A case of nevoid basal cell carcinoma syndrome with a splicing mutation in the <i>PTCH1</i>gene

DOI Web Site 14 References
  • KAWASE-KOGA Yoko
    Department of Oral and Maxillofacial Surgery， Dentistryand Orthodontics， University of Tokyo Hospital
  • FUJII Katsunori
    Department of Pediatrics, Chiba University Graduate School of Medicine
  • SAIJO Hideto
    Department of Oral and Maxillofacial Surgery， Dentistryand Orthodontics， University of Tokyo Hospital
  • HIRAMATSU Nobuaki
    Department of Oral and Maxillofacial Surgery， Dentistryand Orthodontics， University of Tokyo Hospital
  • MORI Yoshiyuki
    Department of Oral and Maxillofacial Surgery， Dentistryand Orthodontics， University of Tokyo Hospital
  • TAKATO Tsuyoshi
    Department of Oral and Maxillofacial Surgery， Dentistryand Orthodontics， University of Tokyo Hospital

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Other Title
  • <i>PTCH1</i>遺伝子のスプライシング変異を認めた母斑基底細胞癌症候群の1例
  • PTCH1遺伝子のスプライシング変異を認めた母斑基底細胞癌症候群の1例
  • PTCH1 イデンシ ノ スプライシング ヘンイ オ ミトメタ ハハ ハン キテイ サイボウガン ショウコウグン ノ 1レイ
  • A case of nevoid basal cell carcinoma syndrome with a splicing mutation in the PTCH1gene

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Abstract

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome or Basal Cell Nevus Syndrome (BCNS), is an autosomal dominant disorder characterized by developmental defects, including palmar or plantar pits, bifid ribs, or calcification of the falx cerebri, and tumorigenesis, such as basal cell carcinoma (BCC), medulloblastoma, or keratocystic odontogenic tumor (KCOT). Human patched-1 (PTCH1) has been identified as the causative gene of NBCCS.<br>A 7-year-old boy was referred to our hospital in July 2010 by a dental clinic because of radiolucent findings on the right side of the maxilla and the left side of the mandible. NBCCS was diagnosed on the basis of our clinical findings and the diagnostic criteria proposed by Kimonis et al. Fenestration surgery of 2 tumors in the maxilla and mandible was performed with the patient under general anesthesia. Histopathological findings indicated that the 2 tumors were consistent with a diagnosis of KCOTs. We subsequently identified a PTCH1 germline mutation of c.2250+2t>a, leading to abnormal splicing in PTCH1. This splicing mutation was novel, and premature termination of PTCH1 as demonstrated by reverse-transcriptase polymerase chain reaction apparently caused the NBCCS manifestations seen in this patient. There has been no complications after 1 year of postoperative follow-up.

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