title: Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors.
abstract: Although patients with neurofibromatosis (NF) have an increased incidence of tumors, there is only one study that suggests that NF1 patients may have an increased risk for epithelial malignancies. We present a patient with known NF1 who had developed multiple epithelial tumors since early in his life. All but one of these tumors were morphologically most consistent with trichoepitheliomas. Loss of heterozygosity (LOH) for Patched 1 gene (PTCH) was demonstrated within two of the trichoepitheloma-like tumors and one tumor diagnosed as basal cell carcinoma, and the patient was show to have a PTCH gene deletion. To our knowledge, a patient presenting with both NF1 and multiple trichoepitheliomas (MTE) has not previously been reported. The dysregulation in cellular proliferation and signaling induced by decreased NF1 along with the PTCH gene mutation may explain the pattern of immunohistochemical staining within these tumors, and the rare association of NF1 with epithelial neoplasms.
authors.affiliation: St Vincents Hospital, Birmingham, AL, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Jacobson
authors.forename: Catherine
authors.initials: C
authors.lastname: Toms
authors.forename: Conway
authors.initials: C
authors.lastname: Huang
authors.forename: Henry
authors.initials: H
authors.lastname: Skelton
authors.forename: Kathleen
authors.initials: K
authors.lastname: Smith
mesh_terms: D000328:Adult; D018952:Antigens, CD34 / Q000032:analysis; D002280:Basal Cell Carcinoma / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D006801:Humans; D007150:Immunohistochemistry; D019394:Ki-67 Antigen / Q000032:analysis; D019656:Loss of Heterozygosity; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D009456:Neurofibromatosis 1 / Q000150:complications*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D018809:Proliferating Cell Nuclear Antigen / Q000032:analysis; D011956:Receptors, Cell Surface / Q000235:genetics*; D009418:S100 Proteins / Q000032:analysis; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000032:analysis
chemical_list: D018952:Antigens, CD34; D019394:Ki-67 Antigen; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D018809:Proliferating Cell Nuclear Antigen; D011956:Receptors, Cell Surface; D009418:S100 Proteins; D016159:Tumor Suppressor Protein p53