Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing
Abstract Neurofibromatosis Type I (NF1) is a neurocutaneous genetic syndrome characterized by a wide spectrum of clinical presentations, including benign peripheral nerve sheath tumor called neurofibroma. These tumors originate from the Schwann cell lineage but other cell types as well as extracellu...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-01-01
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| Series: | Acta Neuropathologica Communications |
| Online Access: | https://doi.org/10.1186/s40478-020-01103-4 |
| _version_ | 1818562720523354112 |
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| author | Jean-Philippe Brosseau Adwait A. Sathe Yong Wang Toan Nguyen Donald A. Glass Chao Xing Lu Q. Le |
| author_facet | Jean-Philippe Brosseau Adwait A. Sathe Yong Wang Toan Nguyen Donald A. Glass Chao Xing Lu Q. Le |
| author_sort | Jean-Philippe Brosseau |
| collection | DOAJ |
| description | Abstract Neurofibromatosis Type I (NF1) is a neurocutaneous genetic syndrome characterized by a wide spectrum of clinical presentations, including benign peripheral nerve sheath tumor called neurofibroma. These tumors originate from the Schwann cell lineage but other cell types as well as extracellular matrix (ECM) in the neurofibroma microenvironment constitute the majority of the tumor mass. In fact, collagen accounts for up to 50% of the neurofibroma’s dry weight. Although the presence of collagens in neurofibroma is indisputable, the exact repertoire of ECM genes and ECM-associated genes (i.e. the matrisome) and their functions are unknown. Here, transcriptome profiling by single-cell RNA sequencing reveals the matrisome of human cutaneous neurofibroma (cNF). We discovered that classic pro-fibrogenic collagen I myofibroblasts are rare in neurofibroma. In contrast, collagen VI, a pro-tumorigenic ECM, is abundant and mainly secreted by neurofibroma fibroblasts. This study also identified potential cell type-specific markers to further elucidate the biology of the cNF microenvironment. |
| first_indexed | 2024-12-14T01:07:28Z |
| format | Article |
| id | doaj.art-8889596d577b433e91c1f13df8ae59f6 |
| institution | Directory Open Access Journal |
| issn | 2051-5960 |
| language | English |
| last_indexed | 2024-12-14T01:07:28Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Acta Neuropathologica Communications |
| spelling | doaj.art-8889596d577b433e91c1f13df8ae59f62022-12-21T23:22:55ZengBMCActa Neuropathologica Communications2051-59602021-01-019111110.1186/s40478-020-01103-4Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencingJean-Philippe Brosseau0Adwait A. Sathe1Yong Wang2Toan Nguyen3Donald A. Glass4Chao Xing5Lu Q. Le6Department of Dermatology, University of Texas Southwestern Medical Center At DallasEugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center At DallasDepartment of Dermatology, University of Texas Southwestern Medical Center At DallasDepartment of Dermatology, University of Texas Southwestern Medical Center At DallasDepartment of Dermatology, University of Texas Southwestern Medical Center At DallasEugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center At DallasDepartment of Dermatology, University of Texas Southwestern Medical Center At DallasAbstract Neurofibromatosis Type I (NF1) is a neurocutaneous genetic syndrome characterized by a wide spectrum of clinical presentations, including benign peripheral nerve sheath tumor called neurofibroma. These tumors originate from the Schwann cell lineage but other cell types as well as extracellular matrix (ECM) in the neurofibroma microenvironment constitute the majority of the tumor mass. In fact, collagen accounts for up to 50% of the neurofibroma’s dry weight. Although the presence of collagens in neurofibroma is indisputable, the exact repertoire of ECM genes and ECM-associated genes (i.e. the matrisome) and their functions are unknown. Here, transcriptome profiling by single-cell RNA sequencing reveals the matrisome of human cutaneous neurofibroma (cNF). We discovered that classic pro-fibrogenic collagen I myofibroblasts are rare in neurofibroma. In contrast, collagen VI, a pro-tumorigenic ECM, is abundant and mainly secreted by neurofibroma fibroblasts. This study also identified potential cell type-specific markers to further elucidate the biology of the cNF microenvironment.https://doi.org/10.1186/s40478-020-01103-4 |
| spellingShingle | Jean-Philippe Brosseau Adwait A. Sathe Yong Wang Toan Nguyen Donald A. Glass Chao Xing Lu Q. Le Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing Acta Neuropathologica Communications |
| title | Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing |
| title_full | Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing |
| title_fullStr | Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing |
| title_full_unstemmed | Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing |
| title_short | Human cutaneous neurofibroma matrisome revealed by single-cell RNA sequencing |
| title_sort | human cutaneous neurofibroma matrisome revealed by single cell rna sequencing |
| url | https://doi.org/10.1186/s40478-020-01103-4 |
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