Genetic origin of multifocal sporadic medullary thyroid cancer and C-cell hyperplasia
Authors' conclusion
Our data demonstrate that multiple foci of sMTC share the same driver mutation as the main tumor and support the hypothesis that they are intrathyroidal metastases. Most of the CCH associated with sMTC should not be considered a preneoplastic lesion as they are negative for the mutation of the main sMTC.
Study context
- Population
- Multifocal sporadic MTC (sporadic medullary thyroid cancer (sMTC)) and sMTC with associated C-cell hyperplasia (CCH); 106 tumor foci and 25 CCH areas38 multifocal sMTCs
- Outcome
- Mutation profile of different tumor foci of multifocal sMTC (intra-organ metastatic dissemination vs independent tumors)
Methodological detailsMutational status analysed by Next-Generation Sequencing and/or droplet-digital PCR
- Mutational status analysed by Next-Generation Sequencing and/or droplet-digital PCR
Main finding
As reported in the abstract
Mutation profile of multifocal sMTC
- Somatic mutation in main tumor
- 31/38 (81.6%)
- Negative for mutation
- 7/38 (18.4%)
- Single mutation among mutated sMTCs
- 30/31 (96.8%)
- 3 different mutations
- 1 case (3.2%)
- Same mutation profile in main tumor and all secondary foci
- 28/31 (90%)
- Discordant cases
- 3
Further findings
Mutation in sMTC with associated CCH
- Somatic mutation in main tumor
- 11/15 (73.4%)
- Negative
- 4 (26.6%)
- Same mutation in main tumor and CCH
- 1/11 (9%)
Original publication
Genetic origin of multifocal sporadic medullary thyroid cancer and C-cell hyperplasia. Eur J Endocrinol. Published 27 May 2025. doi:10.
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