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

    September 2020 in “ Acta Scientific Cancer Biology ”
    Revati Patil, Pradip Devhare, Ajay Srinivasan, Dadasaheb Akolkar, Darshana Patil, Vineet Datta, Ashwini Ghaisas, Chirantan Bose, S Somashekar, Jinumary John, Sanket Patil, Sachin Apurwa, Navin Srivastava, Rajan Datar
    TLDR Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
    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.
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