Pleomorphic Rhabdomyosarcoma of the Uterine Corpus in an Adult Who Underwent Multi-gene Panel Testing.

Background/Aim: Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumor in children. Adult primary RMS of gynecological origin is a rare condition and uterine RMS is an aggressive malignancy with a poor prognosis. The genetic variants associated with uterine RMS in adults have yet to be fully elucidated, and there is no established therapeutic strategy for rare tumors. Case Report: A 69-year-old Japanese woman was referred to our hospital with abdominal bloating. Imaging examination revealed a tumor with diameter of 85 mm located in the uterus and multiple regional lymph node metastases. Biopsy of the uterine corpus indicated possible uterine carcinosarcoma or RMS. Following debulking surgery, the patient was diagnosed with stage IVB pleomorphic RMS. The patient was treated with two courses of doxorubicin every three weeks and one course of combination chemotherapy with vincristine, actinomycin, and cyclophosphamide. Because of rapid progression of the disease, we decided to perform multi-gene panel testing to determine the most effective therapeutic strategy. However, no therapeutic plan based on genetic information was identified. The patient with chemotherapy-refractory RMS died 11 weeks after surgery. Conclusion: Our patient had advanced uterine RMS with an unresectable tumor that was resistant to chemotherapy, resulting in poor outcomes. Despite conducting multi-gene panel testing, no tailored therapeutic approach based on genetic information was found. This case highlights the challenges in managing uterine RMS in adults and underscores the urgent need for further research to identify effective treatment modalities.

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

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.

Objective Responses in Metastatic Pleomorphic Rhabdomyosarcoma Treated with Combination of Doxorubicin and Pembrolizumab: A Case Series.

Introduction: Pleomorphic rhabdomyosarcoma is a rare subtype of rhabdomyosarcoma, a soft tissue sarcoma with skeletal muscle differentiation. Although rhabdomyosarcoma is typically seen in the pediatric population, the pleomorphic variant most frequently presents in adulthood and is characteristically aggressive with no currently established treatment regimen in the setting of metastatic disease. There has been growing interest in the application of immune checkpoint inhibitors alongside conventional chemotherapeutic agents in the treatment of pleomorphic rhabdomyosarcoma. Case Presentation: In the present case series, we report 2 patients with metastatic pleomorphic rhabdomyosarcoma treated with combination doxorubicin and pembrolizumab who had confirmed objective responses. Of note, these 2 patients had variable PD-L1 status - negative and low positive. Duration of treatment response was notable at 14 months and 9 months, respectively, with the first patient remaining on maintenance pembrolizumab therapy and the second patient subsequently achieving complete response with third-line trabectedin. Both patients are currently undergoing routine interval imaging with no evidence of disease at this time. Conclusion: This report highlights and discusses the potential role of PD-1 blockade in the treatment of pleomorphic rhabdomyosarcoma and also discusses burgeoning immunological data that may explain the clinical responses seen in these 2 cases.

Prognostic factors and treatment outcomes in patients with pleomorphic rhabdomyosarcoma: a population-based cohort study.

BACKGROUND: Pleomorphic rhabdomyosarcoma is a rare sarcoma in adults. The clinical characteristics, outcomes and prognostic factors associated with pleomorphic rhabdomyosarcoma remain unclear. METHODS: We retrospectively analyzed data from the Bone and Soft Tissue Tumor Registry of Japan, and enrolled patients with pleomorphic rhabdomyosarcoma. Disease-specific overall survival, local recurrence-free survival and distant metastasis-free survival were estimated using the Kaplan-Meier method; Cox regression model was used to identify prognostic factors. RESULTS: In total, 182 patients with pleomorphic rhabdomyosarcoma were included. Median age was 63 (range 20-95) years. The lower extremity (48%) was the most frequent tumor origin site, while head and neck were rare (4%). A total of 43 patients (24%) had distant or regional nodal metastases at first presentation. In all cases, the 2-year and 5-year survival rates were 66.3% and 54.1%, respectively. Distant metastasis was a significant poor prognostic factor (Hazard ratio 6.65; 95% confidence intervals, 3.00-14.75, P < 0.0001), with median survival of such patients being 9.4 (95% confidence intervals: 5.3-12.2) months. In 134 localized cases, the 2-year and 5-year survival rates were 91.5% and 68.3%, respectively. Large tumor size and older age were associated with poorer prognosis. Through data from localized and locally curative cases extracted and adjusted by propensity score matching, we found that perioperative chemotherapy did not improve disease-specific overall survival, distant metastasis-free survival or local recurrence-free survival. CONCLUSIONS: Clinical characteristics and outcomes of pleomorphic rhabdomyosarcoma are similar to those of other high-grade soft tissue sarcomas. Pleomorphic rhabdomyosarcoma may be less chemosensitive, and a strategy other than the standard cytotoxic chemotherapy is required to improve its prognosis.

