Aggressive prostatic embryonal rhabdomyosarcoma in an adolescent: A case report and short review

Abstract

Primary prostate rhabdomyosarcoma is a rare, aggressive malignancy predominantly affecting children and adolescents. We report a 14-year-old male presenting with progressive gross hematuria and lower abdominal pain. Imaging revealed a large heterogeneous prostatic mass extending to the bladder base with pelvic lymphadenopathy. Prostate biopsy demonstrated spindle-shaped tumor cells in a myxoid background, consistent with rhabdomyosarcoma. The patient received chemotherapy and supportive management, with initial improvement of hematuria. However, the disease progressed rapidly, accompanied by chronic pelvic pain, severe malnutrition, and progressive weakness. Despite multimodal treatment, the patient died within several months of diagnosis.

1. Introduction

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and adolescents, but primary prostatic involvement is uncommon even within genitourinary RMS. Bladder/prostate RMS is clinically important because tumor expansion occurs in a confined pelvic compartment, so patients can present with acute urinary retention, gross hematuria, rectal compression, or renal compromise before a tissue diagnosis is secured.^1,2 In adolescents, the diagnostic problem is sharper: obstructive symptoms are often first approached as benign or inflammatory disease, while age above childhood and metastatic features are associated with less favorable outcomes.³

The contemporary management principle is multidisciplinary and risk-adapted. Imaging should define the primary tumor and metastatic burden before definitive local treatment; histology, immunophenotype, tumor site, size, age, nodal status, and metastatic disease then guide chemotherapy and local control.^4,5 We report an aggressive prostatic embryonal RMS in a 14-year-old boy who presented with hematuria and clot retention, had normal PSA, showed bladder and rectal infiltration with suspicious pulmonary nodules, and deteriorated despite VAC chemotherapy. The case highlights the need to suspect RMS in adolescents with atypical prostatic enlargement and to obtain early tissue diagnosis with complete staging.

2. Case presentation

A 14-year-old boy was admitted with gross hematuria and acute urinary retention caused by blood clots. Serum prostate-specific antigen was within the normal range. Contrast-enhanced abdominal and pelvic CT demonstrated an enhancing malignant-appearing solid mass centered in the prostate, with necrotic components and infiltration into the bladder and rectum. Multiple nodules were also identified in the bilateral lower lung fields, raising concern for metastatic disease (Fig. 1).

Fig. 1.

Contrast-enhanced CT of the abdomen and pelvis. (A) Coronal view, (B) sagittal view, and (C) axial view demonstrate a large heterogeneous prostatic/pelvic mass with necrotic components and invasion of adjacent pelvic structures.

Because of persistent clot retention and the need to establish a definitive diagnosis, transurethral biopsy was performed. Intraoperatively, the prostate was enlarged, uneven, irregular, and friable, with multiple bleeding points and an intraprostatic hematoma (Fig. 2). Initial pathological assessment suggested a myxoid spindle-cell sarcoma, with myxofibrosarcoma and myxoid liposarcoma considered in the differential diagnosis. Subsequent immunohistochemical evaluation demonstrated positivity for MYOD1, Myf, and desmin, confirming the diagnosis of embryonal rhabdomyosarcoma (Fig. 3).

Fig. 2.

Transurethral endoscopic findings. (A) Friable and irregular prostatic tissue. (B) Multiple bleeding points with intraprostatic hematoma.

Fig. 3.

Representative histopathology of the prostatic lesion. (A) Low-power view and (B) high-power view show sarcomatous morphology; immunohistochemical positivity for MYOD1, Myf, and desmin confirmed embryonal rhabdomyosarcoma.

Following diagnosis, systemic chemotherapy with vincristine, dactinomycin, and cyclophosphamide (VAC) was initiated. The patient completed five chemotherapy cycles without any documented treatment-related adverse effects. Despite treatment, his overall clinical condition progressively deteriorated, and he subsequently died due to progressive clinical deterioration. The clinical course is summarized in Table 1.

Table 1.

Clinical timeline of the present case.

