Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment

A 45-year-old female with recurrent pilomatrical carcinoma, a rare and aggressive hair follicle malignancy, underwent personalized treatment guided by Encyclopedic Tumor Analysis (ETA). Molecular analysis revealed a novel EIF3E-RSPO2 gene rearrangement, SETD2 mutation, and overexpression of VEGFA and RET genes. These findings, combined with chemo-sensitivity assays, informed a tailored off-label therapy regimen that successfully managed disease progression and achieved durable regression of both primary and metastatic lesions, offering an effective alternative to standard treatments which were ineffective.