The sebaceous nevus : A nevus with deletions of the PTCH gene

• Published in: Cancer research (Chicago, Ill.) Vol. 59; no. 8; pp. 1834 - 1836
• Main Authors: HONG XIN, MATT, D, QIN, J.-Z, BURG, G, BÖNI, R
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Association for Cancer Research 15.04.1999
• Subjects: Biological and medical sciences; Carcinoma, Basal Cell - genetics; Chromosomes, Human, Pair 9; Dermatology; Disease Progression; Gene Deletion; Genes, Tumor Suppressor; Humans; Loss of Heterozygosity; Medical sciences; Membrane Proteins - genetics; Nevus - genetics; Patched Receptors; Patched-1 Receptor; Receptors, Cell Surface; Sebaceous Glands - pathology; Skin Neoplasms - genetics; Tumors of the skin and soft tissue. Premalignant lesions; Chromosomal aberration; Human; Skin disease; Basal cell carcinoma; Tumoral tissue; Malignant tumor; Abnormal chromosome C9; Sebaceous nevus; Loss of heterozygosity; Deletion; Abnormal chromosome; Genetics; Benign neoplasm; Tumor suppressor gene
• ISSN: 0008-5472; 1538-7445

Sebaceous nevi (SN) are congenital malformations of the skin with the potential to develop into basal cell carcinoma (BCC). To date, the molecular basis for their carcinogenic potential remains unknown. The genetic defect in BCC is known and involves the human homologue of Drosophila patched (PTCH) on chromosome 9q22.3. The objective of this study was to test whether allelic deletion of the PTCH gene could already be detected in SN. Twenty-one paraffin-embedded SN were investigated in this study. Basaloid cells in conjunction with mature sebaceous glands as well as epidermal layer apart from SN were microdissected and subjected to single-step DNA extraction. We performed the analysis with polymorphic markers at 9q22.3 (D9S15, D9S252, D9S287, and D9S303). Of the 20 informative SN, 8 (40%) exhibited loss of heterozygosity at least at one locus. Here, we provide the first evidence of the involvement of the tumor suppressor gene PTCH in SN. Whether PTCH deletion in SN is associated with progression to BCC and/or other appendageal tumors should be addressed in future studies.