RESUMEN
Squamous cell carcinoma of unknown primary origin in the pelvis is rare. We report a case of a 64-year-old woman with a large osteolytic squamous cell carcinoma of unknown primary origin in the pelvis that presented with p16 expression. The patient presented with leg pain and swelling and was admitted to our hospital. Computed tomography scans of the pelvis revealed a large osteolytic tumor. A computed tomography-guided needle biopsy was performed, and pathological examination revealed neoplastic cells with metastatic squamous cell carcinoma presenting with p16 expression. Despite a whole-body examination, tumor origin remained undetected. The patient was treated for this metastatic squamous cell carcinoma of unknown primary using palliative radiotherapy for hip pain and nivolumab. Remarkable reduction in the tumor marker levels and tumor size were obtained after therapy. Finally, partial remission and progression-free survival for more than 7 months were achieved. In conclusion, we experienced a rare case with a large p16-positive squamous cell carcinoma of unknown primary in pelvis, which responded well to radiotherapy and nivolumab.
RESUMEN
Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are rare undifferentiated thoracic malignancies with poor prognosis. They predominantly affect young men who are heavy smokers. Recently, the category of SMARCA4-deficiency-related malignancy has been expanded to include extra-thoracic sites, such as the paranasal sinuses, gastrointestinal tract, ovary, and uterus. We report a rare case of SMARCA4-deficient tumors in the adrenal gland and small intestines. SMARCA4-deficient tumors should be included in the differential diagnosis when multiple large masses with heterogeneous contrast effect and strong accumulation are seen in cancers of unknown primary on 18F-fluorodeoxyglucose (FDG) positron emission tomography with computed tomography (PET/CT).
RESUMEN
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare, chronic autoinflammatory disorder that can present with a constellation of cutaneous and osteoarticular symptoms. Osteodestructive lesions are not pathognomonic, whereas hyperostosis and osteitis are the most prominent imaging findings. We report the case of a man with osteolytic changes of the lumbar vertebra and a history of palmoplantar pustulosis. Biopsy revealed no neoplasm, suggesting SAPHO syndrome. Our case demonstrates that knowledge of atypical radiologic findings is necessary for the diagnosis of SAPHO syndrome.