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Ref Type Journal Article
PMID (34994633)
Authors Mweempwa A, Xu H, Vissers JHA, Tothill RW, Pattison AD, Fellowes AP, Thomas DM, Richardson G, Hicks RJ, Grimmond SM, Fox SB, Luen SJ, Desai J, Solomon BJ
Title Novel RET Fusion RET-SEPTIN9 Predicts Response to Selective RET Inhibition With Selpercatinib in Malignant Pheochromocytoma.
Journal JCO precision oncology
Vol 5
Date 2021 Nov
Abstract Text


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
RET SEPTIN9 RET - SEPTIN9 fusion unknown RET-SEPTIN9 results from the fusion of RET and SEPTIN9 (PMID: 34994633). RET-SEPTIN9 has been identified in malignant pheochromocytoma (PMID: 34994633), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2022).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET - SEPTIN9 malignant pheochromocytoma predicted - sensitive Selpercatinib Case Reports/Case Series Actionable In a clinical case study, Retevmo (selpercatinib) treatment resulted in a partial response with 46% reduction in lesions, which was ongoing at 23 weeks, in a patient with malignant pheochromocytoma harboring a RET-SEPTIN9 fusion (PMID: 34994633). 34994633