Adult Laryngeal Pleomorphic Rhabdomyosarcoma: A Rare Entity.

Rhabdomyosarcoma (RMS) is a rare and aggressive cancerous tumor that arises from embryonal mesenchymal cells with skeletal muscle differentiation, and it is exceedingly rare that occurs specifically in the larynx. To date, only 22 instances of laryngeal pleomorphic RMSs have been documented in adults. Consequently, there is limited information available to assist healthcare professionals in effectively handling RMS in the larynx of adult patients. Here, we present an uncommon occurrence involving a 45-year-old man who experienced progressive hoarseness and received a diagnosis of pleomorphic RMS affecting the larynx. Pleomorphic RMS had been pathologically diagnosed after a vertical hemilaryngectomy. Following the surgical intervention, the patient underwent chemotherapy and radiation therapy. As of now, there have been no indications of tumor recurrence.

Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma.

Rhabdomyosarcoma accounts for roughly 1% of adult sarcomas, with pleomorphic rhabdomyosarcoma (PRMS) as the most common subtype. Survival outcomes remain poor for patients with PRMS, and little is known about the molecular drivers of this disease. To better characterize PRMS, we performed a broad array of genomic and immunostaining analyses on 25 patient samples. In terms of gene expression and methylation, PRMS clustered more closely with other complex karyotype sarcomas than with pediatric alveolar and embryonal rhabdomyosarcoma. Immune infiltrate levels in PRMS were among the highest observed in multiple sarcoma types and contrasted with low levels in other rhabdomyosarcoma subtypes. Lower immune infiltrate was associated with complete loss of both TP53 and RB1. This comprehensive characterization of the genetic, epigenetic, and immune landscape of PRMS provides a roadmap for improved prognostications and therapeutic exploration.

Chemotherapy-Induced Atrial Fibrillation With Rapid Ventricular Response in a Patient With Pleomorphic Rhabdomyosarcoma: A Case Report and Approach to Management.

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia. Its prevalence in cancer patients undergoing treatment with radiation or chemotherapeutic agents has been on the rise. The most common offending agents are alkylating agents and anthracyclines causing various types of arrhythmias, including AF. We report a case of a 62-year-old male who was diagnosed with stage IV pleomorphic rhabdomyosarcoma and was started on chemotherapy with a mesna-ifosfamide and doxorubicin (MAI) regimen. He developed AF with a rapid ventricular rate soon after his second cycle of treatment, which got better with the initiation of beta-blocker therapy. Since low blood counts, including low platelet levels, are expected in patients with chemotherapy, the continual use of anticoagulation therapy varies on a case-to-case basis.

Establishment of a novel experimental system using single cell-derived pleomorphic rhabdomyosarcoma cell lines expressing K-RasG12V and deficient in p53.

Pleomorphic rhabdomyosarcoma (PRMS) predominantly arises in adult skeletal musculature and is usually associated with poor prognosis. Thus, effective treatments must be developed. PRMS is a rare tumor; therefore, it is critical to develop an experimental system to understand the cellular and molecular mechanisms of PRMS. We previously demonstrated that PRMS develops after p53 gene deletion and oncogenic K-Ras expression in the skeletal muscle tissue. In that study, oncogenic K-Ras-expressing cells were diverse and the period until disease onset was difficult to control. In this study, we developed an experimental system to address this problem. Single cell-derived murine cell lines, designated as RMS310 and RMSg2, were established by limiting the dilution of cells from a lung metastatic tumor colony that were positive for various cancer stem cells and activated skeletal muscle-resident stem/progenitor cell marker genes by RT-PCR. All cell lines stably recapitulated the histological characteristics of human PRMS as bizarre giant cells, desmin-positive cells, and lung metastases in C57BL/6 mice. All subclones of the RMSg2 cells by the limiting dilution in vitro could seed PRMS subcutaneously, and as few as 500 RMSg2 cells were sufficient to form tumors. These results suggest that the RMSg2 cells are multipotent cancer cells that partially combine the properties of skeletal muscle-resident stem/progenitor cells and high tumorigenicity. Thus, our model system's capacity to regenerate tumor tissue in vivo and maintain stable cells in vitro makes it useful for developing therapeutics to treat PRMS.

Pleomorphic Rhabdomyosarcoma: A Systematic Review with Outcome Analysis and Report of a Rare Abdominal Wall Lesion.

Introduction. Pleomorphic rhabdomyosarcoma (RMS) is an aggressive and rare malignant neoplasm with a poor prognosis. As its name suggests, this tumor exhibits extensive pleomorphism with features of skeletal muscle differentiation. Due to its rarity, its diagnosis is often a clinical and pathological challenge. Since only small case series and a few scattered case reports exist in the literature, the impact of different demographic features, tumor site, and/or treatment modality on patient outcomes has yet to be extensively studied. Methods. We report a case of a pleomorphic RMS presenting atypically as an abdominal wall mass. We have also analyzed the National Cancer Institute's Surveillance, Epidemiology and End Results (SEER) database to determine the factors affecting the outcome of this neoplasm. Moreover, we present a review and summary of pleomorphic RMS cases arising from the abdominal wall reported in the English language literature. Results. We found two hundred and forty-two cases of pleomorphic RMS in the SEER database. The majority of the patients were diagnosed after the age of 40, with the age of diagnosis showing a unimodal distribution. The majority of the patients were Caucasian (82%) and male (59%). Age of diagnosis, tumor stage, and surgical management significantly affected the patients' outcome, while patients' ethnicity, sex, or tumor site did not affect the outcome. We only found five previously reported cases of pleomorphic RMS arising from the abdominal wall. Conclusions. Pleomorphic RMS arising from the abdominal wall is extremely rare. Our data sheds light on the factors affecting the outcome of pleomorphic RMS. We have also discussed the challenges involving the histopathological diagnosis of this rare neoplasm and how to best approach this task.

Case Report: A PD-L1-Positive Patient With Pleomorphic Rhabdomyosarcoma Achieving an Impressive Response to Immunotherapy.

There is currently a lack of effective systemic treatment for patients with advanced pleomorphic rhabdomyosarcoma (PRMS). Although programmed death protein 1 (PD-1) inhibitors have shown efficacy in various solid tumors, their effects on PRMS have not been well established. Here, we present a case of a 12-year-old Chinese male adolescent with metastatic PRMS who benefited from the PD-1 inhibitor nivolumab. The patient initially underwent primary tumor resection but failed to respond to subsequent first-line chemotherapy and second-line pazopanib treatment. Pathological examination showed positive PD-L1 expression and tumor-infiltrating lymphocytes in the tumor tissue, and the patient was administered nivolumab as a posterior-line treatment. After attaining a clinically partial response (PR), surgical resection was performed, which was followed by adjuvant nivolumab. At the time of the submission of this manuscript, the patient achieved recurrence-free survival (RFS) lasting 45 months and counting. This is the first clinical evidence that a patient with refractory PRMS was controlled by anti-PD-1 antibody, with an RFS lasting more than 3 years. This case suggests that PD-L1 expression and T-cell infiltration could be used as potential biomarkers for PRMS immunotherapy.

Primary Pleomorphic Omental Rhabdomyosarcoma in an Adult: A Report of a Unique Case.

