Preoperative Identification of Medullary Thyroid Carcinoma (MTC): Clinical Validation of the Afirma MTC RNA-Sequencing Classifier.
Thyroid
; 32(9): 1069-1076, 2022 09.
Article
en En
| MEDLINE
| ID: mdl-35793115
ABSTRACT
Background:
Cytopathological evaluation of thyroid fine-needle aspiration biopsy (FNAB) specimens can fail to raise preoperative suspicion of medullary thyroid carcinoma (MTC). The Afirma RNA-sequencing MTC classifier identifies MTC among FNA samples that are cytologically indeterminate, suspicious, or malignant (Bethesda categories III-VI). In this study we report the development and clinical performance of this MTC classifier.Methods:
Algorithm training was performed with a set of 483 FNAB specimens (21 MTC and 462 non-MTC). A support vector machine classifier was developed using 108 differentially expressed genes, which includes the 5 genes in the prior Afirma microarray-based MTC cassette.Results:
The final MTC classifier was blindly tested on 211 preoperative FNAB specimens with subsequent surgical pathology, including 21 MTC and 190 non-MTC specimens from benign and malignant thyroid nodules independent from those used in training. The classifier had 100% sensitivity (21/21 MTC FNAB specimens correctly called positive; 95% confidence interval [CI] = 83.9-100%) and 100% specificity (190/190 non-MTC FNAs correctly called negative; CI = 98.1-100%). All positive samples had pathological confirmation of MTC, while all negative samples were negative for MTC on surgical pathology.Conclusions:
The RNA-sequencing MTC classifier accurately identified MTC from preoperative thyroid nodule FNAB specimens in an independent validation cohort. This identification may facilitate an MTC-specific preoperative evaluation and resulting treatment.Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Neoplasias de la Tiroides
/
Nódulo Tiroideo
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
Límite:
Humans
Idioma:
En
Revista:
Thyroid
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos