Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis.
Pol Arch Intern Med
; 129(11): 761-769, 2019 11 29.
Article
em En
| MEDLINE
| ID: mdl-31535668
ABSTRACT
INTRODUCTION:
Inconclusive cytologic results of thyroid fineneedle aspiration biopsy (FNAB) include atypia or follicular lesion of undetermined significance (FLUS) and follicular neoplasm or suspicious for follicular neoplasm (SFN).OBJECTIVES:
We aimed to assess the genetic background of indeterminate thyroid nodules and to identify new genetic pathways potentially involved in the development of follicular thyroid cancer. PATIENTS ANDMETHODS:
Genomic DNA was isolated from FNAB samples from 25 white patients (2 men; 23 women) diagnosed preoperatively with FLUS (n = 16) and SFN (n = 9). Nextgeneration sequencing (NGS) was performed. The results were compared with clinical data, including final postsurgical diagnoses.RESULTS:
The malignancy rate was 28%. KDR, RET, and TP53 gene mutations were most frequent in FLUS and SFN samples finally diagnosed as cancers, whereas alterations in RET, TP53, FLT3, APC, and PDGFRA predominated in benign tumors. KDR tended to be more common in malignant samples (75% vs 20%, P = 0.1). A total number of mutated genes was higher in patients with benign tumors (17 vs 11, P = 0.02), but there was no difference between groups in the mean number of mutations per patient (4.9 [range, 1-9]).CONCLUSIONS:
We showed that the heterogeneity in the genetic background of indeterminate thyroid nodules corresponds to their histopathologic diversity. The role of KDR as a possible malignancy marker needs to be confirmed. Glass slides with FNAB samples may constitute a reliable source of genetic material for NGS studies, providing a better insight into the molecular profile of thyroid nodules.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Neoplasias da Glândula Tireoide
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Nódulo da Glândula Tireoide
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Adenocarcinoma Folicular
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Sequenciamento de Nucleotídeos em Larga Escala
Tipo de estudo:
Diagnostic_studies
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Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article