Rhabdomyosarcoma (RMS) is a very rare, highly malignant neoplasm thought to originate from the pluripotent mesenchymal tissue. Predominantly diagnosed among children and teenagers, however they can also be encountered in adults. There are a few risk factors associated with RMS like family history of malignancy and genetic syndromes like neurofibromatosis type 1, Li-Fraumeni syndrome, Noonan syndrome and Beckwith-Wiedemann syndrome; however, most cases of RMS are sporadic. Other factors like radiotherapy for other malignancy and pre-natal radiation exposure also are associated with increased risk of developing RMS. The most common reported sites for RMS are head, neck, trunk, pelvis and lower limbs. Omental involvement of primary RMS has been rarely reported in the literature. Principally, the survival of treated RMS cases has improved, primarily due to multidisciplinary management approaches. In this paper, we report a case of primary pleomorphic RMS in a 50-year-old female who presented with abdominal pain.

Molecular analysis of 10 pleomorphic rhabdomyosarcomas reveals potential prognostic markers and druggable targets.

Pleomorphic rhabdomyosarcoma (PRMS) is a rare and aggressive adult sarcoma with a median overall survival of less than 2 years. Most PRMS do not respond to conventional chemotherapy and/or radiation, and targeted therapies are nonexistent as few PRMS have undergone the molecular characterization necessary to identify therapeutic options. To date, complex structural and few recurrent regional copy alterations have been reported in the PRMS cases evaluated by cytogenetic and comparative genomic hybridization. Thus, there remains an urgent need for more comprehensive molecular profiling to both understand disease pathogenesis and to identify potentially actionable targets. Ten PRMS resection cases were retrieved from institutional archives and clinicopathologic demographics were recorded. All tumors were subjected to DNA-based targeted next-generation sequencing (NGS) of 340 cancer-related genes while a subset (six cases) underwent gene-expression profiling of 770 genes. Alterations identified by NGS included genes involved in cell cycle regulation (90%), the RAS/MAPK and AKT pathways (80%), telomere maintenance (40%), chromatin remodeling (40%), and DNA repair (20%), as well as the cAMP-signaling pathway (10%). Microsatellite instability was absent in all cases, and tumor mutational burden was predominantly low. Gene expression profiling revealed up-regulation of many of the same pathways, including the RTK/MAPK, AKT/PIK3CA/mTOR, Wnt, Hedgehog and JAK/STAT pathways. Survival analysis demonstrated patients with concurrent biallelic inactivation of CDKN2A and TP53 showed significantly shorter overall survival (median: 2 vs. 50 months). Our integrated molecular characterization identified not only potentially targetable alterations, but also prognostic markers for stratification of PRMS patients.

Baseline Characteristics, Prognostic Factors, and Treatment Outcomes for Adult Patients With Rhabdomyosarcoma (RMS).

BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood, while in adults it is one of the rarer tumors. Its prognosis is better in children with current treatment modalities; however, it carries poorer prognosis in adults. Recent data on adult RMS is scarce from our part of world. We report outcomes of adult patients with RMS, and with 40 patients; it is the first study to publish such a large data from Pakistan. METHODS: This was a retrospective study that included 64 adult patients aged 18 years and older. After data extraction and scrutiny, a total of 40 patients were segregated with diagnosis of RMS of various varieties who were treated and followed up subsequently. International Business Machines (IBM) Statistical Package for Social Sciences (SPSS), version 26 (IBM Corp., Armonk, NY) was used to evaluate all of the gathered data. RESULTS: Embryonal RMS (ERMS) was the most common subtype. Factors favoring better overall survival (OS) at 5 years were absence of nodal and distal metastases, treatment with surgery, margin negative resection, and absence of residual disease on postoperative imaging. Adjuvant radiation therapy (XRT) for positive resection margins as well as for residual disease on postoperative imaging also favored better OS at 5 years. Chemotherapy did impart a trend towards better OS; however, it was not significant. Histopathologic subtype and tumor size did not have any significant impact on outcomes. Median progression free survival (PFS) was 11 months and median OS was 15 months. CONCLUSIONS: Adult RMS is a rare disease entity with widely heterogeneous clinical picture and poorer outcomes as compared to the disease of childhood and adolescence. Further prospective studies with larger sample size are required to establish role of patient, disease, and treatment-related factors affecting outcomes in our population.

