TY - JOUR
T1 - Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors
T2 - an updated biorepository dataset
AU - Banerjee, Jineta
AU - Lyu, Yang
AU - Makri, Stavriani C.
AU - Scott, Alexandra J.
AU - Zhang, Lindy
AU - Calizo, Ana
AU - Pollard, Kai
AU - Yang, Kuangying
AU - Gross, John M.
AU - Lucas, Calixto Hope G.
AU - Wang, Jiawan
AU - Levin, Adam S.
AU - Belzberg, Allan J.
AU - Romo, Carlos G.
AU - Allaway, Robert J.
AU - Blakeley, Jaishri O.
AU - Hirbe, Angela C.
AU - Pratilas, Christine A.
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/12
Y1 - 2025/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105010903893
U2 - 10.1038/s41597-025-05433-7
DO - 10.1038/s41597-025-05433-7
M3 - Article
C2 - 40664660
AN - SCOPUS:105010903893
SN - 2052-4463
VL - 12
JO - Scientific data
JF - Scientific data
IS - 1
M1 - 1229
ER -