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Diagnosis of a SMARCA4 ‐deficient undifferentiated tumor using multigene panel testing: A case report
KEY CLINICAL MESSAGE: SMARCA4‐deficient thoracic carcinoma is a malignant tumor that may present as cancer of unknown primary. This tumor is refractory and requires a novel approach. In addition to identifying therapeutic targets, multigene panel testing can reveal novel genetic mutations, leading t...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465722/ https://www.ncbi.nlm.nih.gov/pubmed/37655132 http://dx.doi.org/10.1002/ccr3.7854 |
Sumario: | KEY CLINICAL MESSAGE: SMARCA4‐deficient thoracic carcinoma is a malignant tumor that may present as cancer of unknown primary. This tumor is refractory and requires a novel approach. In addition to identifying therapeutic targets, multigene panel testing can reveal novel genetic mutations, leading to more pathologically relevant diagnoses and appropriate tumor care. ABSTRACT: SMARCA4‐deficient undifferentiated tumors are characterized by SMARCA4 inactivation. We present a case of a 74‐year‐old man with an undifferentiated tumor and a novel SMARCA4 mutation detected using multigene panel testing. The tumor was multiagent and refractory to three chemotherapy lines. The test results helped guide appropriate medical management. |
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