NF1gene inactivation acts as a tumor driver inRET/RAS-negative medullary thyroid carcinomas
Authors' conclusion
About 11% of our series of sporadic RET/RAS negative MTC harbor biallelic inactivation of NF1 suppressor gene also regardless neurofibromatosis status. According to our results, NF1 alterations should be searched in all RET/RAS negative MTC as possible driver. Moreover, this finding reduces the number of negative sporadic MTCs and may have important clinical implications in the management of these tumors.
Study context
- Population
- Sporadic RET/RAS negative MTC cases
- Participants
- 18 cases
- Outcome
- Presence of NF1 alterations in RET/RAS negative MTC
Methodological detailsNGS of tumoral and blood DNA with a custom panel including the entire NF1 coding region; RT-PCR of transcripts; Loss of heterozygosity (LOH) by Multiplex Ligation-dependent Probe Amplification
- NGS of tumoral and blood DNA with a custom panel including the entire NF1 coding region; RT-PCR of transcripts; LOH by Multiplex Ligation-dependent Probe Amplification
Main finding
As reported in the abstract
Bi-allelic NF1 inactivation
Cases with bi-allelic inactivation of NF1
2
Prevalence among RET/RAS negative cases
about 11%
Original publication
NF1gene inactivation acts as a tumor driver inRET/RAS-negative medullary thyroid carcinomas. Eur J Endocrinol. Published 22 May 2023. doi:10.
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