Cowden's disease. Association with squamous cell carcinoma of the tongue and perianal basal cell carcinoma

Camisa, Charles; Bikowski, Joseph; McDonald, Sharon G.

doi:10.1001/archderm.120.5.677

Cited by 12 publications

(7 citation statements)

References 6 publications

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“…The skin of these mice shows focally increased epidermal thickness due to hyperkeratosis (Di Cristofano et al 1998), a feature commonly observed with CD patients. The association of squamous cell carcinomas with CD has also been reported (Camisa et al 1984;Hildenbrand et al 2001), but these lesions were not observed in Pten +/− animals. On the other hand, 100% of mice with complete Pten deficiency, and a proportion with Pten heterozygosity, in their keratinocytes spontaneously develop papillomas and squamous cell carcinomas (Suzuki et al 2003), indicating that Pten is an important suppressor of skin tumorigenesis.…”

mentioning

confidence: 67%

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Mao¹,

To²,

Pérez-Losada³

et al. 2004

Genes Dev.

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) mice develop increased papilloma numbers and show decreased carcinoma latency time in comparison with controls after skin treatment with dimethyl benzanthracene (DMBA) and tetradecanoyl-phorbol acetate (TPA). H-ras mutation is normally a hallmark of DMBA-TPA-induced skin tumors, but 70% of carcinomas from Pten +/− mice do not exhibit this mutation, and in all cases have lost the wild-type Pten allele. Tumors that retain the Pten wild-type allele also have H-ras mutations, indicating that activation of Hras and complete loss of Pten are mutually exclusive events in skin carcinomas. Mitogen-activated protein kinase (MAPK) is consistently activated in the tumors with H-ras mutations, but is strongly down-regulated in Pten −/− tumors, suggesting that this pathway is dispensable for skin carcinoma formation. These data have important implications in designing individual therapeutic strategies for the treatment of cancer.

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mentioning

confidence: 67%

Mutually exclusive mutations of the Pten and ras pathways in skin tumor progression

Mao¹,

To²,

Pérez-Losada³

et al. 2004

Genes Dev.

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“…The association of cutaneous squamous cell carcinomas with Cowden disease has also been reported (Camisa et al, 1984;Nuss et al, 1978).…”

Section: Role Of Pten In Keratinocytesmentioning

confidence: 93%

Physiological Functions of Pten in Mouse Tissues.

Kishimoto

Hamada

Saunders

et al. 2003

Cell Struct. Funct.

107

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ABSTRACT. PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease. The major substrate of PTEN is PIP3, a second messenger molecule produced following PI3K activation induced by variety of stimuli. PIP3 activates the serine-threonine kinase PKB/Akt which is involved in anti-apoptosis, proliferation and oncogenesis. In mice, heterozygosity for a null mutation of Pten (Pten +/-mice) frequently leads to the development of a variety of cancers and autoimmune disease. Homozygosity for the null mutation (Pten -/-mice) results in early embryonic lethality, precluding the functional analysis of Pten in various organs. To investigate the physiological functions of Pten in viable mice, various tissue-specific Pten mutations have been generated using the Cre-loxP system. This review will summarize the phenotypes of conditional mutant mice lacking Pten function in specific tissues, and discuss how these phenotypes relate to the physiological roles of Pten in various organ systems.

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“…11 In fact, the association between Pten deficiency and cutaneous squamous cell carcinomas has only been demonstrated in Cowden's disease in which mutations in Pten are acquired through germline transmission. 12,13 …”

Section: Pten Deficiency and Skin Cancermentioning

confidence: 99%

“…Mice that are constitutively Pten heterozygous mimic the condition of Cowden disease, and offer a unique model system to study skin cancer development in a manner akin to the situation in humans. 12,13 …”

Section: Non-cell Autonomous Effects Of Pten Lossmentioning

confidence: 99%