PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas

Human Pathology
Christian HafnerThomas Vogt


Trichoblastomas are rare, benign tumors of the appendix in human skin. The histopathology comprises elements of basal cell carcinoma and trichoepithelioma with a variable degree of follicular differentiation. Both basal cell carcinoma and trichoepithelioma reveal alterations of PTCH, the human homolog of the Drosophila segment polarity patched gene. Furthermore, heterozygous PTCH knockout mice develop trichoblastoma-like tumors. This suggests an involvement of the PTCH gene in the pathogenesis of human trichoblastomas. However, trichoblastomas arising in nevus sebaceus did not show loss of heterozygosity at the PTCH locus (9q22.3) in a previous study. Sequencing of the PTCH gene and analysis of sporadic human trichoblastomas have not been performed yet. We therefore screened 10 sporadic trichoblastomas and 1 trichoblastoma arising within a nevus sebaceus for PTCH mutations. After microdissection of the tumors, single-strand conformational polymorphism (SSCP)/heteroduplex analysis of exons 2 to 23 of PTCH was performed, and polymerase chain reaction products with aberrant band patterns were sequenced. One trichoblastoma revealed a silent mutation at codon 562 in exon 12. Another trichoblastoma showed a somatic C > T single nucle...Continue Reading


Jan 31, 1998·The American Journal of Dermatopathology·A B Ackerman
Mar 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·M NilssonR Toftgård
May 18, 2000·Archives of Dermatology·D MattR Böni
Jun 30, 2000·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·S RegauerS Mannweiler
Apr 4, 2001·The American Journal of Dermatopathology·M Tronnier
May 22, 2001·The British Journal of Dermatology·S N ChangW H Park
Jan 22, 2002·The American Journal of Dermatopathology·Hjalmar KurzenWolfgang Hartschuh
Apr 23, 2002·The British Journal of Dermatology·J P Lacour
Jan 8, 2003·International Journal of Cancer. Journal International Du Cancer·Jenny Chang-ClaudeHeidi Hahn
Nov 25, 2003·The Journal of Investigative Dermatology·Guofang HuJülide Tok Celebi
Jun 10, 2004·The Journal of Dermatology·Toshihiro TakaiMasato Ueda
Jan 20, 2005·The British Journal of Dermatology·J ReifenbergerG Reifenberger
Jan 29, 2005·The American Journal of Dermatopathology·Dong Kee YuKwang Hyun Cho
Jan 29, 2005·The American Journal of Dermatopathology·Tilman SchulzPeter H Wünsch
Mar 31, 2005·The American Journal of Dermatopathology·Leonid IziksonArtur Zembowicz
May 13, 2005·The British Journal of Dermatology·A AsplundF Pontén


Apr 19, 2007·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·J Reifenberger

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