title: PTCH1 mutation and local aggressiveness of odontogenic keratocystic tumors in children: is there a relationship?
abstract: Keratocystic odontogenic tumors (KCOTs) are locally aggressive jaw lesions that may be related to PTCH1 mutations in isolation or in association with nevoid basal cell carcinoma syndrome. We sought to clarify the role of PTCH1 mutation in KCOT aggressiveness. We assessed cyst pathological characteristics, Ki-67 immunostaining, and somatic and germinal PTCH1 mutation in 16 KCOTs from 10 unrelated patients. Ten PTCH1 mutations were identified in 16 tumors. All tumors with PTCH1 mutations presented the criteria of pathological aggressiveness. We also noted the presence of a chorionic epithelial structure apparently acting as a secondary germinal center in these same tumors. Ki-67 immunostaining was not associated with PTCH1 mutation. KCOTs harboring the mutation display a chorionic epithelial structure that acts as a secondary germinal center. Genetic and microenvironmental factors might interact to propel tumor development.
authors: APHP, Hôpital Necker-Enfants Malades, Service de Chirurgiemaxillo-Faciale, Paris F75015, France. natacha.kadlub@gmail.com
authors: Natacha
authors: N
authors: Kadlub
authors: Amélie
authors: A
authors: Coudert
authors: Marie-Eve
authors: ME
authors: Gatibelza
authors: Nawal
authors: N
authors: El Houmami
authors: Nadem
authors: N
authors: Soufir
authors: Blandine
authors: B
authors: Ruhin-Poncet
authors: Aurore Coulomb
authors: AC
authors: L'hermine
authors: Ariane
authors: A
authors: Berdal
authors: Marie-Paule
authors: MP
authors: Vazquez
authors: Vianney
authors: V
authors: Descroix
authors: Arnaud
authors: A
authors: Picard
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009807:Odontogenic Cysts / Q000235:genetics / Q000473:pathology; D009808:Odontogenic Tumors / Q000235:genetics* / Q000473:pathology*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface