TERT promoter mutations in soft tissue sarcomas

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• TERT promoter mutations are linked to poor outcomes in various cancers.
• A TERT promoter polymorphism (rs2853669) may influence survival in TERT-mutated patients.
• Soft tissue sarcomas (STS) represent a diverse group of malignancies with varied prognoses.

Purpose of the Study:

• To determine the frequency of specific TERT promoter mutations (c.-124 C>T and c.-146 C>T) in STS.
• To genotype the rs2853669 polymorphism in STS.
• To explore potential associations between TERT alterations, clinicopathological features, and prognosis in STS.

Main Methods:

• Polymerase chain reaction (PCR) was used to amplify TERT promoter regions.
• Direct sequencing was performed to detect TERT mutations and genotype rs2853669.
• Analysis included 68 STS cases across 22 histological subtypes.

Main Results:

• TERT promoter mutations were identified in 5.9% (4/68) of STS, predominantly in liposarcoma subtypes.
• The rs2853669 C allele was found in 54.8% of STS and 75% of TERT-mutated cases.
• TERT mutations correlated with younger age, and the rs2853669 C allele with high histological grade; no prognostic association was observed.

Conclusions:

• TERT promoter mutations are infrequent in STS and occur in specific histological subtypes.
• The rs2853669 polymorphism shows an association with histological grade in STS.
• TERT mutation status and rs2853669 genotype did not impact patient prognosis in this STS cohort.