AIMS: The assessment of thyroid nodules is a common clinical challenge. Fine-needle aspiration (FNA) is the standard pre-operative tool for thyroid nodule diagnosis. However, up to 30% of the samples are classified as indeterminate. This often leads to unnecessary surgery. In this study, we evaluated the added value of next-generation sequencing (NGS) for helping in the diagnosis of FNA samples. METHODS AND RESULTS: We analysed retrospectively 34 indeterminate FNA samples for which surgical resection was performed. DNA was obtained from cell blocks or from stained smears and subjected to NGS to analyse mutations in 50 genes. Mutations in BRAF, NRAS, KRAS and PTEN, that are known to be involved in thyroid cancer biology, were detected in seven FNA samples. The presence of a mutation in these genes was a strong indicator of cancer because five (71%) of the mutation-positive FNA samples had a malignant diagnosis after surgery. Moreover, there was only an 8% cancer risk in nodules with an indeterminate cytological diagnosis but with a negative molecular test. CONCLUSION: This study demonstrates that thyroid FNA can be analysed successfully by NGS. The detection of mutations known to be involved in thyroid cancer improves the sensitivity of thyroid FNA diagnosis.
AIMS: The assessment of thyroid nodules is a common clinical challenge. Fine-needle aspiration (FNA) is the standard pre-operative tool for thyroid nodule diagnosis. However, up to 30% of the samples are classified as indeterminate. This often leads to unnecessary surgery. In this study, we evaluated the added value of next-generation sequencing (NGS) for helping in the diagnosis of FNA samples. METHODS AND RESULTS: We analysed retrospectively 34 indeterminate FNA samples for which surgical resection was performed. DNA was obtained from cell blocks or from stained smears and subjected to NGS to analyse mutations in 50 genes. Mutations in BRAF, NRAS, KRAS and PTEN, that are known to be involved in thyroid cancer biology, were detected in seven FNA samples. The presence of a mutation in these genes was a strong indicator of cancer because five (71%) of the mutation-positive FNA samples had a malignant diagnosis after surgery. Moreover, there was only an 8% cancer risk in nodules with an indeterminate cytological diagnosis but with a negative molecular test. CONCLUSION: This study demonstrates that thyroid FNA can be analysed successfully by NGS. The detection of mutations known to be involved in thyroid cancer improves the sensitivity of thyroid FNA diagnosis.
Authors: J Duerinck; S Du Four; F Vandervorst; N D'Haene; M Le Mercier; A Michotte; A M Van Binst; H Everaert; I Salmon; F Bouttens; V Verschaeve; B Neyns Journal: J Neurooncol Date: 2016-03-02 Impact factor: 4.130
Authors: Esther Diana Rossi; Pietro Locantore; Carmine Bruno; Marco Dell'Aquila; Pietro Tralongo; Mariangela Curatolo; Luca Revelli; Marco Raffaelli; Luigi Maria Larocca; Liron Pantanowitz; Alfredo Pontecorvi Journal: Front Endocrinol (Lausanne) Date: 2022-05-12 Impact factor: 6.055
Authors: J Duerinck; S Du Four; F Bouttens; C Andre; V Verschaeve; F Van Fraeyenhove; C Chaskis; N D'Haene; M Le Mercier; A Rogiers; A Michotte; I Salmon; B Neyns Journal: J Neurooncol Date: 2017-10-07 Impact factor: 4.130
Authors: Nicky D'Haene; Marie Le Mercier; Nancy De Nève; Oriane Blanchard; Mélanie Delaunoy; Hakim El Housni; Barbara Dessars; Pierre Heimann; Myriam Remmelink; Pieter Demetter; Sabine Tejpar; Isabelle Salmon Journal: PLoS One Date: 2015-09-14 Impact factor: 3.240