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H. Shiraishi
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P1.08 - Poster Session/ Thymoma, Mesothelioma and Other Thoracic Malignancies (ID 224)
- Event: WCLC 2015
- Type: Poster
- Track: Thymoma, Mesothelioma and Other Thoracic Malignancies
- Presentations: 1
- Moderators:
- Coordinates: 9/07/2015, 09:30 - 17:00, Exhibit Hall (Hall B+C)
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P1.08-026 - First Case of SMARCB1(INI1)- Deficient Squamous Cell Carcinoma of the Pleura (ID 978)
09:30 - 09:30 | Author(s): H. Shiraishi
- Abstract
Background:
SMARCB1(INI1) is a tumor-suppressor gene located at 22q11.2. It is considered an integral component of the chromatin remodeling complex SW1/SNF. Loss of SMARCB1 expression has been reported to be associated with atypical teratoid/rhabdoid tumors and malignant rhabdoid tumors of the kidney and extrarenal tissues. In addition, sinonasal basaloid carcinomas and neoplasms arising from the gastrointestinal tract, pancreas and uterus with SMARCB1 deficiency have been reported.To date, however, SMARCB1-deficient carcinoma of the pleura has not been reported.
Methods:
We report the first case of SMARCB1-deficient squamous cell carcinoma of the pleura in a patient, and describe the clinical course from initial presentation to diagnosis with pathological findings.
Results:
The case was a 33-year-old female never smoker with no previous medical or family history of malignant disease. She visited a previous hospital with a one-month history of worsening cough and dyspnea. Chest X-ray and computed tomography (CT) showed left pleural tumors with a large amount of pleural effusion. She underwent the diagnostic thoracoscopy to obtain sufficient tumor tissue from the parietal pleura. Systemic work-up including CT identified no other lesions apart from those in the left thoracic cavity. Pathological diagnosis in the previous hospital was squamous cell carcinoma of the pleura. She received six cycles of cisplatin plus gemcitabine therapy and achieved stable disease an overall best response. After progression, she transferred to our institution for expected further treatment. Although she received TS-1 therapy as second-line treatment, her disease progressed rapidly with worsening chest pain and dyspnea, and she died at 10 months after diagnosis. On pathological review of formalin-fixed, paraffin-embedded tissues of parietal pleura obtained in the previous hospital, primary tumors were composed of morphologically poorly differentiated cancer cells with characteristics of squamous cell carcinoma. Tumor cells were completely negative for INI1 protein expression by immunohistochemistry. Malignant pleural mesothelioma, thymic carcinoma and NUT midline carcinoma were ruled out. Claudin4 and MOC31 were positive, and C-kit and NUT were negative by immunohistochemistry suggesting that the tumor was primary squamous cell carcinoma of the pleura with SMARCB1 deficiency. Genome analysis using next-generation sequence data revealed no oncogene mutations, such as EGFR mutation, ALK, RET or ROS1 rearrangement.
Conclusion:
To our knowledge, this is the first report of SMARCB1-deficient squamous cell carcinoma of pleura. The tumor was highly aggressive and carried a poor prognosis with short survival. The existence of other SMARCB1- deficient tumors is likely, such as atypical teratoid/rhabdoid tumors and malignant rhabdoid tumors of the kidney and extrarenal tissues. The clinical features and treatments of this tumor are not clear, and additional cases wiii assist the establishment of treatments and improve the poor prognosis.
