 |
Vol.60 No.4 contents | Japanese/English |
 | Full Text of PDF (2985K) Article in Japanese |
- Case Report -
Optimization of Both the Diagnosis and Therapeutic Strategy Using Panel Testing for a Case of Pleural Metastasis of Sinus Carcinoma
Takahiro Ando1, Naoki Nishiyama1, Takayuki Honda1, Susumu Kirimura2, Rie Sakakibara1, Takahiro Mitsumura1, Kohki Tohyama3, Yoshihito Kano3, Sadakatsu Ikeda3, Yasunari Miyazaki11Department of Respiratory Medicine, 2Department of Pathology, 3Department of Precision Cancer Medicine, Center for Innovative Cancer Treatment, Tokyo Medical and Dental University, Japan
Backgroun. Recent approaches by precision medicine using panel testing enables oncologists to consider additional therapeutic strategies based on genomic information. However, there have so far been few reports on the potential utility of panel testing in respect to diagnostic procedures. Case. A 51-year-old man underwent total right sinus resection, reconstruction and adjuvant chemoradiotherapy for his right sinus squamous cell carcinoma (cT4N1M0 stage IV). Eight months later follow-up computed tomography revealed a newly appeared pleural tumor in his left thoracic cavity. A pathological review of the left pleura specimens obtained by thoracoscopy suggested malignant mesothelioma and he was therefore transferred to our hospital. A re-review of the pathological and immunohistochemical features of the specimens showed poorly differentiated sarcomatous tissue and negative staining for calretinin and D2-40, not suggesting malignant mesothelioma, and thus resulted in no pathologically confirmed diagnosis. Panel testing using FoundationOneⓇCDx and FoundationOneⓇHEME were performed to develop a therapeutic strategy for both the head and neck tissue and the pleural tumor in spite of lack of their morphological similarity. Panel testing showed gene mutations such as NOTCH1 (c.3447C> A, C1149*), which is a frequently mutated gene among head and neck squamous cell carcinoma, were shared in both the head and neck tissue and the pleural tumor, suggesting that the pleural tumor was metastasis of the primary head and neck squamous cell carcinoma. Panel testing also showed a high tumor mutation burden in both tumors. Thereafter, Nivolumab was administered as a second-line pharmacotherapy and it demonstrated prominent tumor shrinkage. Conclusion. In this case, additional genomic information obtained by panel testing was effective for both making an accurate diagnosis and for also selecting the optimal pharmacotherapy.
key words: Panel testing, Pleural tumor, Head and neck squamous cell carcinoma, Tumor mutation burden, Immune checkpoint inhibitors
Received: March 28, 2020
Accepted: May 19, 2020
JJLC 60 (4): 364-370, 2020
