Nevoid basal cell carcinoma syndrome (NBCS, Gorlin syndrome) is a rare autosomal-dominant entity and the most common hereditary form of cancer (BCC). Aberrant activation Sonic hedgehog pathway underlies BCC onset, germline mutations its components, mostly tumor suppressor PTCH1, are causing NBCS. Basaloid lesions from pediatric patients with NBCS differ adult BCCs, both clinically histologicall...

Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. G...

INTRODUCTION Merkel cell carcinoma is a neuroendocrine malignancy. Suppressor of fused (SUFU) is a tumor suppressor oncogene that participates in the Hedgehog (Hh) signaling pathway. The aim of the study was to describe a patient whose Merkel cell carcinoma demonstrated a SUFU genomic alteration. CASE STUDY The Hh signaling pathway is involved in the pathogenesis of several tumors, including ...

Patients with nevoid basal cell carcinoma syndrome carry germline mutations in the tumor suppressor gene Patched 1 (PTCH1) and are predisposed to develop basal cell carcinoma (BCC), medulloblastoma (MB), and rhabdomyosarcoma (RMS). These tumors are also present in the murine model for Ptch1 deficiency, the Ptch1neo67/+ mouse. Previous studies, including those from our laboratory, have shown tha...

This review will highlight some current areas of difficulty or controversy in diagnosis and treatment of nevoid basal cell carcinoma syndrome (NBCCS). The odontogenic keratocyst (OKC) has significant growth capacity and recurrence potential and is occasionally indicative of the NBCCS. The objective of this study is to clarify the causes of the recurrence of OKC in NBCCS. A literature search was...

The aim of the present study is to address whether the molecular pathogenesis is identical among multiple basal cell carcinomas (BCCs) present in the same nevoid basal cell carcinoma syndrome (NBCCS) patient. Patient 1 is a 61-year-old (yo) Japanese female whose clinical characteristics and findings of a genetic analysis of PTCH1 have been previously described. Patient 2 is patient 1's 64-yo si...