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NTRK rearrangements represent a very rare genomic abnormality among all cancers, but can be detected in thyroid cancer with a non-negligible frequency of 2%. Dramatic clinical responses to therapies targeting… Click to show full abstract
NTRK rearrangements represent a very rare genomic abnormality among all cancers, but can be detected in thyroid cancer with a non-negligible frequency of 2%. Dramatic clinical responses to therapies targeting NTRK chimeric proteins are now well described in the literature. SQSTM1-NTRK1 fusions have not yet been described in a full clinical case report : we report a patient with a papillary thyroid carcinoma harboring this unique rearrangement, with an impressive clinical and radiologic response to larotrectinib, a highly specific inhibitor.
Journal Title: European journal of endocrinology
Year Published: 2022
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