Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype–Genotype Based on Next-Generation Sequencing (Variants of APC, MSH6, and CACNA1S Genes)
gene (c.2707C>T, p.Arg903*). The first two are currently classified as variants of uncertain significance. Whether the co-presence of a triple mutation may change the clinical picture and the life-long outcomes across reciprocal influence is still an open matter. Further research will point out the clinical implications of this genotype-phenotype association, which, to our best knowledge, has not been previously reported.
Authors
- Mara Carşote (ORCID: https://orcid.org/0000-0001-8585-3835)
- Emi Marinela Preda (ORCID: https://orcid.org/0009-0007-9991-7052)
- Sorina Schipor (ORCID: https://orcid.org/0000-0002-4886-2174)
- Dana Cristina Terzea
- Dana Manda (ORCID: https://orcid.org/0000-0001-9190-837X)
- Ana-Maria Gheorghe (ORCID: https://orcid.org/0009-0004-5970-3701)
- Oana-Claudia Sima
- Mihai Costăchescu
- Anda Dumitrașcu
- Andrei Muresan
Institutions
- Carol Davila University of Medicine and Pharmacy (RO)
- University of Agronomic Sciences and Veterinary Medicine of Bucharest (RO)
- Emergency University (US)
- Institutul Național de Endocrinologie C.I. Parhon (RO)
Publication Details
- Journal
- Diagnostics
- Published
- 2026-04-16
- DOI
- https://doi.org/10.3390/diagnostics16081185
- Primary Topic
- Thyroid Cancer Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00