Date/period	Clinical step	Key details
Month 0	Presentation and initial staging	Gross hematuria with clot retention; contrast-enhanced CT showed a necrotic prostatic mass with bladder/rectal infiltration and lower-lung nodules; PSA was normal.
Month 1	Diagnosis	Irregular enlarged bleeding prostate with intraprostatic hematoma; pathology initially suggested myxoid spindle-cell sarcoma; MYOD1, Myf, and desmin positivity confirmed embryonal RMS.
Month 1-3	Systemic therapy	VAC chemotherapy with vincristine, dactinomycin, and cyclophosphamide.
Month 3	Outcome	Progressive clinical deterioration; patient died.

3. Discussion

This case illustrates three high-yield diagnostic lessons. First, normal PSA should not reassure clinicians when an adolescent has a rapidly enlarging prostate with hematuria or outlet obstruction. PSA is typically normal in reported prostatic RMS cases because the tumor is mesenchymal rather than epithelial.^6,7 Second, morphology alone may be misleading. Myxoid or spindle-cell sarcomas in the prostate of a young patient require immunohistochemistry for skeletal-muscle differentiation, including desmin, myogenin or MYF4, and MYOD1.^2,7 Third, obstructive symptoms should trigger staging rather than isolated debulking. The European imaging guideline recommends MRI for primary-tumor definition and chest CT, with FDG-PET/CT or PET/MRI when available, to evaluate regional and distant disease.⁴

Risk assignment is central because bladder/prostate RMS spans a wide prognostic range. Favorable features in RMS generally include embryonal histology, small tumor size, younger age, localized disease, and complete or near-complete local control. By contrast, adolescent age, bladder/prostate primary site, bulky pelvic invasion, nodal disease, and distant metastasis move the patient toward a high-risk or very-high-risk treatment pathway.^3,5 In the present case, embryonal histology was the main favorable element, but the clinical picture was dominated by adverse features: age 14 years, bladder and rectal infiltration, and bilateral lower-lung nodules suspicious for metastases. These features explain why a seemingly localized urologic presentation rapidly became an oncologic emergency.

The role of surgery in bladder/prostate RMS is different from that in many adult prostate malignancies. Upfront radical resection often risks incomplete margins and major urinary morbidity when tumors are large, infiltrative, or metastatic. Current pediatric and adolescent RMS recommendations emphasize induction chemotherapy, followed by individualized local control with delayed excision, radiotherapy, or organ-preserving approaches when feasible.^5,8,9 Urethral biopsy in the present case was therefore best understood as a diagnostic and hemostatic procedure rather than definitive oncologic local control.

The chemotherapy backbone in pediatric RMS commonly includes vincristine and actinomycin with an alkylating agent, usually cyclophosphamide in VAC-based regimens or ifosfamide in IVA-based regimens. Local treatment is then selected according to response, residual disease, and expected functional cost. In bladder/prostate disease, the balance is particularly difficult because complete excision can require cystoprostatectomy, urinary diversion, and loss of bladder function, whereas inadequate local control increases relapse risk. Delayed excision, external-beam radiotherapy, and selected bladder-sparing approaches including brachytherapy have therefore been used to individualize care.^5,8,9 The current case did not reach a phase in which local control after induction chemotherapy could be safely implemented.

VAC chemotherapy is associated with several well-recognized treatment-related toxicities. Vincristine may cause peripheral neuropathy, constipation, autonomic dysfunction, and, less commonly, syndrome of inappropriate antidiuretic hormone secretion. Dactinomycin is associated with myelosuppression, mucositis, gastrointestinal toxicity, hepatotoxicity, and an increased risk of radiation-related tissue injury when administered in proximity to radiotherapy. Cyclophosphamide may cause myelosuppression, nausea and vomiting, alopecia, hemorrhagic cystitis, gonadal toxicity, and, at higher cumulative doses, cardiotoxicity and secondary malignancies. Notably, no clinically significant chemotherapy-related adverse effects were documented during the five cycles administered in this patient.^1,2

Published cases show heterogeneous outcomes, largely reflecting stage, age, histology, and feasibility of local control (Table 2). Prabhakaran et al. reported a 19-year-old with pulmonary metastases who achieved complete radiologic response at one year after multi-agent chemotherapy and radiotherapy.⁶ Sow et al. reported one-year complete remission in a 26-year-old treated with combined radio-chemotherapy.¹⁰ In contrast, Alenezi et al. described a 35-year-old with embryonal RMS who died shortly after limited systemic therapy.¹¹ Dhanji et al. demonstrated that intensive multimodal therapy, including chemotherapy and delayed radical surgery, can achieve disease-free survival in selected infants.¹² Our patient's rapid decline despite VAC is consistent with the adverse biology of advanced bladder/prostate RMS in an adolescent with local invasion and suspected pulmonary disease.

