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RNA-seq analysis of sporadic and Basal Cell Nevus Syndrome-associated odontogenic keratocysts (OKCs)

ABSTRACT: RNA-seq analysis of sporadic and Basal Cell Nevus Syndrome-associated odontogenic keratocysts (OKCs)

PROVIDER: PRJNA749265 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15225557_1.fastq.gz	Fastqsanger.gz
	SRR15225557_2.fastq.gz	Fastqsanger.gz
	SRR15225558_1.fastq.gz	Fastqsanger.gz
	SRR15225558_2.fastq.gz	Fastqsanger.gz
	SRR15225559_1.fastq.gz	Fastqsanger.gz

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RNA-seq analysis of sporadic and Basal Cell Nevus Syndrome-associated odontogenic keratocysts (OKCs)

Project description:The aim of this study was to decode the gene expression program characterizing odontogenic keratocyst (OKC) development, by performing a comprehensive transcriptomics analysis applied on whole OKC tissue derived from sporadic and Basal Cell Nevus Syndrome (BCNS)-associated OKCs, and control samples of pericoronal tissues of impacted teeth (dental follicles, DFs) derived from healthy individuals.

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Resistance development in basal cell nevus syndrome through the basal to squamous transition

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Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome.

Project description:Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1 encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1 mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.

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Comparative microRNA profiling of sporadic and BRCA1 associated basal-like breast cancers

Project description:Analysis of miRNA expression in grade 3 luminal, sporadic and BRCA1 associated basal-like breast cancers 44 primary grade III breast cancer (11 BRCA1 basal, 16 sporadic basal, 17 luminal) and 13 normal breast FFPE (formalin fixed, paraffin embedded) specimens, plus 7 controls and 5 cell lines were analysed. The aim of the study was to derive grade-specific miRNA signatures for sporadic and BRCA1 basal-like breast cancers, and to ascertain an immunohistochemical profile regulated by BRCA1 specific miRNAs for potential diagnostic uses.

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The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome.

Project description:ImportanceKeratocystic odontogenic tumors (KCOTs) of the jaw affect more than 65% of patients with basal cell nevus syndrome (BCNS). Surgery frequently causes facial disfigurement and is not always curative. Most BCNS-related and some sporadic KCOTs have malignant activation of the Hedgehog signaling pathway.ObservationsWe examined the effect of vismodegib (an oral Hedgehog pathway inhibitor) on KCOT size in patients with BCNS enrolled in a clinical trial testing vismodegib for basal cell carcinoma prevention (NCT00957229), using pretreatment and posttreatment magnetic resonance imaging. Four men and 2 women had pretreatment KCOTs (mean longest diameter, 2.0 cm; range, 0.7-3.3 cm), occurring primarily in the mandible. Patients were treated with vismodegib, 150 mg/d, for a mean (SD) of 18.0 (4.8) months (range, 11-24 months). Four patients experienced a size reduction and 2 had no change. Vismodegib reduced the mean longest diameter of KCOTs in all patients by 1.0 cm (95% CI, 0.03-1.94; P = .02) or 50% from baseline. We observed no enlargement of existing KCOTs or new KCOT development.Conclusions and relevanceVismodegib shrinks some KCOTs in patients with BCNS and may offer an alternative to surgical therapy. These effects were maintained for at least 9 months after drug cessation in 1 patient. Further studies assessing long-term efficacy and optimal maintenance regimens should be performed.

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