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614 Analysis of the expression of a transcription factor, E2F4, in cutaneous squamous cell carcinoma (SCC)
Melanoma and Other Skin Cancers | ABSTRACTS 612
Cutaneous squamous cell carcinoma in Morocco: The epidemiological evidence A Haimer1, F Habib2, A Soulaymani1, A Mokhtari1 and H Hami1 1 Laboratory of Genetics and Biometry, Faculty of Science, Ibn Tofail University, Kenitra, Morocco and 2 Al Azhar Oncology Center, Rabat, Morocco Squamous cell carcinoma (SCC) is the second most common non-melanoma skin cancer worldwide, after basal cell carcinoma. The aim of this study is to determine the epidemiological characteristics of cutaneous squamous cell carcinoma in Morocco. This is a descriptive retrospective study of all patients treated for cutaneous squamous cell carcinoma at Al Azhar Oncology Center in Rabat between 2005 and 2015. During this period, there were 18 new cases diagnosed with SCC (9 men and 9 women), accounting for 18.8% of all skin cancers reported during the study period. The average age at diagnosis of SCC was 50.614.6 years (range 8-69 years). The risk of developing SCC is associated with age, 72.3% of cases were diagnosed in patients aged 50 years and older at the time of diagnosis and 61.2% in adults aged 50-64 years. A 50-year-old man was diagnosed with metastatic disease. Among the cases for whom the outcome was known, 3 died from the disease within one year of diagnosis. Despite the limitations of the available data, it is clear that there are several barriers to access to cancer control in developing countries. This includes prevention, early detection, diagnosis and treatment.
613
The frequency of PPP6C exon 7 mutations and clinicopathological features in cutaneous melanoma patients M Aksenenko and T Ruksha Department of Pathophysiology, Krasnoyarsk State Medical University, Krasnoyarsk, Russian Federation Serine/threonine-protein phosphatase 6 catalytic subunit is an enzyme that in humans is encoded by the PPP6C gene. Mutations in the PPP6C gene are found in skin melanoma. In addition, it was found that genetic aberrations in this gene can be associated with the presence of BRAF and NRAS gene mutations. PP6C has been reported to play an important role in several cancer signaling pathways including mitogen-activated protein kinase. The aim of this study was to evaluate the frequency PPP6C gene mutations in patients with cutaneous melanoma (n¼40) and their relation to BRAF or NRAS status. Genomic DNA was extracted from biopsy specimens with suitable percentage of tumor cells. BRAF V600E mutation as estimated by real-time PCR based allele-specific DNA test. An NRAS exon 3 mutation was determined by Sanger sequencing. 12, 5% melanoma patients had PPP6C exon 7 mutations, all of them were missense-mutations, including: G266R, I271N, P259H, and P259L. BRAF mutations were found in 80% PPP6C + patients and a 20% of patients with NRAS positive status. PPP6C-positive patients were characterized by the prevalence of female gender with more often tumor localization on lower extremities (80%), average thickness was 2,01 to 4,0 mm in Breslow, 60% of PPP6C epositive patients had intensive level of tumor lymphocytic infiltration. 80% PPP6C+ patients had nodular form and epithelioid histotype of the tumor. In addition, these tumors in 100% of cases were characterized by a high level of pigmentation. We found no association between PP6C mutation and BRAF/NRAS mutations. The lack of this relationship may be due to the fact that these mutations may affect other signaling pathways excluding BRAF/NRAS associated.
614
Analysis of the expression of a transcription factor, E2F4, in cutaneous squamous cell carcinoma (SCC) H Mitsui, S Shimada and T Kawamura Department of Dermatology, University of Yamanashi, Chuo, Japan There is an increasing trend to treat specific cancers with cell-specific or pathway-specific antagonists. Although second most frequent skin cancer, the molecular mechanisms underlying development and progression of cutaneous SCC remains unclear. We has been studying SCC on the basis of differentially expressed gene list generated by the combination of laser capture microdissection and cDNA microarray technology. One transcription factor that was significantly upregulated in actinic keratosis, a known pre-cancerous condition, and SCC compared to normal epidermis was E2F4 (FCH>15 and FDR<10-4). E2F4 is a member of the E2F family of transcription factors that have a critical role in the control of cellular proliferation and apoptosis. Recent studies identified the roles of E2F4 in cancer, including breast carcinoma, prostate cancer, and melanoma. However, its roles in SCC have not been studied to date. In this study, we aimed to elucidate the functions of E2F4 in development and progression of cutaneous SCC. To achieve this, we first evaluated and compared the expression of E2F4 in various skin conditions. The specific expression of E2F4 in the nucleus of SCC tissues but not in other skin conditions, such as basal cell carcinoma (BCC), seborrheic keratosis, and psoriasis was identified by immunohistochemistry. We further confirmed that SCC cell lines (A431 and HSC-5) expressed E2F4 at genomic and protein levels. Our results suggest that E2F4 may have some functions in development and progression of cutaneous SCC.
