Macrofollicular variant of follicular thyroid carcinoma: a rare underappreciated pitfall in the diagnosis of thyroid carcinoma
| Autor: | Amedeo Sciarra, Mounir Trimech, Magali Gremaud, Marc Pusztaszeri, Gerasimos P. Sykiotis, Edoardo Missiaglia, Massimo Bongiovanni, Vilma Salvatori Chappuis, Claudio De Vito, Bettina Bisig, William D. Foulkes, Stefano La Rosa |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Thyroid nodules
Capsular Invasion Adult Ribonuclease III Pathology medicine.medical_specialty Endocrinology Diabetes and Metabolism medicine.medical_treatment Colonic Polyps/pathology/surgery Thyroid Gland 030209 endocrinology & metabolism ddc:616.07 thyroid Thyroid carcinoma DEAD-box RNA Helicases 03 medical and health sciences 0302 clinical medicine Endocrinology Adenocarcinoma Follicular medicine Humans Nuclear atypia Thyroid Neoplasms Adenoma/pathology business.industry Thyroid Proto-Oncogene Proteins c-ret Thyroidectomy Nodule (medicine) Histology Middle Aged medicine.disease follicular carcinoma PPAR gamma macrofollicular variant NGS PPARG and RET rearrangements medicine.anatomical_structure 030220 oncology & carcinogenesis Female medicine.symptom business |
| Zdroj: | Thyroid, Vol. 30, No 1 (2020) pp. 72-80 Europe PubMed Central |
| ISSN: | 1050-7256 |
| Popis: | Background: Follicular-patterned thyroid nodules predominantly composed of macrofollicular structures without nuclear atypia are generally regarded as benign (i.e., hyperplastic nodules or follicular adenomas). In line with this concept, fine-needle aspiration cytology (FNAC) also assigns a benign connotation to the presence of macrofollicular structures, unless thyrocytes present papillary thyroid carcinoma (PTC)-related nuclear features that raise the possibility of a macrofollicular variant of PTC. However, cases showing macrofollicular architecture, capsular invasion, and no PTC features can also be observed. Methods: We describe the clinical, cytological, histological, and molecular genetic features of four cases of encapsulated follicular neoplasms that presented histologically with a predominant (>70%) macrofollicular architecture, but which also showed clear signs of capsular invasion, and thus were classified as macrofollicular variant of follicular thyroid carcinoma (MV-FTC). Results: Cytologically, macrofollicular structures were identified in all cases, leading to a benign FNAC diagnosis in three of the four cases. Due to increasing nodule size, thyroidectomy was performed in all cases. Histology showed focal and limited capsular invasion, without vascular invasion. Next-generation sequencing (custom 394 gene panel) of each tumor compared with matched normal DNA revealed a total of 7 somatic variants, including dual (likely biallelic) mutations in the DICER1 gene in 2 patients. The clinical outcome was excellent in all cases. Conclusions: Similar to the classical minimally invasive follicular thyroid carcinoma, MV-FTC appears to behave indolently. MV-FTC has a high rate of false-negative FNAC results, but MV-FTC is very rare ( |
| Databáze: | OpenAIRE |
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