# Unraveling the Clinicopathological Diversity and Subtypes of Rhabdomyosarcoma: A Study From a Tertiary Care Center

**Authors:** Harika Mandava, Inuganti Venkata Renuka, Sudhakar Ramamoorthy

PMC · DOI: 10.7759/cureus.54341 · Cureus · 2024-02-17

## TL;DR

This study explores the clinicopathological features and subtypes of rhabdomyosarcoma in a tertiary care center, focusing on its rare occurrence in adults.

## Contribution

The study provides a detailed analysis of RMS subtypes and their clinical features in adults, highlighting unique presentations and rare subtypes.

## Key findings

- Trunk and genitourinary tracts were primary sites of RMS in adults.
- Alveolar and pleomorphic RMS were the predominant histological subtypes.
- RMS in adults showed distinct anatomical distributions and rare subtypes.

## Abstract

Background and objective

Rhabdomyosarcoma (RMS) is a rare and malignant mesenchymal tumor characterized by skeletal muscle differentiation. While it is a common soft tissue sarcoma in children, its incidence significantly decreases with advancing age, rendering it exceptionally rare in individuals aged more than 45 years. This study aimed to shed light on the clinicopathological diversity and subtypes of RMS, thereby providing a comprehensive overview for enabling diagnostic precision and therapeutic strategies in treating this infrequently encountered malignancy in adults.

Methodology

This was a hospital-based cross-sectional study conducted in the Department of Pathology. Patients who were diagnosed with RMS over a period of three years were included in the study. The demographic features such as age and sex and aspects related to the tumor site, size, subtypes of RMS, and immunohistochemical expression were studied.

Results

A total of 14 cases were included in our study. The age at diagnosis ranged from four months to 65 years with a male-to-female ratio of 1:2.5. The sites of presentation were head and neck, trunk, pelvis, genitourinary tract, and retroperitoneum. The histological types were embryonal, alveolar, pleomorphic, and mixed and spindle cell types. The tumor cells were positive for immunohistochemistry markers desmin, MyoD1, and vimentin.

Conclusion

This study delved into the clinicopathological intricacies of RMS, offering comprehensive insights into its diverse subtypes. Our findings underscore the unique presentation of RMS in adults, with trunk and genitourinary tracts emerging as primary sites and alveolar and pleomorphic RMS observed as the predominant histological subtypes. Furthermore, the study sheds light on rare subtypes with distinct anatomical distributions.

## Linked entities

- **Proteins:** LOC101066771 (desmin-like), MYOD1 (myogenic differentiation 1), PRELID1 (PRELI domain containing 1)
- **Diseases:** rhabdomyosarcoma (MONDO:0005212)

## Full-text entities

- **Genes:** VIM (vimentin) [NCBI Gene 7431], DES (desmin) [NCBI Gene 1674] {aka CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R}, MYOD1 (myogenic differentiation 1) [NCBI Gene 4654] {aka CMYO17, CMYP17, MYF3, MYOD, MYODRIF, PUM}
- **Diseases:** soft tissue sarcoma (MESH:D012509), malignant mesenchymal tumor (MESH:C535700), malignancy (MESH:D009369), alveolar and pleomorphic RMS (MESH:D018232), RMS (MESH:D012208)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10945286/full.md

## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC10945286/full.md

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Source: https://tomesphere.com/paper/PMC10945286