www.jidonline.org S297
Cutaneous squamous cell carcinoma in Morocco: The epidemiological evidence A Haimer1, F Habib2, A Soulaymani1, A Mokhtari1 and H Hami1 1 Laboratory of Genetics and Biometry, Faculty of Science, Ibn Tofail University, Kenitra, Morocco and 2 Al Azhar Oncology Center, Rabat, Morocco Squamous cell carcinoma (SCC) is the second most common non-melanoma skin cancer worldwide, after basal cell carcinoma. The aim of this study is to determine the epidemiological characteristics of cutaneous squamous cell carcinoma in Morocco. This is a descriptive retrospective study of all patients treated for cutaneous squamous cell carcinoma at Al Azhar Oncology Center in Rabat between 2005 and 2015. During this period, there were 18 new cases diagnosed with SCC (9 men and 9 women), accounting for 18.8% of all skin cancers reported during the study period. The average age at diagnosis of SCC was 50.614.6 years (range 8-69 years). The risk of developing SCC is associated with age, 72.3% of cases were diagnosed in patients aged 50 years and older at the time of diagnosis and 61.2% in adults aged 50-64 years. A 50-year-old man was diagnosed with metastatic disease. Among the cases for whom the outcome was known, 3 died from the disease within one year of diagnosis. Despite the limitations of the available data, it is clear that there are several barriers to access to cancer control in developing countries. This includes prevention, early detection, diagnosis and treatment.
613
The frequency of PPP6C exon 7 mutations and clinicopathological features in cutaneous melanoma patients M Aksenenko and T Ruksha Department of Pathophysiology, Krasnoyarsk State Medical University, Krasnoyarsk, Russian Federation Serine/threonine-protein phosphatase 6 catalytic subunit is an enzyme that in humans is encoded by the PPP6C gene. Mutations in the PPP6C gene are found in skin melanoma. In addition, it was found that genetic aberrations in this gene can be associated with the presence of BRAF and NRAS gene mutations. PP6C has been reported to play an important role in several cancer signaling pathways including mitogen-activated protein kinase. The aim of this study was to evaluate the frequency PPP6C gene mutations in patients with cutaneous melanoma (n¼40) and their relation to BRAF or NRAS status. Genomic DNA was extracted from biopsy specimens with suitable percentage of tumor cells. BRAF V600E mutation as estimated by real-time PCR based allele-specific DNA test. An NRAS exon 3 mutation was determined by Sanger sequencing. 12, 5% melanoma patients had PPP6C exon 7 mutations, all of them were missense-mutations, including: G266R, I271N, P259H, and P259L. BRAF mutations were found in 80% PPP6C + patients and a 20% of patients with NRAS positive status. PPP6C-positive patients were characterized by the prevalence of female gender with more often tumor localization on lower extremities (80%), average thickness was 2,01 to 4,0 mm in Breslow, 60% of PPP6C epositive patients had intensive level of tumor lymphocytic infiltration. 80% PPP6C+ patients had nodular form and epithelioid histotype of the tumor. In addition, these tumors in 100% of cases were characterized by a high level of pigmentation. We found no association between PP6C mutation and BRAF/NRAS mutations. The lack of this relationship may be due to the fact that these mutations may affect other signaling pathways excluding BRAF/NRAS associated.
614
Analysis of the expression of a transcription factor, E2F4, in cutaneous squamous cell carcinoma (SCC) H Mitsui, S Shimada and T Kawamura Department of Dermatology, University of Yamanashi, Chuo, Japan There is an increasing trend to treat specific cancers with cell-specific or pathway-specific antagonists. Although second most frequent skin cancer, the molecular mechanisms underlying development and progression of cutaneous SCC remains unclear. We has been studying SCC on the basis of differentially expressed gene list generated by the combination of laser capture microdissection and cDNA microarray technology. One transcription factor that was significantly upregulated in actinic keratosis, a known pre-cancerous condition, and SCC compared to normal epidermis was E2F4 (FCH>15 and FDR<10-4). E2F4 is a member of the E2F family of transcription factors that have a critical role in the control of cellular proliferation and apoptosis. Recent studies identified the roles of E2F4 in cancer, including breast carcinoma, prostate cancer, and melanoma. However, its roles in SCC have not been studied to date. In this study, we aimed to elucidate the functions of E2F4 in development and progression of cutaneous SCC. To achieve this, we first evaluated and compared the expression of E2F4 in various skin conditions. The specific expression of E2F4 in the nucleus of SCC tissues but not in other skin conditions, such as basal cell carcinoma (BCC), seborrheic keratosis, and psoriasis was identified by immunohistochemistry. We further confirmed that SCC cell lines (A431 and HSC-5) expressed E2F4 at genomic and protein levels. Our results suggest that E2F4 may have some functions in development and progression of cutaneous SCC.
www.jidonline.org S297