ArticleCold Spring Harbor molecular case studies2015
Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib.
Article in Cold Spring Harbor molecular case studies, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Granular Cell Tumors of the Musculoskeletal System and Peripheral Nerves: A Systematic Review of Clinical Presentations, Treatments, and Outcomes.Diagnostics (Basel, Switzerland) · 2026Review
- Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.La Tunisie medicale · 2024Review
- Granular cell tumor of the breast: A case report and review of literature.World journal of clinical cases · 2023Article
- Review
- A Rare Case of Multifocal Asynchronous Benign Granular Cell Tumors withCase reports in pathology · 2023Article
- Cutaneous granular cell tumor: A case series, review, and update.Journal of family medicine and primary care · 2022Article
- Atypical granular cell tumor of the urinary bladder: A case report.World journal of clinical cases · 2021Article
- Article
- Efficient identification of neoantigen-specific T-cell responses in advanced human ovarian cancer.Journal for immunotherapy of cancer · 2019Article
- Analysis of mutations in primary and metastatic synovial sarcoma.Oncotarget · 2018Article
- Comparison of SureSelect and Nextera Exome Capture Performance in Single-Cell Sequencing.Human heredity · 2018Article
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Authors and funding
30 authors at 1 institution in 1 country.
Funding
Abstract
Granular cell tumors are an uncommon soft tissue neoplasm. Malignant granular cell tumors comprise <2% of all granular cell tumors, are associated with aggressive behavior and poor clinical outcome, and are poorly understood in terms of tumor etiology and systematic treatment. Because of its rarity, the genetic basis of malignant granular cell tumor remains unknown. We performed whole-genome sequencing of one malignant granular cell tumor with metabolic response to pazopanib. This tumor exhibited a very low mutation rate and an overall stable genome with local complex rearrangements. The mutation signature was dominated by C>T transitions, particularly when immediately preceded by a 5' G. A loss-of-function mutation was detected in a newly recognized tumor suppressor candidate, BRD7. No mutations were found in known targets of pazopanib. However, we identified a receptor tyrosine kinase pathway mutation in GFRA2 that warrants further evaluation. To the best of our knowledge, this is only the second reported case of a malignant granular cell tumor exhibiting a response to pazopanib, and the first whole-genome sequencing of this uncommon tumor type. The findings provide insight into the genetic basis of malignant granular cell tumors and identify potential targets for further investigation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.