# The Role of Ultrasonography in Predicting Genetic Characteristics of Endometrial Cancers

**Authors:** Kemine Uzel, Filiz Bilir, Mesude Tosun, Nura Fitnat Topbas Selcuki, Seda Eren Keskin, Merve Gokbayrak, Gulhan Demir, Naci Cine, Pasa Ulug, Ahmet Cem Iyibozkurt, Hakan Savlı

PMC · DOI: 10.3390/jcm14093216 · Journal of Clinical Medicine · 2025-05-06

## TL;DR

This study explores whether endometrial cancer stiffness measured by ultrasound relates to genetic mutations, finding no strong link but suggesting stiffness may indicate tumor aggressiveness.

## Contribution

The study investigates the novel use of shear wave elastography to predict genetic features in endometrial cancer, revealing potential links to tumor aggressiveness.

## Key findings

- No significant correlation was found between endometrial stiffness and specific gene mutations.
- Metastatic cases showed higher median SWE values, suggesting a possible link to tumor aggressiveness.
- TTN, PLEC, and PRSS1 were the most frequently mutated genes in the study population.

## Abstract

Background/Objectives: To evaluate the association between endometrial tissue stiffness, as measured by shear wave elastography (SWE), and the presence of specific gene mutations in patients diagnosed with endometrial cancer. Methods: Peripheral blood samples were collected for DNA extraction and next-generation sequencing (NGS) to identify gene mutations. Preoperative SWE was performed to measure endometrial stiffness, with values expressed in kilopascals (kPa). Statistical analyses were conducted to assess the correlation between SWE measurements and genetic findings. Results: Genetic mutations were detected in 66% (n = 31) of cases, with TTN, PLEC, and PRSS1 being the most frequently mutated genes. The median SWE measurement was 36.5 kPa (range: 19.1–70.4 kPa). No statistically significant correlation was found between SWE values and the presence of gene mutations (p > 0.05). Cases with metastasis exhibited higher median SWE values (40.1 kPa) compared to non-metastatic cases (34.7 kPa), though this difference was not statistically significant. Conclusions: While no significant association was observed between endometrial stiffness and specific gene mutations, higher SWE values in metastatic cases suggest that increased tissue stiffness may be linked to tumor aggressiveness. Further large-scale studies are warranted to validate these findings and explore the potential of SWE as a non-invasive tool in assessing endometrial cancer characteristics.

## Linked entities

- **Genes:** TTN (titin) [NCBI Gene 7273], PLEC (plectin) [NCBI Gene 5339], PRSS1 (serine protease 1) [NCBI Gene 5644]
- **Diseases:** endometrial cancer (MONDO:0002447)

## Full-text entities

- **Genes:** PRSS1 (serine protease 1) [NCBI Gene 5644] {aka TRP1, TRY1, TRY4, TRYP1}, TTN (titin) [NCBI Gene 7273] {aka CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC}, PLEC (plectin) [NCBI Gene 5339] {aka EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD}
- **Diseases:** Endometrial Cancers (MESH:D016889), metastasis (MESH:D009362), tumor (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

30 references — full list in the complete paper: https://tomesphere.com/paper/PMC12072879/full.md

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Source: https://tomesphere.com/paper/PMC12072879