KRAS mutant tenosynovial giant cell tumor in a pediatric patient: a case report
Tenosynovial giant cell tumors (TSGCT) are a group of rare, benign soft tissue tumors with common histologic and cytogenetic features, with a median age of diagnosis being 47 years. Generally divided into localized and diffuse subtypes, TSGCTs are typically driven by overexpression of macrophage colony stimulating factor receptor-1 (CSF1R). Treatment of TSGCT is tumor resection, followed by radiation therapy in cases of incomplete resection. Even when the tumor is completely removed, recurrence rates can be as high as 30% in some anatomical locations. Here we report the identification of a previously undescribed KRAS p.G12D activating mutation within a pediatric TSGCT patient, who clinically presented with an enlarging right lower extremity mass pathologically consistent with TSGCT. The patient continues to be in remission three years after complete surgical removal. KRAS mutations are usually found in adult cancers, such as lung and pancreatic, as well as giant cell lesion of the jaw. This case demonstrates the utility of integrative clinical sequencing in identifying lesions with aggressive potential and aiding in complex diagnoses.