A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

Background Nevoid basal cell carcinoma syndrome （NBCCS） is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene （PTCH）, considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study. Methods Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing. Results A new mutation of 3 bp （GAT deletion） was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain （SSD）. This deletion was not found in any unaffected members of this family nor in 200 control samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

Treatment of Nevoid Basal Cell Carcinoma Syndrome by Surgery Combined With ALA-PDT: A Case Report

Introduction:Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental malformations and carcinogenic activity.Multi-systemic anomalies may occur in this syndrome,such as odentogenic keratocysts of the mandible and postnatal tumors,especially multiple basal cell carcinoma.Case presentation:A 60 year old man presented with systemic plaques and nodules for more than 30 years.Cutaneous examination revealed that invasive erythema and black papules scattered on the face,trunk and limbs.He underwent extended surgical excision of lesions at multiple sites.No new lesions were found in the treated areas during a 3-year follow-up.Topical 5-aminolevulinic acid-mediated photodynamic therapy(ALA-PDT)was given as a palliative treatment for ulcerated tumors on the right lower eyelid and bleeding of the right temporal lesion.After application of ALA-PDT,the ulcers almost healed and the recurring hemorrhage ceased.Discussion:The management of multiple tumors in patients with nevoid basal cell carcinoma syndrome is extremely difficult,especially in the face.Surgical excision is the standard method,but the procedure can be applied in limited sites and may result in significant disfigurement and the difficulty of wound recovery.PDT can play a significant role in combination therapy for tumors that are extremely difficult to remove completely by surgical excision.Conclusion:We present a rare case manifested as multiple basal cell carcinoma and palmar pits who treated by surgery combined with topical 5-aminolevulinic acid-mediated photodynamic therapy.The combined therapy plays a complementary role in the treatment of nevoid basal cell carcinoma syndrome.

Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors

Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.