ETA2023 Poster Presentations Translational 2 (9 abstracts)
Next-generation-sequencing on fine needle aspirates in neck recurrence of thyroid cancers
Helene Theodon 1 , Camille Buffet 2 , Erell Guillerm 3 , Johanna Wasserman 1 , Gabrielle Deniziaut 1 , Loic Jaffrelot 1 , Jérome Denis 1 , Nathalie Chereau 4 , Claude Bigorgne 1 , Wiame Potonnier 1 , Florence Coulet 5 & Laurence Leenhardt 6
1Pitié-Salpêtrière Hospital; 2Pitié Salpêtrière Hospital, Hôpitaux Universitaires Pitié Salpêtrière, Thyroid and Endocrine Tumor Unit, Paris, France; 3Pitié-Salpêtrière Hospital, France; 4Pitie Salpetriere, Endocrine Surgery, Paris, France; 5Assistance Publique Hôpitaux de Paris, Sorbonne University, Genetics Department, Paris, France; 6Pitié Hospital, Sorbonne University, Chu Pitié-Salpêtrière, Thyroid and Endocrine Tumors, Paris, France
Objectives: Tumor molecular genotyping plays a key role in improving the management of advanced thyroid cancers. Molecular tests are classically performed on Formalin-Fixed Paraffin-Embedded (FFPE) carcinoma tissue. However alternative molecular testing strategies are needed when FFPE tumoral tissue is unavailable. The objective of our study was to retrospectively assess the performance of targeted DNA and RNA-based Next Generation Sequencing (NGS) on the fine needle aspirate from thyroid cancer cervical recurrences to determine if this strategy is efficient in clinical practice.
Design/Methods: A retrospective study of 33 patients who had had DNA and/or RNA-based NGS on neck ultrasound (US)-guided fine needle aspirates of cervical thyroid cancer recurrences in our Department from July 2019 to September 2022.
Results: In total, 34 DNA and 32 RNA-based NGS analyses were performed. Out of the 34 DNA-based NGS performed, 27 (79%) were conclusive allowing the identification of an oncogenic driver for 18 patients (53%). The most common mutation (n =13) was BRAF c.1799T>A. Out of the 32 RNA-based NGS performed, 26 were interpretable (81%) and no gene fusion was found. The identification of a BRAFV600E mutation was decisive for one patient in our series, who was prescribed dabrafenib and trametinib.
Conclusions: NGS performed on fine needle aspirates of neck lymph node metastases enabled the identification of an oncogenic driver alteration in 53% of the cases in our series of advanced thyroid cancer patients and could significantly alter patient management.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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