Hereditary Genodermatoses with Cancer Predisposition

Abstract

Synopsis Hereditary genodermatoses with cancer predisposition are reviewed, including Nevoid Basal Cell Carcinoma Syndrome, Neurofibromatosis Types 1 and 2, Tuberous Sclerosis Complex, Xeroderma Pigmentosum, and Dyskeratosis Congenita. Hereditary melanoma is also included, though it differs from the others in several respects. The underlying genetic aberrations causing these syndromes are largely known, allowing novel treatments to be developed for some of these disorders. Early recognition and diagnosis allows for close follow-up and surveillance for associated malignancies.

Fallopian Tube Correlates of Ovarian Serous Borderline Tumors

“…Parallels can be seen to germline BRCA1 or BRCA2 mutations, reportedly associated with a significantly higher index of proliferation (and malignancy)(3,13,15), fallopian tubes from women with Li Fraumeni syndrome, which have multiple p53 signatures (24), and other germline mutation-related syndromes with multifocal neoplasia (6,10,20). The described tubal proliferations, including SCOUTs, bear some resemblance to microadenomas described in colonic carcinogenesis (18).…”

Recombinant Viral Vectors for Investigating DNA Damage Responses and Gene Therapy of Xeroderma Pigmentosum

“…For most patients, often referred to as classical XP, this syndrome is caused by an impaired GG-NER activity, with or without deficiencies in TC-NER, determined by mutations in one of seven NER genes (XPA to XPG). When TC-NER is also affected (mutations in XPA, XPB, XPD and XPG genes), accelerated neurodegeneration may also occur in a substantial number of patients, suggesting increased neuronal cell death due to accumulated endogenous damage (Gerstenblith et al, 2010;Hoeijmakers, 2009). The eighth complementation group corresponds to the XP-variant (NER).…”

Neurofibromatosis type II dental management, case report, and review of the literature

“…Neurofibromatosis forms a group of three different tumor disorders, including neurofibromatosis type I, neurofibromatosis type II, and schwannomatosis. These three types of neurofibromatosis show different gene origination and clinical characteristics but exhibit the same autosomal dominant mode of inheritance …”

“…These three types of neurofibromatosis show different gene origination and clinical characteristics but exhibit the same autosomal dominant mode of inheritance. 1 Neurofibromatosis type II [NF2], 2 [OMIM#1010002], is an autosomal dominant tumor prone disorder characterized by the development of multiple tumors, including meningiomas and shwannomas. The prevalence of NF2 has been recently estimated at about 1:60,000 whereas the incidence of new cases is approximately 1:25,000.…”

“…8 With regard to the oral manifestations of NF2, there are reports of oral neurofibromas, which are classified as benign tumors of the nerve sheath composed of spindle cells and they are reported less frequently than in neurofibromatosis type 1 cases. 1,13 In general, oral manifestation in Neurofibromatosis reported in 4%-7% of the cases and usually the lesions are soft tissue neurofibromas located on the tongue. 13,14 Other common affected sites can be the gingiva, the lips, the palate, the buccal mucosa, and the floor of the mouth.…”