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Related Experiment Video

Updated: Jun 17, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
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Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

A high-throughput molecular data resource for cutaneous neurofibromas.

Sara J C Gosline1, Hubert Weinberg2, Pamela Knight3

  • 1Computational Oncology, Sage Bionetworks, Seattle, Washington 98109, USA.

Scientific Data
|April 12, 2017
PubMed
Summary

This study molecularly profiled cutaneous neurofibromas from Neurofibromatosis type 1 (NF1) patients. The generated data, including SNP Arrays, whole genome sequencing, and RNA-sequencing, is publicly available for further research.

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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

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Last Updated: Jun 17, 2026

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Published on: August 25, 2021

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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Neurofibromatosis type 1 (NF1) is a genetic disorder causing various symptoms, including neurofibromas.
  • The Children's Tumour Foundation biobank facilitates patient-derived neurofibroma sample collection for research.
  • Cutaneous neurofibromas are common benign tumors associated with NF1.

Purpose of the Study:

  • To molecularly characterize cutaneous neurofibromas.
  • To provide a comprehensive dataset for the scientific community.
  • To facilitate further research into NF1 pathogenesis and treatment.

Main Methods:

  • Pilot study involving molecular profiling of approximately 40 cutaneous neurofibromas.
  • Samples collected from 11 individual patients with NF1.
  • Utilized SNP Arrays, Whole Genome Sequencing (WGS), and RNA-Sequencing.

Main Results:

  • Generated comprehensive molecular data for cutaneous neurofibromas.
  • Data includes genetic variations (SNP Arrays, WGS) and gene expression profiles (RNA-Sequencing).
  • The dataset is publicly accessible for the scientific community.

Conclusions:

  • This pilot study provides valuable molecular insights into cutaneous neurofibromas.
  • Freely available data will accelerate NF1 research.
  • Further analysis of this dataset may reveal therapeutic targets.