Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma
Authors' conclusion
Multi-gene panel testing of preoperative FNAB samples effectively discriminates clonal relationships in MPTC, revealing distinct molecular profiles between ITM and IP. The high prevalence of BRAF V600E mutations and frequent clonal homogeneity underscore the necessity of comprehensive genetic profiling to guide personalized management. Routine multi-lesion sampling is advocated for optimizing risk stratification and surgical decision-making.
Study context
- Population
- Patients with multifocal PTC (multifocal papillary thyroid carcinoma (MPTC)), lesions pathologically confirmed as PTC postoperatively; 37 females, 13 males; mean age 42.64 ± 11.12 years58 enrolled, 8 excluded
- Participants
- 50 patients
- Comparison
- Intrathyroidal metastasis vs Independent primary tumors vs Uncertain origin
- Intrathyroidal metastasisn = 32
- Independent primary tumorsn = 9
- Uncertain originn = 9
- Outcome
- Proportion of independent primary tumors vs intrathyroidal metastases in MPTC
Methodological detailsconsecutive enrolment, multi-gene panel testing of preoperative fine-needle aspiration biopsy (FNAB) samples (26 thyroid-related genes), two lesions per case
- Consecutive enrolment
- Multi-gene panel testing of preoperative FNAB samples (26 thyroid-related genes)
- Two lesions per case
Performance
As reported in the abstract
Clonal relationship of paired lesions
Further findings
Mutation prevalence across 100 FNAB samples
- BRAF V600E
- 84.0%, 84/100
- DICER1
- 7.0%
- PTEN
- 6.0%
- RET
- 4.0%
- Total mutations / gene fusions / gene amplifications
- 128 / 4 / 3
Completely different mutations, ipsilateral vs bilateral lesions
- Incidence differed between ipsilateral and bilateral lesions
- P = 0.030
BRAF V600E vs clinical characteristics
- No significant correlation with tumor size, multifocality, capsular invasion or lymph node metastasis
- P > 0.05
Tumor characteristics
- Median tumor diameter
- 12.5 (IQR: 7.6, 20.0) mm
- Papillary thyroid microcarcinoma
- 38.0% (19/50)
Original publication
Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma. Clin Endocrinol (Oxf). Published 15 April 2025. doi:10.
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