 Gaston Ave, Dallas, TX, 75246, USA,
Head Neck Pathol. 2015 Mar;9(1):153-7. doi: 10.1007/s12105-014-0545-5. Epub 2014 Apr 16.
The purpose of this report is to document the clinical, radiographic, pathological and molecular findings of the first case of multiple orthokeratinized odontogenic cysts (OOCs). Multiple odontogenic keratocysts are one of the major features of nevoid basal cell carcinoma syndrome (NBCCS), and loss of heterozygosity in the PTCH gene, the culprit gene for NBCCS, has recently been found in sporadic OOC cases. Therefore, in this presenting case, we also investigated the possibility that this patient might also have NBCCS, by comparing the available clinical information and the molecular findings of this case to the diagnostic criteria for NBCCS (as proposed by the First International Colloquium on NBCCS in 2011). However, this patient with multiple OOCs showed no evidence of having NBCCS. This conclusion supports the findings from previous case series based on sporadic cases that OOC does not appear to be associated with NBCCS.
本报告旨在记录首例多发性正角化型牙源性囊肿（OOC）的临床、影像学、病理及分子学表现。多发性牙源性角化囊肿是痣样基底细胞癌综合征（NBCCS）的主要特征之一，最近在散发性OOC病例中发现了NBCCS的致病基因PTCH基因的杂合性缺失。因此，在本病例中，我们还通过将该病例的现有临床信息和分子学表现与NBCCS的诊断标准（2011年第一届NBCCS国际研讨会提出）进行比较，来研究该患者是否也患有NBCCS的可能性。然而，这位患有多发性OOC的患者没有NBCCS的迹象。这一结论支持了先前基于散发性病例的病例系列研究结果，即OOC似乎与NBCCS无关。
