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EGAS00001005721-sc-2024-06-24T09:34:59Z - samples

ABSTRACT: Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

PROVIDER: EGAD00001015377 | EGA |

REPOSITORIES: EGA

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EGAS00001005720-sc-2024-06-24T09:34:49Z - samples

Project description:Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.

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Reconstitution of the human pancreatic niche stimulates differentiation of hESCs into beta cells and reveals new signals for pancreatic endocrine cell maturation

Project description:RNA-seq was performed for hESC-derived endocrine progenitors (EPs) treated with WNT5A for short-term (12h) and long-term (5 days) to investigate the downstream targets of WNT5A in EPs. Sequencing of untreated cells and those treated with WNT5A for 12h, which are at EP stage, and for 5 days, which are at beta cell stage, allowed for observation of developmental changes during in vitro differentiation.

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Multiresolution imaging using bioluminescence resonance energy transfer identifies distinct biodistribution profiles of extracellular vesicles and exomeres with redirected tropism

Project description:Extracellular particles (EPs) including extracellular vesicles and exomeres play a significant role in diseases and therapeutic applications. However, the spatiotemporal dynamics of EPs in vivo remains to be elucidated with a suitable method. In this study, we developed a bioluminescence resonance energy transfer (BRET)-based reporter, PalmGRET, to visualize, track and quantify EPs both in vitro and in vivo. To explore the tropism effect of membrane proteins on EPs from lung metastatic hepatocellular carcimoma (HCC), we established PalmGRET in a mouse hepatocellular carcinoma cell line, HCA1, termed HCA1-PalmGRET. EP harvested from HCA1-PalmGRET cells were processed with gel electrophoresis, followed by in-gel digestion and LC-MS/MS analysis. The identified protein list was compared with published lung tropism databases and four membrane proteins were selected for subsequent gene knockdown experiments: solute carrier organic anion transporter family member 2A1 (Slco2a1), alanine aminopeptidase (Anpep/Cd13), chloride intracellular channel 1 (Clic1), and sodium-hydrogen antiporter 3 regulator 1 (Nherf1). Using PalmGRET, we revealed that knockdown of Slco2a1, Cd13 and Clic1 significantly reduced lung tropism of HCC-EPs with varying redirected delivery to other organs.

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Sweat gland development requires an eccrine dermal niche and couples two epidermal programs

Project description:Eccrine sweat glands are indispensable for human thermoregulation and, similar to other mammalian skin appendages, form from multipotent epidermal progenitors. Limited understanding of how epidermal progenitors specialize to form these vital organs has precluded therapeutic efforts toward their regeneration. Herein, we applied single-nucleus transcriptomics to compare the expression content of wild-type, eccrine-forming mouse skin to that of mice harboring a skin-specific disruption of Engrailed 1 (En1), a transcription factor that promotes eccrine gland formation in humans and mice. We identify two concurrent but disproportionate epidermal transcriptomes in the early eccrine anlagen: one that is shared with hair follicles and one that is En1 dependent and eccrine specific. We demonstrate that eccrine development requires the induction of a dermal niche proximal to each developing gland in humans and mice. Our study defines the signatures of eccrine identity and uncovers the eccrine dermal niche, setting the stage for targeted regeneration and comprehensive skin repair.

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