Lench N J, High A S, Markham A F, Hume W J, Robinson P A
Division of Dental Surgery, Leeds Dental Institute, U.K.
Eur J Cancer B Oral Oncol. 1996 May;32B(3):202-6. doi: 10.1016/0964-1955(95)00053-4.
Multiple basal cell carcinomas and odontogenic keratocysts of the jaws are a feature of the inherited naevoid basal cell carcinoma syndrome (NBCCS), although both occur more commonly as single, sporadic cases. The NBCCS gene has been mapped to chromosome 9q22.3-q31 and loss of heterozygosity for DNA markers from this region has been observed in familial and sporadic basal cell carcinomas. Based on these observations, we undertook a pilot study to determine if a similar pattern of chromosome loss occurs in odontogenic keratocysts. DNA extracted from microdissected odontogenic keratocyst epithelium was examined for loss of heterozygosity for six polymorphic DNA markers mapping to human chromosome 9q22.3-q31. Allelotype loss was detected in epithelium from three, single, sporadic odontogenic keratocysts. These results implicate homozygous inactivation of the NBCCS gene in the initiation and progression of the odontogenic keratocyst.
多发性基底细胞癌和颌骨牙源性角化囊肿是遗传性痣样基底细胞癌综合征（NBCCS）的特征，尽管这两种疾病更常见的是单发的散发病例。NBCCS基因已被定位到9号染色体的q22.3-q31区域，并且在家族性和散发性基底细胞癌中均观察到该区域DNA标记的杂合性缺失。基于这些观察结果，我们进行了一项初步研究，以确定牙源性角化囊肿中是否发生类似的染色体缺失模式。对从显微切割的牙源性角化囊肿上皮中提取的DNA进行检测，以确定位于人类9号染色体q22.3-q31区域的六个多态性DNA标记的杂合性缺失情况。在三个单发的散发性牙源性角化囊肿的上皮中检测到等位基因缺失。这些结果表明NBCCS基因的纯合失活参与了牙源性角化囊肿的发生和发展。