Diagnosis and treatment of pleomorphic rhabdomyosarcoma of the uterus: a rare case report and review of the literature.

Pleomorphic rhabdomyosarcomas of the uterus (PRMSu) is a rare malignant tumor of the female genital tract. Accurate diagnosis and effective treatment of PRMSu are important. We report an 81-year-old woman who was diagnosed with PRMSu. She had an extremely unusual presentation of secondary dyspnea because of an extremely large uterus (26.0 cm). Pelvic magnetic resonance imaging showed rare severe enlargement and intrauterine filling with tumor tissue, and she was initially diagnosed with uterine leiomyosarcoma. The patient underwent hysterectomy, as well as bilateral salpingo-oophorectomy and omentectomy, and was finally confirmed as having PRMSu by histopathology combined with immunohistochemistry. We performed a systematic review of the literature between 1982 and 2020 and focused on different treatment strategies and prognosis of PRMSu. A retrospective review of 28 cases was conducted and survival analysis was estimated by using the Kaplan-Meier method. We found that the accuracy of diagnosis of PRMSu completely depends on histopathology and immunohistochemistry because of no special clinical symptoms, no sensitive tumor markers, and no special imaging findings. Although there is no standardized approach for treating this rare disease, the treatment strategy of a surgical operation combined with adjuvant chemotherapy appears to be the best choice.

Successful treatment of synchronous chemoresistant pulmonary metastasis from pleomorphic rhabdomyosarcoma with stereotaxic body radiation therapy: A case report and a review of the literature.

BACKGROUND: Rhabdomyosarcoma (RMS) is a highly malignant soft tissue sarcoma (STS), usually of adults, displaying skeletal muscle differentiation. STS principally metastasize to the lungs with more than 50% of metastatic patients presenting with isolated pulmonary metastasis. Paradoxically, the majority of drugs prescribed to treat RMS are associated with multidrug resistance. CASE REPORT: We report the case of a 53 year-old patient who developed three synchronous chemoresistant lung metastasis from pleomorphic RMS. Considering the poor prognosis, the patient's preference and the chemoresistance of her lung metastasis, we decided to perform two consecutive stereotactic body radiotherapy (SBRT) on two of these three lesions. DISCUSSION: Initially, the patient was referred to our institute with a painful mass in the anterior part of the left thigh increasing in volume for 3 months. Biopsy revealed a high-grade pleomorphic RMS. The cancer being staged IB, she had neoadjuvant radiotherapy. After complete surgical excision, pathology examination revealed a 6 cm Grade II pleomorphic RMS, with clear margins. Six months later, she developed three synchronous lung metastases. She got 4 courses of doxorubicin-ifosfamide which were poorly supported. After two courses, a heterogeneous (morphological and metabolic) response was observed, hence SBRT was delivered with a Biologically Equivalent Dose (α/ß10)> 100 Gray on the two more chemoresistant lesions. This SBRT was very well tolerated, no side effects were reported. The patient remained alive and achieved a complete response of these three metastases, which sustains after more than 3 years. CONCLUSION: Early recognition and proper management of these oligometastatic patients may lead to motivating results in a poor prognosis disease.

Pleomorphic rhabdomyosarcoma on the chest wall which infiltrated intercostal muscles: A case report.

INTRODUCTION: Rhabdomyosarcoma (RMS) is the malignant tumor of skeletal muscles that origin from rhabdomyoblast. RMS is the most common soft tissue tumor in children, but this is a sporadic condition in adults and only 1% of any solid malignancies of an adult. The most prevalent subtype of RMS in an adult is a pleomorphic type. PRESENTATION OF CASE: We reported a case of a 57 years old woman with swelling on the left chest with pain for three years. Physical examination revealed swelling on the left chest with solid consistency and immobile. The thorax CT-scan with IV contrast suspicious soft tissue tumor on the anteromedial of the left chest wall that stuck to the left lung. DISCUSSION: Histopathological examination confirmed the pleomorphic subtype of rhabdomyosarcoma. The interdisciplinary idea was reported to be superior to a single therapeutic modality. The patient underwent an incisional biopsy. CONCLUSION: This is a case of pleomorphic rhabdomyosarcoma diagnosed base on histopathology from an incisional biopsy, and IHC performed wide excision gave satisfactory results.