Table 2.

Selected published cases of prostatic rhabdomyosarcoma relevant to age, management, and outcome.

Author (year)	Country	Age	Management	Outcome
Alenezi et al. (2023)	Kuwait	35-year-old male	Diagnostic cystoscopy and TUR biopsy, followed by two cycles of gemcitabine-docetaxel.	Died two weeks after returning to home country.
Nerli et al. (2018)	India	23-year-old male	Diagnostic TUR and TRUS-guided biopsies; three cycles of cyclophosphamide, doxorubicin, and vincristine.	Partial response with significant tumor-size reduction after three cycles; ongoing treatment at reporting.
Sow et al. (2021)	Senegal	26-year-old male	Concurrent chemotherapy with nine courses of doxorubicin, vincristine, and cyclophosphamide, followed by radiotherapy.	Complete remission for one year, with resolution of urinary symptoms and no radiologic recurrence.
Dhanji et al. (2022)	USA	6-month-old male	Multi-agent chemotherapy (VAC then ifosfamide/doxorubicin), followed by radical cystoprostatectomy, pelvic lymph node dissection, and ileal conduit.	Alive and disease-free at 13-month follow-up.
Prabhakaran et al. (2013)	India	19-year-old male	Multi-agent chemotherapy plus radical radiotherapy to the prostate region.	Complete radiologic response at one-year follow-up; alive.
Present case	Indonesia	14-year-old male	Transurethral biopsy for diagnosis, followed by VAC chemotherapy.	Progressive deterioration and death in October 2025.

This report also exposes common practical limitations in rare pelvic sarcoma care. Tumor size, nodal status, bone marrow findings, fusion testing, MYOD1 mutation status, and serial response imaging were not fully documented in the available record. These missing data limit formal risk-group assignment and make it difficult to separate treatment resistance from advanced disease at presentation. For submission, the case would be strengthened by adding exact CT measurements, chest imaging details, chemotherapy cycle dates and doses, performance status, complications, and whether guardian consent for publication was obtained.

For future similar presentations, the practical message is early escalation: adolescents with clot retention, normal PSA, and a malignant prostatic mass should undergo complete sarcoma-oriented staging, prompt tissue diagnosis with immunohistochemistry, early pediatric oncology referral, and multidisciplinary discussion of chemotherapy and local control. Molecular classification, including fusion status when available, should also be pursued because it increasingly informs risk stratification and treatment planning.⁵

4. Conclusion

Prostatic embryonal rhabdomyosarcoma should be considered in adolescents with hematuria, clot retention, and a rapidly enlarging prostatic mass despite normal PSA. Early sarcoma-directed staging, diagnostic biopsy with myogenic immunohistochemistry, and multidisciplinary treatment planning are essential. This case underscores the aggressive course that may occur when bladder/prostate RMS presents with local invasion and suspected pulmonary disease.

CRediT authorship contribution statement

Ida Bagus Gde Tirta Yoga Yatindra: Conceptualization, Methodology, Writing – original draft, Writing – review & editing. I Wayan Yudiana: Supervision, Validation, Writing – review & editing. Wahjoe Djatisoesanto: Writing – review & editing. Soetojo Wirjopranoto: Supervision, Conceptualization, Project administration, Writing – review & editing.

Consent for publication

Written informed consent for publication was obtained from the patient's parent or legal guardian before submission.

Funding

No external funding was declared.

Data availability

All data relevant to the case are included in the article and accompanying figures/tables; additional clinical details are available from the corresponding author on reasonable request, subject to privacy restrictions.