Surreal illustration of hope and challenge in treating congenital rhabdomyosarcoma

Rare Childhood Cancer: Understanding Congenital Rhabdomyosarcoma

Beau Callahan in Health & Wellness December 2025 • 4 min read.

"Two case studies shed light on the challenges and treatment strategies for this rare cancer diagnosed in newborns."

Rhabdomyosarcoma (RMS), a type of soft tissue sarcoma, is uncommon in children, but its occurrence in newborns is even rarer. Existing research indicates that only a small percentage of RMS cases are diagnosed in infants under one year old, making congenital RMS (diagnosed at birth or shortly thereafter) particularly unusual. Due to its rarity, understanding the characteristics, treatment approaches, and outcomes of congenital RMS is crucial.

This article examines two cases of congenital RMS treated at the Bambino Gesù Children's Hospital between 2000 and 2016. These cases provide valuable insights into the different ways this cancer can manifest and how treatment strategies can impact outcomes. By reviewing these cases, along with existing literature, we aim to contribute to a better understanding of this challenging disease.

The cases highlight the two primary types of RMS: embryonal and alveolar. They also underscore the difficulties in managing RMS in newborns and the importance of tailored treatment approaches.

Case Presentations: Two Different Paths

Surreal illustration of hope and challenge in treating congenital rhabdomyosarcoma

The first case involved a newborn girl presenting with multiple skin and subcutaneous nodules. These lesions, ranging in color from bluish to purple, were found on her head, limbs, and trunk. Further investigation revealed the presence of alveolar RMS (ARMS), confirmed by the detection of a specific PAX3-FOXO1 fusion transcript through Array-CGH analysis. The cancer had spread to her liver, pancreas, lungs, and bones. Despite chemotherapy and a stem cell transplant, the disease progressed to the central nervous system (CNS), leading to a fatal outcome at nine months of age.

The second case involved a five-day-old boy who presented with an abdominal mass. After surgical removal and pathological examination, the mass was identified as embryonal RMS (ERMS). Molecular studies did not reveal any PAX3-FOXO1 or PAX7-FOXO1 fusion transcripts. Classified as group II according to the Intergroup Rhabdomyosarcoma Study Group (IRSG) classification, he underwent chemotherapy and prolonged maintenance therapy. Seven years later, he remains disease-free, although he experiences mild neurogenic bladder dysfunction.

Case 1: Alveolar RMS (ARMS), disseminated disease, fatal outcome due to CNS progression.
Case 2: Embryonal RMS (ERMS), localized, successful treatment with surgery and chemotherapy.

These cases underscore the importance of distinguishing between the two main types of RMS and tailoring treatment accordingly. Alveolar RMS, particularly when disseminated, presents a significant challenge, while localized embryonal RMS may respond more favorably to treatment.

Implications and Future Directions

The diagnosis of RMS in newborns presents unique challenges. The rarity of the disease, combined with the vulnerability of infants, necessitates careful consideration of treatment strategies. The research underscores the aggressive nature of alveolar RMS in newborns, often leading to CNS progression despite intensive therapy.

Given the propensity for CNS involvement in alveolar RMS, the researchers suggest that CNS prophylaxis could play a role in preventing leptomeningeal dissemination. Additionally, they emphasize the importance of molecular studies for deeper tumor characterization, treatment stratification, and the identification of new therapeutic targets.

Further research is needed to develop specific guidelines for treating RMS in neonates and infants. Collaborative efforts to collect data and analyze outcomes are essential to improve the prognosis for these young patients. Molecular profiling and the development of targeted therapies offer hope for more effective and less toxic treatments in the future.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1186/s12887-018-1128-5, Alternate LINK

Title: Congenital Rhabdomyosarcoma: A Different Clinical Presentation In Two Cases

Subject: Pediatrics, Perinatology and Child Health

Journal: BMC Pediatrics

Publisher: Springer Science and Business Media LLC

Authors: Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini, Giuseppe Maria Milano

Published: 2018-05-15

Everything You Need To Know

What is Congenital Rhabdomyosarcoma, and why is it important to understand it?

Congenital Rhabdomyosarcoma (RMS) is an exceptionally rare cancer diagnosed in newborns. Because of its rarity, understanding the characteristics, treatment approaches, and outcomes of congenital RMS is crucial for effective management. This means healthcare providers must be highly vigilant and knowledgeable to diagnose and treat this disease effectively. It is a type of soft tissue sarcoma. The article focuses on two specific cases to help illustrate the complexity and challenges of the disease.

What are the different types of Rhabdomyosarcoma, and how do they impact treatment?

There are two primary types of Rhabdomyosarcoma (RMS): embryonal and alveolar. Alveolar RMS (ARMS) is often more aggressive and may spread more quickly, while embryonal RMS (ERMS) can sometimes be more localized and respond better to treatment. The article highlights how these different types of RMS can impact the prognosis and treatment strategies. Case studies show that the alveolar type can lead to central nervous system (CNS) progression, as seen in one case. Meanwhile, the embryonal type can have a more favorable outcome when treated with surgery and chemotherapy.

What are the challenges in treating Rhabdomyosarcoma in newborns?

The diagnosis of Congenital Rhabdomyosarcoma (RMS) is challenging because the disease is rare, and newborns are vulnerable. Treatment approaches must be carefully considered to minimize harm while maximizing effectiveness. The cases discussed highlight the need for tailored treatment strategies based on the specific type of RMS and the extent of the disease. Healthcare providers must balance aggressive treatments, such as chemotherapy and stem cell transplants, with the need to protect the infant's developing body.

How does the IRSG classification play a role in the treatment of Rhabdomyosarcoma?

The Intergroup Rhabdomyosarcoma Study Group (IRSG) classification is used to categorize the disease and guide treatment plans. In one of the cases, the newborn was classified as group II, indicating that the disease was localized and amenable to a less aggressive treatment approach. This classification helps doctors determine the disease's severity and prognosis, influencing decisions about surgery, chemotherapy, and other treatments. The classification aids in standardizing treatment protocols and comparing outcomes across different patient groups.

How are genetic markers used in diagnosing and treating Rhabdomyosarcoma?

The presence or absence of specific genetic markers, such as the PAX3-FOXO1 fusion transcript, helps to identify the type of Rhabdomyosarcoma (RMS). In one case, the detection of the PAX3-FOXO1 fusion transcript confirmed the diagnosis of Alveolar RMS (ARMS). The absence of these fusion transcripts in another case helped to identify the Embryonal RMS (ERMS). These molecular studies assist in accurate diagnosis and prognosis and influence the choice of treatment. These markers can also help to predict how the cancer might behave and respond to treatment.