Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study
Authors' conclusion
RET somatic mutations were associated with high-grade, aggressive primary tumor characteristics, and decreased distant metastatic-free survival but this relationship was not significant after accounting for tumor grade and disease stage. RETM918T was associated with aggressive primary tumors but was not independently associated with clinical outcomes. TP53 mutation may represent an adverse molecular event associated with decreased OS and DSS in MTC, but its prognostic value needs to be confirmed in future studies.
Study context
- Population
- Patients with medullary thyroid carcinoma (MTC)
- Participants
- 290 patients
- Outcome
- Molecular profile of MTC
Methodological detailsmulticenter, international
- Multicenter
- International
Main finding
As reported in the abstract
RET germ line mutations
40 patients
16.3%
Somatic RET mutations
135
46.9%
Somatic RAS mutations
57
19.8%
RETM918T, most common somatic RET mutation
n = 75
Observational data: associations, not effects.
Further findings
Other recurrent molecular alterations
- TP53
- 4.2%
- ARID2
- 2.9%
- SETD2
- 2.9%
- KMT2A
- 2.9%
- KMT2C
- 2.9%
- TP53 mutations associated with decreased overall survival (OS) and disease-specific survival (DSS), independently of tumor grade and American Joint Committee Cancer (AJCC) stage
Original publication
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