Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib
| Autor: | Candace S. Johnson, Angela Omilian, Jianmin Wang, Qiang Hu, Song Liu, David E. Nowak, Karen Head, Kilian E. Salerno, Blake Burgher, Biao Liu, Andrew J. Fabiano, Antonios Papanicolau-Sengos, Richard T. Cheney, Lei Wei, Christopher Darlak, Wiam Bshara, Kiersten Marie Miles, John M. Kane, Mitsuko Murakami, Mihai Merzianu, Carl Morrison, Donald L. Trump, Lu Liu, Nikhil I. Khushalani, Michael Bianchi, Jeffrey M. Conroy, Maochun Qin, Jacob Conroy, Sean T. Glenn, Chetasi Talati |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Research Report
Pathology medicine.medical_specialty Soft Tissue Neoplasm medicine.disease_cause Receptor tyrosine kinase law.invention Pazopanib 03 medical and health sciences 0302 clinical medicine law medicine Malignant Granular Cell Tumor 030304 developmental biology Whole genome sequencing 0303 health sciences Mutation biology pharyngeal neoplasm General Medicine 3. Good health Pharyngeal Neoplasm 030220 oncology & carcinogenesis biology.protein Cancer research Suppressor medicine.drug |
| Zdroj: | Cold Spring Harbor Molecular Case Studies |
| ISSN: | 2373-2873 2373-2865 |
| Popis: | Granular cell tumors are an uncommon soft tissue neoplasm. Malignant granular cell tumors comprise 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. |
| Databáze: | OpenAIRE |
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