TY - JOUR
T1 - Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome
AU - Ponti, Giovanni
AU - Pollio, Annamaria
AU - Mignogna, Michele Davide
AU - Pellacani, Giovanni
AU - Pastorino, Lorenza
AU - Bianchi-Scarrà, Giovanna
AU - Di Gregorio, Carmela
AU - Magnoni, Cristina
AU - Azzoni, Paola
AU - Greco, Maurizio
AU - Seidenari, Stefania
PY - 2012/4
Y1 - 2012/4
N2 - Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a very wide spectrum of clinical signs and symptoms. Here, we report an unusual case of NBCCS in a 38-year-old man with an early onset of clinical signs and symptoms and an associated unicystic ameloblastoma, histopathologically showing basaloid differentiation and intraluminal growth. The odontogenic tumor was surgically enucleated and recurred at the follow-up at 14 months. The proband and his child were identified as gene carriers of the novel K729M PTCH1 missense mutation; other first- and second-degree relatives presented clinical features of NBCCS. Only five other cases of association between ameloblastoma and NBCCS have been reported so far, suggesting that PTCH1 missense mutation might take part in the pathogenesis of keratocystic odontogenic tumors (KCOTs) as well as ameloblastomas.
AB - Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a very wide spectrum of clinical signs and symptoms. Here, we report an unusual case of NBCCS in a 38-year-old man with an early onset of clinical signs and symptoms and an associated unicystic ameloblastoma, histopathologically showing basaloid differentiation and intraluminal growth. The odontogenic tumor was surgically enucleated and recurred at the follow-up at 14 months. The proband and his child were identified as gene carriers of the novel K729M PTCH1 missense mutation; other first- and second-degree relatives presented clinical features of NBCCS. Only five other cases of association between ameloblastoma and NBCCS have been reported so far, suggesting that PTCH1 missense mutation might take part in the pathogenesis of keratocystic odontogenic tumors (KCOTs) as well as ameloblastomas.
KW - Gorlin syndrome
KW - Keratocystic odontogenic tumors
KW - Nevoid basal cell carcinoma syndrome
KW - PTCH1
KW - Unicystic ameloblastoma
UR - http://www.scopus.com/inward/record.url?scp=84862731043&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84862731043&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2012.01.012
DO - 10.1016/j.cancergen.2012.01.012
M3 - Article
C2 - 22559979
AN - SCOPUS:84862731043
VL - 205
SP - 177
EP - 181
JO - Cancer genetics
JF - Cancer genetics
SN - 2210-7762
IS - 4
ER -