RESUMO
Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer. Comprehensive cancer genomic profiling (CGP) of his tumor revealed a likely pathogenic variant of MSH2, NM_000251.3:c.1741delA (p.I581Lfs*9), which was also present in his blood sample. The widespread use of CGP may reveal that RMS can be a rare manifestation of LS.
RESUMO
We report the case of a 12-year-old boy with a huge liver tumour 20 cm in diameter with multiple lung metastases. Six months after systemic chemotherapy was initiated, all tumours had disappeared with the exception of the liver tumour and a tiny lung tumour 2.5 mm in diameter. Fluoroscopy-assisted thoracoscopic resection of the pulmonary nodule was performed to evaluate whether viable tumour tissue remained in the lung lesion. Before moving the patient to the operating room, the nodule was marked by Lipiodol under CT fluoroscopic guidance with the patient under local anaesthesia. This procedure allowed correct visualisation of the area that should be resected.