Kei Kunimasa1, Harumi Nakamura2, Kazuko Sakai3, Motohiro Tamiya4, Madoka Kimura4, Takako Inoue4, Kazumi Nishino4, Hanako Kuhara4, Shin-Ichi Nakatsuka2, Kazuto Nishio3, Fumio Imamura5, Toru Kumagai4. 1. Department of Thoracic Oncology, Osaka International Cancer Institute, 3-1-69 Otemae Chuoku, Osaka City, Japan. Electronic address: kunimasa-ke@mc.pref.osaka.jp. 2. Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, 3-1-69 Otemae Chuoku, Osaka City, Japan. 3. Department of Genome Biology, Kindai University Faculty of Medicine, Osaka-Sayama, Osaka, Japan. 4. Department of Thoracic Oncology, Osaka International Cancer Institute, 3-1-69 Otemae Chuoku, Osaka City, Japan. 5. Department of Clinical Oncology, Osaka International Cancer Institute, 3-1-69 Otemae Chuoku, Osaka City, Japan.
Abstract
OBJECTIVES: SMARCA4-deficient thoracic sarcoma(DTS) is a recently identified new entity of thoracic malignancies characterized by inactivation of SMARCA4. Patients with SMARCA4-DTS have a particulary aggresive clinical course and no effective treatments. However, the detailed clinical features of SMARCA4-DTS remain unclear. Here, we report the clinical courses and molecular profiles of two cases of SMARCA4-DTS. MATERIALS AND METHODS: We experienced strikingly similar two patients of SMARCA4-DTS. The clinicopathologic features were reviewed, and detailed immunohistochemical and comprehensive cancer panel analysis with next generation sequencing confirmed the diagnosis. RESULTS: Our cases had many clinical and radiological observations characteristic of SMARCA4-DTS in common. Immunohistochemical staing showed complete loss of SMARCA4 in tumor cells. Loss of function mutations were detected in SMARCA4. We found that severe SREs comprise a new significant clinical feature of SMARCA4-DTS. CONCLUSION: Integrated clinico-radiologic-pathologic-genetic diagnosis is essential for SMARCA4-DTS and physicians should pay attention to severe SREs during the clinical course of this disease.
OBJECTIVES:SMARCA4-deficient thoracic sarcoma(DTS) is a recently identified new entity of thoracic malignancies characterized by inactivation of SMARCA4. Patients with SMARCA4-DTS have a particulary aggresive clinical course and no effective treatments. However, the detailed clinical features of SMARCA4-DTS remain unclear. Here, we report the clinical courses and molecular profiles of two cases of SMARCA4-DTS. MATERIALS AND METHODS: We experienced strikingly similar two patients of SMARCA4-DTS. The clinicopathologic features were reviewed, and detailed immunohistochemical and comprehensive cancer panel analysis with next generation sequencing confirmed the diagnosis. RESULTS: Our cases had many clinical and radiological observations characteristic of SMARCA4-DTS in common. Immunohistochemical staing showed complete loss of SMARCA4 in tumor cells. Loss of function mutations were detected in SMARCA4. We found that severe SREs comprise a new significant clinical feature of SMARCA4-DTS. CONCLUSION: Integrated clinico-radiologic-pathologic-genetic diagnosis is essential for SMARCA4-DTS and physicians should pay attention to severe SREs during the clinical course of this disease.
Authors: Natasha Rekhtman; Joseph Montecalvo; Jason C Chang; Deepu Alex; Ryan N Ptashkin; Ni Ai; Jennifer L Sauter; Brie Kezlarian; Achim Jungbluth; Patrice Desmeules; Amanda Beras; Justin A Bishop; Andrew J Plodkowski; Mrinal M Gounder; Adam J Schoenfeld; Azadeh Namakydoust; Bob T Li; Charles M Rudin; Gregory J Riely; David R Jones; Marc Ladanyi; William D Travis Journal: J Thorac Oncol Date: 2019-11-18 Impact factor: 15.609