Dysregulation of hedgehog signaling and tumorigenesis

为了探讨NBCCS患者肿瘤形成的分子机制，我们分析了10例KCOT、2例脑膜瘤和1例髓母细胞瘤和卵巢平滑肌瘤的基因突变。因此，脑膜瘤、髓母细胞瘤和卵巢平滑肌瘤各有1例存在致病性体细胞突变(第2次命中)，而KCOT样本中只有1例可能存在致病突变。因此，KCOT的发生机制与其他肿瘤不同。

In order to investigate the molecular mechanism of tumor formation in NBCCS patients, we analyzed gene mutations in 10 cases of KCOT, 2 cases of meningioma and 1 case each of medulloblastoma and ovarian leiomyoma. As a result, 1 sample each of meningioma, medulloblastoma and ovarian leiomyoma had a pathogenic somatic mutation (2nd hit), whereas only one out of ten KCOT samples carried a possible pathogenic mutation.Therefore, KCOT is suggested to arise through a mechanism distinct from that for other tumors.