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Ref Type
PMID (36053791)
Authors Hescot S, Masliah-Planchon J, du Rusquec P, Dupain C, Kamal M, Servois V, Bieche I
Title Significant response to pralsetinib in a medullary thyroid cancer harboring double RET variants of unknown significance.
Journal Vol Issue Date Pages Journal Short Title
European thyroid journal 11 5 2022 Oct 01 Eur Thyroid J
URL
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 L1016S missense unknown RET L1016S lies within the protein kinase domain of the Ret protein (UniProt.org). L1016S has been identified in the scientific literature (PMID: 36053791), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024).
RET V591_G607del deletion unknown RET V591_G607del results in the deletion of 17 amino acids in the extracellular domain of the Ret protein from amino acids 591 to 607 (UniProt.org). V591_G607del has been identified in the scientific literature (PMID: 36053791), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET V591_G607del RET L1016S medullary thyroid carcinoma predicted - sensitive Pralsetinib Case Reports/Case Series Actionable In a clinical case study, Gavreto (pralsetinib) treatment resulted in a partial response lasting more than 1 year in a patient with medullary thyroid carcinoma harboring RET V591_G607del and germline RET L1016S (PMID: 36053791). 36053791