Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

Abstract Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous condition that predisposes to the development of peripheral nerve sheath tumors (PNST) including cutaneous neurofibromas (CNF), plexiform neurofibromas (PNF), atypical neurofibromatous neoplasms of uncertain biologic potential (A...

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Main Authors: Jineta Banerjee, Yang Lyu, Stavriani C. Makri, Alexandra J. Scott, Lindy Zhang, Ana Calizo, Kai Pollard, Kuangying Yang, John M. Gross, Calixto-Hope G. Lucas, Jiawan Wang, Adam S. Levin, Allan J. Belzberg, Carlos G. Romo, Robert J. Allaway, Jaishri O. Blakeley, Angela C. Hirbe, Christine A. Pratilas
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Data
Online Access:https://doi.org/10.1038/s41597-025-05433-7
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Summary:Abstract Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous condition that predisposes to the development of peripheral nerve sheath tumors (PNST) including cutaneous neurofibromas (CNF), plexiform neurofibromas (PNF), atypical neurofibromatous neoplasms of uncertain biologic potential (ANNUBP), and malignant peripheral nerve sheath tumors (MPNST). The Johns Hopkins NF1 biospecimen repository promotes the successful advancement of therapeutic developments for NF1-associated PNST through acquisition and genomic analysis of human tumor specimens. RNA sequencing (RNAseq) and whole exome sequencing (WES) data were generated from 73 and 114 primary human tumor samples, respectively. These pre-processed data, standardized for immediate computational analysis, are accessible through the NF Data Portal, allowing immediate interrogation. This dataset combines new and previously released samples, offering a comprehensive view of the entire cohort sequenced. As a dedicated effort to systematically bank tumor samples from people with NF1, in collaboration with molecular geneticists and computational biologists, the Johns Hopkins NF1 biospecimen repository offers access to tissue samples and genomic data to promote the advancement of NF1-related tumor biologic insights and therapies.
ISSN:2052-4463

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