Patients with SMARCA4-deficient thoracic sarcoma and severe skeletal-related events
| Autor: | Takako Inoue, Kazumi Nishino, Hanako Kuhara, Shin-ichi Nakatsuka, Fumio Imamura, Kei Kunimasa, Toru Kumagai, Motohiro Tamiya, Madoka Kimura, Kazuko Sakai, Kazuto Nishio, Harumi Nakamura |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Pulmonary and Respiratory Medicine Oncology Cancer Research medicine.medical_specialty Skeletal related events Disease Bone and Bones 03 medical and health sciences 0302 clinical medicine Internal medicine Biomarkers Tumor medicine Humans Lung Loss function business.industry DNA Helicases Clinical course High-Throughput Nucleotide Sequencing Nuclear Proteins Cancer Sarcoma Middle Aged Thoracic Neoplasms Prognosis medicine.disease Immunohistochemistry 030104 developmental biology 030220 oncology & carcinogenesis Mutation SMARCA4 Bone Diseases business Transcription Factors |
| Zdroj: | Lung Cancer. 132:59-64 |
| ISSN: | 0169-5002 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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