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一个具有临床和基因组注释的神经鞘瘤生物标本库。

A clinically and genomically annotated nerve sheath tumor biospecimen repository.

机构信息

Sidney Kimmel Comprehensive Cancer Center and Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, USA.

Sage Bionetworks, Seattle, USA.

出版信息

Sci Data. 2020 Jun 19;7(1):184. doi: 10.1038/s41597-020-0508-5.


DOI:10.1038/s41597-020-0508-5
PMID:32561749
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7305302/
Abstract

Nerve sheath tumors occur as a heterogeneous group of neoplasms in patients with neurofibromatosis type 1 (NF1). The malignant form represents the most common cause of death in people with NF1, and even when benign, these tumors can result in significant disfigurement, neurologic dysfunction, and a range of profound symptoms. Lack of human tissue across the peripheral nerve tumors common in NF1 has been a major limitation in the development of new therapies. To address this unmet need, we have created an annotated collection of patient tumor samples, patient-derived cell lines, and patient-derived xenografts, and carried out high-throughput genomic and transcriptomic characterization to serve as a resource for further biologic and preclinical therapeutic studies. In this work, we release genomic and transcriptomic datasets comprised of 55 tumor samples derived from 23 individuals, complete with clinical annotation. All data are publicly available through the NF Data Portal and at http://synapse.org/jhubiobank.

摘要

神经鞘瘤是神经纤维瘤病 1 型(NF1)患者中一组异质性的肿瘤。恶性形式是 NF1 患者死亡的最常见原因,即使是良性肿瘤,也会导致严重的畸形、神经功能障碍和一系列严重的症状。缺乏 NF1 中常见的周围神经肿瘤的人体组织,一直是开发新疗法的主要限制。为了解决这一未满足的需求,我们创建了一个注释的患者肿瘤样本、患者来源的细胞系和患者来源的异种移植物的集合,并进行了高通量基因组和转录组特征分析,作为进一步生物学和临床前治疗研究的资源。在这项工作中,我们发布了由 23 个人的 55 个肿瘤样本组成的基因组和转录组数据集,包括临床注释。所有数据均可通过 NF 数据门户和 http://synapse.org/jhubiobank 公开获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/990feb799df3/41597_2020_508_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/d578c2150101/41597_2020_508_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/0220db4612d0/41597_2020_508_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/e24a204499b9/41597_2020_508_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/990feb799df3/41597_2020_508_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/d578c2150101/41597_2020_508_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/0220db4612d0/41597_2020_508_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/e24a204499b9/41597_2020_508_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d63/7305302/990feb799df3/41597_2020_508_Fig4_HTML.jpg

相似文献

[1]
A clinically and genomically annotated nerve sheath tumor biospecimen repository.

Sci Data. 2020-6-19

[2]
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Hum Mutat. 2012-3-5

[3]
Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1.

Anticancer Res. 2009-4

[4]
NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Int J Oncol. 2012-12-24

[5]
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients.

Neurobiol Dis. 2004-6

[6]
Malignant peripheral nerve sheath tumor: pathology and genetics.

Ann Diagn Pathol. 2014-4

[7]
Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.

Cancer Med. 2015-12

[8]
Mouse models of tumor development in neurofibromatosis type 1.

Science. 1999-12-10

[9]
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings.

J Cancer Res Clin Oncol. 2010-3-15

[10]
Gains in chromosomes 7, 8q, 15q and 17q are characteristic changes in malignant but not in benign peripheral nerve sheath tumors from patients with Recklinghausen's disease.

Cancer Lett. 2000-7-31

引用本文的文献

[1]
Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset.

Sci Data. 2025-7-15

[2]
The CoREST complex is a therapeutic vulnerability in malignant peripheral nerve sheath tumors.

Sci Rep. 2025-3-24

[3]
DLK1 Distinguishes Subsets of NF1-Associated Malignant Peripheral Nerve Sheath Tumors with Divergent Molecular Signatures.

Clin Cancer Res. 2025-5-15

[4]
Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.

Cancer Res Commun. 2025-2-1

[5]
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1.

Neuro Oncol. 2025-3-7

[6]
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Int J Mol Sci. 2024-10-9

[7]
Multidimensional Immunotyping of Human NF1-Associated Peripheral Nerve Sheath Tumors Uncovers Tumor-Associated Macrophages as Key Drivers of Immune Evasion in the Tumor Microenvironment.

Clin Cancer Res. 2024-12-2

[8]
A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening.

Cell Rep Methods. 2024-5-20

[9]
Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.

Clin Cancer Res. 2024-3-1

[10]
CDK4/6 inhibition enhances SHP2 inhibitor efficacy and is dependent upon RB function in malignant peripheral nerve sheath tumors.

Sci Adv. 2023-11-24

本文引用的文献

[1]
Engaging a community to enable disease-centric data sharing with the NF Data Portal.

Sci Data. 2019-12-13

[2]
A universal SNP and small-indel variant caller using deep neural networks.

Nat Biotechnol. 2018-9-24

[3]
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells.

Sci Data. 2018-6-12

[4]
A high-throughput molecular data resource for cutaneous neurofibromas.

Sci Data. 2017-4-11

[5]
Salmon provides fast and bias-aware quantification of transcript expression.

Nat Methods. 2017-3-6

[6]
Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Cancer. 2017-4-1

[7]
The Challenge of Cancer Genomics in Rare Nervous System Neoplasms: Malignant Peripheral Nerve Sheath Tumors as a Paradigm for Cross-Species Comparative Oncogenomics.

Am J Pathol. 2016-3

[8]
Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.

Nat Genet. 2014-11

[9]
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

Nat Genet. 2014-11

[10]
BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors.

Neuro Oncol. 2014-3

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