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ea0099oc7.6 | Oral Communications 7: Endocrine-related Cancer | ECE2024

Whole-exome sequencing of atypical parathyroid tumors identifies novel genes and mutations in common with benign and malignant parathyroid tumors

Pardi Elena , Poma Marcello , Torregrossa Liborio , Pierotti Laura , Borsari Simona , Della Valentina Simone , Marcocci Claudio , Cetani Filomena

Atypical parathyroid tumors (APT) represent parathyroid neoplasms characterized by an uncertain malignant potential due to the presence of histological features typical of parathyroid carcinomas (PC), without infiltration of surrounding tissues. The diagnosis of APT can be very challenging. Surgery is often curative but patients with APT may experience recurrence. Although the molecular landscape of benign parathyroid adenoma (PA) and PC has been explored, only few cases of AP...

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ea0099p88 | Endocrine-Related Cancer | ECE2024

The BRAF K601E mutation in thyroid tumors: One alteration with a dual clinical significance

Macerola Elisabetta , Vignali Paola , Sparavelli Rebecca , Poma Marcello , Proietti Agnese , Torregrossa Liborio , Santini Ferruccio , Elisei Rossella , Materazzi Gabriele , Basolo Fulvio , Ugolini Clara

Background: BRAFK601E mutation is a class 2 oncogenic BRAF mutation which causes constitutive activation of MAPK pathway functioning as RAS-independent activated dimers. In thyroid cancer, the BRAFK601E is more rare than the BRAFV600E, and it has been mostly associated to clinically indolent follicular architecture neoplasms. This is a mono-institutional study aimed at evaluating the frequency and clinical ro...

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Endocrine Abstracts

Whole-exome sequencing of atypical parathyroid tumors identifies novel genes and mutations in common with benign and malignant parathyroid tumors

The BRAF K601E mutation in thyroid tumors: One alteration with a dual clinical significance

BiosciAbstracts