# Case Report: Unveiling the unexpected: a rare case of adult-type rhabdomyoma in a 9-year-old boy

**Authors:** Li Wang, Shan Li, Lingling Sun

PMC · DOI: 10.3389/fped.2025.1451316 · Frontiers in Pediatrics · 2025-02-03

## TL;DR

A 9-year-old boy was diagnosed with a rare adult-type rhabdomyoma in his oropharynx, highlighting the importance of recognizing this unusual condition in children.

## Contribution

This case report documents an exceptionally rare occurrence of adult-type rhabdomyoma in a pediatric patient.

## Key findings

- A 9-year-old boy presented with an oropharyngeal tumor diagnosed as adult-type rhabdomyoma.
- Histological and immunohistochemical analyses confirmed the diagnosis with specific markers like MSA, Desmin, Myogenin, and MYOD1.
- The case emphasizes the need for clinical awareness of this rare tumor variant in young patients.

## Abstract

Rhabdomyoma is an exceedingly rare benign soft tissue tumor of skeletal muscle origin, classified into cardiac and extracardiac types based on location. Extracardiac rhabdomyoma further includes adult, genital, and fetal types depending on the degree of differentiation. Most patients are between 40 and 70 years old, with a mean age of 60 years and a male predominance. This case report presents a 9-year-old boy diagnosed with an oropharyngeal tumor, initially presenting with a 6-month history of a foreign body sensation in the throat, presenting as night-time snoring. Postoperative histological examination revealed adult rhabdomyoma, characterized by specific immunohistochemical and histologic traits including cytoplasmic positivity for muscle-specific Actin (MSA), Desmin, Myogenin, and MYOD1, large polygonal skeletal muscle cells and frequent extensive vacuolization. This report highlights the unusual age of presentation for this variant and underscores the need for heightened clinical awareness to ensure accurate diagnosis and effective management of such rare occurrences.

## Linked entities

- **Proteins:** LOC101066771 (desmin-like), myog.S (myogenin S homeolog), MYOD1 (myogenic differentiation 1)
- **Diseases:** rhabdomyoma (MONDO:0036688)

## Full-text entities

- **Genes:** 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}, MYOG (myogenin) [NCBI Gene 4656] {aka MYF4, bHLHc3, myf-4}
- **Diseases:** oropharyngeal tumor (MESH:D009959), Extracardiac rhabdomyoma (MESH:D012207), benign soft tissue tumor (MESH:D012983), snoring (MESH:D012913)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11830747/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11830747/full.md

## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC11830747/full.md

---
Source: https://tomesphere.com/paper/PMC11830747