A Report of Two Cases of Embryonal Rhabdomyosarcoma: Diagnostic Insights From Pathology

TL;DR

This paper presents two cases of embryonal rhabdomyosarcoma in children, highlighting the role of immunohistochemistry and molecular studies in diagnosis.

Contribution

The novelty lies in reporting recent ERMS cases and emphasizing diagnostic techniques used in their identification.

Findings

Immunohistochemistry and molecular studies were key in diagnosing embryonal RMS cases.

ERMS commonly affects children under 10 years old and is often found in the head, neck, or extremities.

Multimodal therapy is essential for treating RMS to improve patient outcomes.

Abstract

Rhabdomyosarcoma (RMS) is a family of malignant soft tissue tumors derived from undifferentiated mesoderm that fails to differentiate into skeletal muscle. Embryonal RMS (ERMS) is the most common subtype of RMS in children and adolescents, particularly those under 10 years of age. It primarily arises in the head and neck region, genitourinary tract, or extremities. Histologically, it resembles developing skeletal muscle with anaplastic features. Diagnosis relies on a combination of imaging, histopathology, immunohistochemistry, and molecular studies, with specific genetic alterations noted in the literature. Effective treatment of pediatric RMS cases requires multimodal therapy, including surgery, chemotherapy, and radiotherapy, to achieve a favorable prognosis. We report two cases of ERMS diagnosed within a four-month period, where immunohistochemistry and molecular studies contributed to the diagnosis.

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