| Autor: |
Yoshiaki Marumo, Takashi Yoshida, Kenji Ina, Naohiro Matsunaga, Yuki Furukawa, Ayumi Kamiya, Takae Kataoka, Satoshi Kayukawa |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2050-0904 |
| DOI: |
10.1002/ccr3.7854 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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