Project description:External auditory canal squamous cell carcinoma (EACC) is very rare, only accounting for two thousandth of the head and neck cancer. However, the development mechanism of EACC remains unknown. By using gene expression microarray analysis, we aimed to find differentially expressed genes involved in ESCC development. We identified a wide spectrum of molecular signatures in EACC, including mRNA and lncRNA. The present study systematically analyzed the expression of mRNA and lncRNA in squamous cell carcinoma of the external auditory canal and normal external auditory canal tissues. We detect the transcriptomic changes between squamous cell carcinoma of the external auditory canal and normal external auditory canal tissues to identify potential tumor biomarkers in squamous cell carcinoma of the external auditory canal.
Project description:Squamous cell carcinoma of the external auditory canal (EACSCC) is an extraordinarily rare and aggressive malignant disease. Establishment of EACSCC cell line with robust molecular characteristics is essential for the basic and translational research of EACSCC. In this study, we showed the newly established EACSCC cell line SCEACono2, derived from a patient with well-to-moderately differentiated EACSCC. To elucidate the transctomic features of SCEACono2, we performed RNA-seq and revealed its unique characteristics and compared with publicly available head and neck squamous cell caricnoma (HNSCC)-derived cell lines HSC4 and SCC9.
Project description:<p>The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource).</p><p>
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</div><div>All of the WGS and phenotypic data from this study are accessible through dbGaP and <a href="https://kidsfirstdrc.org/" target="_blank">kidsfirstdrc.org</a>, where other Kids First datasets can also be accessed.</div><div><br></div><div>
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</div><div>Microtia is a rare congenital deformity of the external ear, the pinna. The severity of microtia is variable and ranges from subtle deformities in the pinna to absence of the external ear. Microtia is often associated with closure of the external auditory ear canal causing significant hearing loss. Microtia can be an isolated, unilateral or bilateral malformation, or occur solely with ear canal deformities, or with additional craniofacial or syndromic manifestations. Earlier studies of identical twins with microtia demonstrated a significant genetic contribution. The molecular pathogenesis for most microtia remains unknown. We propose to leverage our clinical acumen in diagnosis and treatment of microtia (R.E.), our relationship to the microtia community (M.T.) and our collected DNA samples from microtia patients to identify genetic variant(s) that contribute to this congenital malformation. Microtia prevalence is much higher among Native Americans and some Latin Americans (17 per 10000 Ecuadorian births) than among individuals of European-descent (0.6 -1.6 per 10,000 births). To capitalize on this epidemiologic data, we have recruited microtia cohorts from Latin America and the U.S, including clinical data and DNA samples.
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