Genetic Predisposition to Cutaneous Squamous Cell Carcinoma

Ng, Yi-Zhen; Dayal, Jasbani H.S.; South, Andrew P.

doi:10.5772/26714

Cited by 6 publications

(4 citation statements)

References 213 publications

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“…When mutated, certain molecules responsible for cellular adhesion via ECM interactions cause severe monogenic disease that can lead to neoplasia (Ng, Dayal et al 2011). In patients with RDEB caused by mutations in the gene encoding type VII collagen, the epidermis fails to adhere to the underlying dermis as type VII collagen is the main component of anchoring fibrils which contribute to the hemidesmosome-anchoring filament complex.…”

Section: Extracellular Matrix Can Profoundly Influence Tumour Progresmentioning

confidence: 99%

Tumour–stroma crosstalk in the development of squamous cell carcinoma

Lim

South

2014

The International Journal of Biochemistry & Cell Biology

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Section: Extracellular Matrix Can Profoundly Influence Tumour Progresmentioning

confidence: 99%

Tumour–stroma crosstalk in the development of squamous cell carcinoma

Lim

South

2014

The International Journal of Biochemistry & Cell Biology

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“…2 Genetic predisposition to CSCC has been noted in patients with familial cancer syndromes, such as xeroderma pigmentosum, and hereditary skin disorders, such as albinism. 4 The increased frequency of CSCC with immunosuppression is clearly evident in transplant recipients. 2,5 In this population, CSCC is more frequent than BCC and often takes an aggressive form.…”

Section: Doctor Caroline Robertmentioning

confidence: 99%

Unlocking the Potential of Immuno-Oncology in Advanced Cutaneous Squamous Cell Carcinoma: Role of Checkpoint Blockade

Pedder¹

2019

EMJ Dermatol

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Dr Robert welcomed the delegates to the symposium and outlined the agenda for the meeting, before presenting the first session on understanding cutaneous squamous cell carcinoma (CSCC). The rising incidence of CSCC presents a major challenge for healthcare systems and the frequency and impact of progression to advanced disease is underestimated. The diverse range and potential complications of CSCC lesions require a multidisciplinary approach, in which dermatologists play an important role. The message that CSCC remains a disease of high unmet need was echoed by Dr Peris, who presented on existing treatment approaches for the management of advanced CSCC. In the absence of an established management pathway for patients with locally advanced or metastatic disease, clinicians must rely on limited or anecdotal evidence to inform treatment decisions. Conventional chemotherapy and targeted therapies produce variable responses that are often short-lived, demonstrating a need for more effective and tolerable systemic treatments. Guidelines recognise these limitations and do not make any firm recommendations for the treatment of advanced CSCC. The importance of a multidisciplinary approach was underlined by Dr Migden’s presentation on future novel therapeutic strategies in CSCC. Immunotherapy is an exciting frontier that is becoming increasingly relevant to many specialists, including dermatologists, with several ongoing trials of immune checkpoint inhibitors in patients with advanced CSCC. A strong rationale exists for immunotherapy in these patients and the current evidence base supports the use of immune checkpoint blockade as an alternative to cytotoxic chemotherapy and targeted agents. Dr Migden concluded the symposium with an interactive presentation of five case studies of successful checkpoint inhibitor treatment of locally advanced CSCC, emphasising the key role of dermatologists in a multidisciplinary team approach.

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“…The main risk factor for cSCC in the general population is UV radiation (Fears and Scotto, 1983;Preston and Stern, 1992), but other factors such as HPV infection (McGregor and Proby, 1996;Harwood and Proby, 2002) and immunosuppression in organ transplant patients (Rowe et al, 1992;Veness et al, 1999) have been documented. Inherited skin disease can also predispose to developing cSCC (Ng et al, 2011); in particular, individuals diagnosed with recessive dystrophic epidermolysis bullosa (RDEB) (Reed et al, 1975;Fine et al, 2009). Patients with this disease are affected by deleterious mutations in COL7A1, leading to either defective or absent type VII collagen (Christiano et al, 1993).…”

Section: Introductionmentioning

confidence: 99%

Type VII collagen regulates tumour expression of organic anion transporting polypeptide OATP1B3, promotes front to rear polarity and increases structural organisation in 3D spheroid cultures of recessive dystrophic epidermolysis bullosa tumour keratinocytes

Dayal

Cole

Pourreyron

et al. 2013

Journal of Cell Science

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Type VII collagen is the main component of anchoring fibrils, structures that are integral to basement membrane homeostasis in skin. Mutations in the gene encoding type VII collagen COL7A1 cause recessive dystrophic epidermolysis bullosa (RDEB) an inherited skin blistering condition complicated by frequent aggressive cutaneous squamous cell carcinoma (cSCC). OATP1B3, which is encoded by the gene SLCO1B3, is a member of the OATP (organic anion transporting polypeptide) superfamily responsible for transporting a wide range of endogenous and xenobiotic compounds. OATP1B3 expression is limited to the liver in healthy tissues, but is frequently detected in multiple cancer types and is reported to be associated with differing clinical outcome. The mechanism and functional significance of tumour-specific expression of OATP1B3 has yet to be determined. Here, we identify SLCO1B3 expression in tumour keratinocytes isolated from RDEB and UV-induced cSCC and demonstrate that SLCO1B3 expression and promoter activity are modulated by type VII collagen. We show that reduction of SLCO1B3 expression upon expression of full-length type VII collagen in RDEB cSCC coincides with acquisition of front-to-rear polarity and increased organisation of 3D spheroid cultures. In addition, we show that type VII collagen positively regulates the abundance of markers implicated in cellular polarity, namely ELMO2, PAR3, E-cadherin, B-catenin, ITGA6 and Ln332.

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Genetic Predisposition to Cutaneous Squamous Cell Carcinoma

Cited by 6 publications

References 213 publications

Tumour–stroma crosstalk in the development of squamous cell carcinoma

Tumour–stroma crosstalk in the development of squamous cell carcinoma

Unlocking the Potential of Immuno-Oncology in Advanced Cutaneous Squamous Cell Carcinoma: Role of Checkpoint Blockade

Type VII collagen regulates tumour expression of organic anion transporting polypeptide OATP1B3, promotes front to rear polarity and increases structural organisation in 3D spheroid cultures of recessive dystrophic epidermolysis bullosa tumour keratinocytes

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