High-grade pleomorphic rhabdomyosarcoma in a 60-year-old male: a case report and review of the literature.

Rhabdomyosarcoma is an aggressive malignant soft-tissue sarcoma that develop from undifferentiated mesenchymal cells. Less than 1% of all adult solid malignant cancers are sarcomas, and RMSs represent less than 2-5% of adult sarcomas.   RMS is divided into three main subtypes: Embryonal, alveolar and pleomorphic RMS (PRMS).   Most common subtype in adults is PRMS. Most common primary sites are extremities, trunk wall, and genitourinary organs. Metastasis are often found at diagnosis. 5-year overall survival rates were reported in the Surveillance, Epidemiology, and End Results database (SEER) to be 63% for pediatric patients and 27% for adults. Given the rarity of the adult PRMS, variation in its clinical presentation, characteristics of the tumor itself and the prognosis; there are very limited data available to guide the management of adults with PRMS. Herein we present a case report of pleomorphic rhabdomyosarcoma of the right thigh in a 60-year-old male who achieved a long-term survival (30 months) which was accomplished by multimodality treatment including surgery, radiotherapy, and chemotherapy.   .

Molecular characterization of a bladder pleomorphic rhabdomyosarcoma in an adult patient.

Pleomorphic rhabdomyosarcoma (PRMS) is a rare but highly aggressive soft tissue tumor, accounting for 3% of soft tissue sarcomas. PRMS is the most frequent subtype of RMS in adulthood and it is mainly located in the large muscles of the extremities, particularly the lower limbs and the trunk, more rarely in other locations especially in the bladder. At our knowledge, only six cases of adult pleomorphic rhabdomyosarcoma of the bladder have been reported in the literature. In this study, we report a case of PRMS of bladder with a very poor prognosis. In fact, the patient died a month after surgery. The tumor was characterized by poorly differentiated, medium-sized sometimes rhabdoid cells, mixed with large-sized and pleomorphic elements with evident anisonucleosis, and with large areas of necrosis. We used an extensive immunohistochemical panel to exclude other tumors much more frequently reported at this site. The positivity for myogenic markers such as actin, desmin, myogenin and MyoD1 allowed the correct diagnosis. Furthermore, since preliminary studies highlighted a series of specific molecular alterations in PMRS cell lines, we analyzed a panel of specific mutations and gene rearrangements by RT-PCR and FISH methods. We showed a copy gains of CCND1 and MALT genes in our samples, suggesting an accurate molecular characterization of PRMS to establish a better management of patients and new therapeutic opportunities.

Pleomorphic rhabdomyosarcoma of the spermatic cord and a secondary hydrocele testis: A case report.

BACKGROUND: Pleomorphic rhabdomyosarcoma (RMS) of the spermatic cord is a group of rare neoplasms, and a secondary hydrocele testis occasionally occurs. The misdiagnosis of paratesticular mass may lead to a therapeutic delay. CASE SUMMARY: A 79-year-old man presented to our clinic complaining of a 1-mo history of painless scrotal swelling. Physical examination revealed approximately a 15 cm × 10 cm × 5 cm inguinal mass with limited mobility. Contrast-enhanced magnetic resonance imaging showed a hydrocele testis, several enlarged inguinal lymph nodes, and a heterogeneously enhanced lesion with a relatively well-defined margin in the left inguinal region. Due to the imaging findings, he was diagnosed with pleomorphic RMS and received a wide resection of the mass, an inguinal incision with a high section of the left spermatic cord, and a left radical orchiectomy. He experienced local relapse 1 mo postoperatively and received radiotherapy and anlotinib hydrochloride-based immunotherapy as adjuvant therapy. The patient died 3 mo after the surgery. CONCLUSION: The optimal interventions for advanced-stage pleomorphic RMS patients should be investigated by more preclinical studies and clinical trials. Physicians need to be aware of the occurrence of pleomorphic RMS in unusual locations, especially when accompanied by a hydrocele testis.