A High-throughput Molecular Data Resource for Cutaneous Neurofibromas

Overview

Journal Sci Data

Specialty Science

Date 2017 Apr 12

PMID 28398289

Citations 15

Authors

Sara J C Gosline

Hubert Weinberg

Pamela Knight

Thomas Yu

Xindi Guo

Nripesh Prasad

Angela Jones

Shristi Shrestha

Braden Boone

Shawn E Levy

Salvatore La Rosa

Justin Guinney

Annette Bakker

Affiliations

Soon will be listed here.

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients. Data collected from each tumour includes (1) SNP Arrays, (2) Whole genome sequencing (WGS) and (3) RNA-Sequencing. These data are now freely available for further analysis at http://www.synapse.org/cutaneousNF.

Citing Articles

A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening.

Nguyen H, Kohl E, Bade J, Eng S, Tosevska A, Al Shihabi A Cell Rep Methods. 2024; 4(5):100772.

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Ex vivo to in vivo model of malignant peripheral nerve sheath tumors for precision oncology.

Larsson A, Bhatia H, Calizo A, Pollard K, Zhang X, Conniff E Neuro Oncol. 2023; 25(11):2044-2057.

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Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.

Wallis D, Stemmer-Rachamimov A, Adsit S, Korf B, Pichard D, Blakeley J Neurology. 2021; 97(7 Suppl 1):S42-S49.

PMID: 34230199 PMC: 8594001. DOI: 10.1212/WNL.0000000000012426.

A clinically and genomically annotated nerve sheath tumor biospecimen repository.

Pollard K, Banerjee J, Doan X, Wang J, Guo X, Allaway R Sci Data. 2020; 7(1):184.

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Translating current basic research into future therapies for neurofibromatosis type 1.

Brosseau J, Liao C, Le L Br J Cancer. 2020; 123(2):178-186.

PMID: 32439933 PMC: 7374719. DOI: 10.1038/s41416-020-0903-x.

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