Dysregulation of hedgehog signaling and tumorigenesis

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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.