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Ref Type
PMID (32923911)
Authors Ortiz MV, Gerdemann U, Raju SG, Henry D, Smith S, Rothenberg SM, Cox MC, Proust S, Bender JG, Frazier AL, Anderson P, Pappo AS
Title Activity of the Highly Specific RET Inhibitor Selpercatinib (LOXO-292) in Pediatric Patients With Tumors Harboring RET Gene Alterations.
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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 D378_G385delinsE indel unknown RET D378_G385delinsE results in a deletion of eight amino acids within the extracellular domain of the Ret protein from amino acid 378 to 385, combined with the insertion of a glutamic acid (E) at the same location (UniProt.org). D378_G385delinsE has been identified in the scientific literature (PMID: 32923911), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET M918T medullary thyroid carcinoma sensitive Selpercatinib Case Reports/Case Series Actionable In a clinical case study, a pediatric patient with previously treated metastatic medullary thyroid cancer harboring germ line RET M918T mutation achieved stable disease and remained on treatment after 5.2 months with Retevmo (selpercatinib) therapy (PMID: 32923911). 32923911
RET D378_G385delinsE medullary thyroid carcinoma predicted - sensitive Selpercatinib Case Reports/Case Series Actionable In a clinical case study, a pediatric patient with heavily pretreated medullary thyroid cancer harboring RET D378_G385delinsE achieved a partial response after 8 weeks of Retevmo (selpercatinib) treatment, with an 86% reduction in tumor size after 40 weeks, and remained progression-free after 27 months (PMID: 32923911; NCT03157128). 32923911