ArticlePloS one2013
Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Molecular pathways and therapeutic strategies in dermatofibrosarcoma protuberans (DFSP): unravelling the tumor's genetic landscape.EXCLI journal · 2024Review
- Multi-omic profiling and real time ex vivo modelling of imatinib-resistant dermatofibrosarcoma protuberans with fibrosarcomatous transformation.Human cell · 2023Article
- Article
- Progressive insights into fibrosarcoma diagnosis and treatment: leveraging fusion genes for advancements.Frontiers in cell and developmental biology · 2023Review
- Uncovering novel mutational signatures byCell genomics · 2022Article
- Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment.Journal of clinical medicine · 2020Review
- The Role of Next-Generation Sequencing in Sarcomas: Evolution From Light Microscope to Molecular Microscope.Current oncology reports · 2017Review
- Dermatofibrosarcoma Protuberans.Current treatment options in oncology · 2017Review
- Early mutation bursts in colorectal tumors.PloS one · 2017Article
- Dermatofibrosarcoma protuberans: from translocation to targeted therapy.Cancer biology & medicine · 2015Review
- CDKN2A/p16 Loss Implicates CDK4 as a Therapeutic Target in Imatinib-Resistant Dermatofibrosarcoma Protuberans.Molecular cancer therapeutics · 2015Article
- Sunitinib for patients with locally advanced or distantly metastatic dermatofibrosarcoma protuberans but resistant to imatinib.International journal of clinical and experimental medicine · 2015Article
- Human ACAP2 is a homolog of C. elegans CNT-1 that promotes apoptosis in cancer cells.Cell cycle (Georgetown, Tex.) · 2015Article
- Neoadjuvant treatment of Dermatofibrosarcoma Protuberans of pancreas with Imatinib: case report and systematic review of literature.Clinical sarcoma research · 2014Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene. The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. Thus, blocking PDGFR receptor activation with imatinib has shown promising activity in the treatment of advanced and metastatic DFSP. Despite the success with targeted agents in cancers, acquired drug resistance eventually occurs. Here, we tried to identify potential drug resistance mechanisms against imatinib in a 46-year old female with DFSP who initially responded well to imatinib but suffered rapid disease progression. We performed whole-genome sequencing of both pre-treatment and post-treatment tumor tissue to identify the mutational events associated with imatinib resistance. No significant copy number alterations, insertion, and deletions were identified during imatinib treatment. Of note, we identified newly emerged 8 non-synonymous somatic mutations of the genes (ACAP2, CARD10, KIAA0556, PAAQR7, PPP1R39, SAFB2, STARD9, and ZFYVE9) in the imatinib-resistant tumor tissue. This study revealed diverse possible candidate mechanisms by which imatinib resistance to PDGFRB inhibition may arise in DFSP, and highlights the usefulness of whole-genome sequencing in identifying drug resistance mechanisms and in pursuing genome-directed, personalized anti-cancer therapy.
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