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 to...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-09-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.7854 |
| _version_ | 1797655153707319296 |
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| author | Yoshiaki Marumo Takashi Yoshida Kenji Ina Naohiro Matsunaga Yuki Furukawa Ayumi Kamiya Takae Kataoka Satoshi Kayukawa |
| author_facet | Yoshiaki Marumo Takashi Yoshida Kenji Ina Naohiro Matsunaga Yuki Furukawa Ayumi Kamiya Takae Kataoka Satoshi Kayukawa |
| author_sort | Yoshiaki Marumo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T17:10:01Z |
| format | Article |
| id | doaj.art-1e4f7ca5b3b040fcb2042bac839133f7 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-11T17:10:01Z |
| publishDate | 2023-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-1e4f7ca5b3b040fcb2042bac839133f72023-10-20T06:16:21ZengWileyClinical Case Reports2050-09042023-09-01119n/an/a10.1002/ccr3.7854Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case reportYoshiaki Marumo0Takashi Yoshida1Kenji Ina2Naohiro Matsunaga3Yuki Furukawa4Ayumi Kamiya5Takae Kataoka6Satoshi Kayukawa7Department of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanDepartment of Clinical Oncology Nagoya Memorial Hospital Nagoya JapanKey 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.https://doi.org/10.1002/ccr3.7854immune checkpoint inhibitormultigene panel testingSMARCA4‐deficient undifferentiated tumortumor of unknown origin |
| spellingShingle | Yoshiaki Marumo Takashi Yoshida Kenji Ina Naohiro Matsunaga Yuki Furukawa Ayumi Kamiya Takae Kataoka Satoshi Kayukawa Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report Clinical Case Reports immune checkpoint inhibitor multigene panel testing SMARCA4‐deficient undifferentiated tumor tumor of unknown origin |
| title | Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report |
| title_full | Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report |
| title_fullStr | Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report |
| title_full_unstemmed | Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report |
| title_short | Diagnosis of a SMARCA4‐deficient undifferentiated tumor using multigene panel testing: A case report |
| title_sort | diagnosis of a smarca4 deficient undifferentiated tumor using multigene panel testing a case report |
| topic | immune checkpoint inhibitor multigene panel testing SMARCA4‐deficient undifferentiated tumor tumor of unknown origin |
| url | https://doi.org/10.1002/ccr3.7854 |
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