ArticleVirchows Archiv : an international journal of pathology2014
High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas.
Article in Virchows Archiv : an international journal of pathology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 74 citations in OpenAlex.
- STK11 c.1062 C > G germline variant in medullary thyroid carcinoma: implications for familial predisposition and genetic counseling.Endocrine · 2026Article
- Mechanism of and research progress on alterations in the RET gene in thyroid cancer (Review).Molecular medicine reports · 2026Review
- Emerging liquid biopsy markers in thyroid cancer: from isolation technologies to clinical translation.Frontiers in endocrinology · 2026Review
- Thyroid C-Cell Biology and Oncogenic Transformation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.Endocrine · 2025Review
- Overview of management and therapeutic advances in medullary thyroid cancer.Endocrine oncology (Bristol, England) · 2025Review
- Molecular genetics, therapeutics and RET inhibitor resistance for medullary thyroid carcinoma and future perspectives.Cell communication and signaling : CCS · 2024Review
- Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.The Journal of clinical endocrinology and metabolism · 2024Article
- Not OnlyJournal of the Endocrine Society · 2024Article
- Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study.Thyroid : official journal of the American Thyroid Association · 2024Article
- Update on C-Cell Neuroendocrine Neoplasm: Prognostic and Predictive Histopathologic and Molecular Features of Medullary Thyroid Carcinoma.Endocrine pathology · 2023Review
- External Validation of Three Available Grading Systems for Medullary Thyroid Carcinoma in a Single Institution Cohort.Endocrine pathology · 2022Article
- Sporadic medullary thyroid cancer: a systematic review and meta-analysis of clinico-pathological and mutational characteristics predicting recurrence.Thyroid research · 2022Review
- Article
- Precision oncology forFrontiers in oncology · 2022Review
- Unilateral Surgery for Medullary Thyroid Carcinoma: Seeking for Clinical Practice Guidelines.Frontiers in endocrinology · 2022Article
- HigherBiomolecules · 2021Article
- Progress in Treating Advanced Thyroid Cancers in the Era of Targeted Therapy.Thyroid : official journal of the American Thyroid Association · 2021Review
- Correlation of molecular data with histopathological and clinical features in a series of 66 patients with medullary thyroid carcinoma.Journal of endocrinological investigation · 2021Article
- Genomics and Epigenomics of Medullary Thyroid Carcinoma: From Sporadic Disease to Familial Manifestations.Endocrine pathology · 2021Review
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sporadic medullary thyroid carcinoma (MTC) harbors RET gene somatic mutations in up to 50 % of cases, and RAS family gene mutations occur in about 10 %. A timely and comprehensive characterization of molecular alterations is needed to improve MTC diagnostic stratification and design-tailored therapeutic approaches. Twenty surgically resected sporadic MTCs, previously analyzed for RET mutations by Sanger sequencing using DNA from formalin-fixed paraffin-embedded samples, were investigated for intragenic mutations in 50 cancer-associated genes applying a multigene Ion AmpliSeq next-generation sequencing (NGS) technology. Thirteen (65 %) MTCs harbored a RET mutation; 10 were detected at both Sanger and NGS sequencing, while 3 undetected by Sanger were revealed by NGS. One of the 13 RET-mutated cases also showed an F354L germline mutation in STK11. Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). The three remaining MTCs (15 %) resulted as wild-type for all the 50 cancer-related genes. Follow-up was available in all but one RET-mutated case. At the end of follow-up, 7 of 12 (58 %) RET-mutated patients had relapsed, while the 4 RAS-mutated MTC patients were disease-free. Two of the three patients with MTC wild-type for all 50 genes relapsed during the follow-up period. Detection of mutations by NGS has the potential to improve the diagnostic stratification of sporadic MTC.
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