Symptom triad of primary cervical rhabdomyosarcomas as seen in a Nigerian tertiary hospital: A case series

Highlights

• •Primary cervical rhabdomyosarcoma is an exceptionally rare tumor.
• •A symptom triad for cervical rhabdomyosarcoma: cervical mass with uterine descent, gelatinous mucoid discharge, and bleeding.
• •Early recognition of this triad may improve the timeliness of diagnosis and management.
• •Surgical resection, followed by adjuvant chemotherapy or chemo-radiotherapy, led to positive outcomes in this case series.
• •Multidisciplinary team management, radiologic staging and immunohistochemistry were limited, highlighting key challenges.

Abstract

Introduction

Primary cervical rhabdomyosarcomas (PCR) are exceedingly rare and lack a standardized management protocol. Limited data exist about clinical presentation, pathology, and optimal treatment options. This study reviews all confirmed cases of PCR at our institution over a 12-year period.

Methods

Case notes, and pathology reports of all women diagnosed with PCR at our institution from January 1, 2011, to March 31, 2023, were retrospectively reviewed and summarized.

Results

Nine cases of PCR were identified, all of the embryonal variant. The median age at presentation was 19 years (range 3–40), with 33.3% (n = 3) of patients being children (less than 18 years) at diagnosis. All patients presented with at least one of the following symptoms: protrusion per vagina, vaginal bleeding, or vaginal discharge. Many presented with procidentia and a distinctive gelatinous, copious non-foul-smelling mucoid discharge. Surgery was the most common treatment modality, offered in 88.9% (n = 8) of cases, combined with chemotherapy in half of these. One patient received radiotherapy. One patient did not receive any form of treatment. As of April 2023, with a median follow-up of 36 months, six patients were alive with no clinical evidence of disease recurrence, one had died of disease, one died of unrelated causes, and the outcome of one patient could not be ascertained.

Conclusion

The triad of a cervical mass with procidentia, slimy mucoid discharge, and vaginal bleeding in women of reproductive age should heighten clinical suspicion for primary cervical rhabdomyosarcomas. The overall prognosis and survival rate appear to be favorable in this series.

1. Introduction

Primary cervical rhabdomyosarcomas (PCR) are an exceedingly rare and aggressive mesenchymal tumor of the cervix, accounting for a minute fraction of all cervical malignancies (Kriseman et al., 2012).

Rhabdomyosarcomas (RMS) are generally rare in adults, accounting for less than 1% of all malignancies and less than 5% of all soft tissue sarcomas in this age group (Rhabdomyosarcoma Pathology, 2025, Jadhav et al., 2023). When RMS does occur in the genitourinary tract, the uterine cervix is one of the least common sites. Some sources indicate that primary cervical rhabdomyosarcoma comprises around 0.2% to 1% of malignant tumors of the uterus affecting adult females (Jadhav et al., 2023, Kolgotrg. Cervical Rhabdomyosarcoma, 2025). Other reports mention that only about 0.5% of primary RMS in girls are found on the cervix (Kriseman et al., 2012).

Due to their rarity, there is a paucity of comprehensive data on their clinical presentation, optimal diagnostic pathways, and standardized treatment protocols, particularly in resource-limited settings. Most of the existing literature comprises isolated case reports (AlMulai et al., 2025, Jain et al., 2013, Kamel and Hasby, 2024, Jadhav et al., 2023), small case series (Li et al., 2013), or large retrospective studies primarily from developed countries (Kriseman et al., 2012, Devins et al., 2022).

The clinical diagnosis of PCR can be challenging, as its symptoms may mimic more common gynecologic cancers like carcinosarcomas. Most previous reports indicate bleeding (AlMulai et al., 2025, Jadhav et al., 2023, Li et al., 2025) and vaginal protrusion (Devins et al., 2022, Li et al., 2025) as presenting symptoms. Certain hereditary conditions, such as Li-Fraumeni syndrome, neurofibromatosis type 1, and Beckwith-Wiedemann syndrome, have been associated with rhabdomyosarcoma. (Schneider et al., 2020) Other linked syndromes include Costello, Noonan, and MEN2A. They have also been found to be associated with other tumours such as Sertoli-Leydig cell tumours of the ovary (Kriseman et al., 2012, Devins et al., 2022, Dehner et al., 2012); However, cervical rhabdomyosarcoma has been found to be associated with DICER 1 mutations (Devins et al., 2022, Dehner et al., 2012) which are also mutated in 60% of Sertoli-Leydig cell tumors. Delayed diagnosis can significantly impact prognosis, highlighting the need for increased awareness among clinicians.

Histologically, PCR is characterized by a spindle cell proliferation within an edematous stroma. They are notably hypocellular, except for areas where the cells condensed, particularly in a cambium layer directly beneath the epithelial surfaces. Scattered within this tissue were tightly packed, hypercellular foci (Höhn et al., 2020). The neoplastic cells have hyperchromatic nuclei, minimal cytoplasm, and often delicate cytoplasmic processes. Although rhabdomyoblasts—elongated or globular cells with eosinophilic cytoplasm—were occasionally present, the characteristic cytoplasmic cross-striations were a rare finding. The hypercellular foci typically contained numerous mitotic figures and apoptotic bodies, indicating rapid cell division and death. The presence of significant hemorrhage often made it difficult to identify hypercellular areas. Immunohistochemistry confirmed that the tumor cells consistently coexpressed the muscle-specific markers desmin and myogenin. (Höhn et al., 2020).

This retrospective review aims to contribute to the understanding of PCR by analyzing the clinical characteristics, diagnostic approaches, treatment modalities, and outcomes of confirmed cases at a Nigerian tertiary hospital over a 12-year period. Our specific objective is to report observed recurring symptom patterns that could aid in earlier clinical suspicion and diagnosis especially in resource limited settings where late presentation is common.

2. Methods

This was a retrospective review of confirmed cases of primary cervical rhabdomyosarcoma diagnosed at Ahmadu Bello University Teaching Hospital (ABUTH), a tertiary healthcare centre in northwestern Nigeria, between January 1, 2011, and March 31, 2023. Ethical approval for this study was obtained from the Health Research Ethics Committee of ABUTH.

The electronic histopathology records were searched for keywords (rhabdomyosarcoma, embryonal, botryoides, cervix) within these dates selected based on when the electronic capturing started. The hospital and laboratory numbers were then used to retrieve their case notes and more pathology records. Data extracted included: patient demographics (age at presentation, parity, marital status), presenting symptoms, duration of symptoms, physical examination findings, diagnostic procedures (biopsy type, imaging), surgical history, pathological findings (histological subtype, grade, immunohistochemistry results), clinical staging (if documented, according to the Intergroup Rhabdomyosarcoma Study Group (IRS) Clinical Classification System), treatment modalities received (surgery, chemotherapy, radiotherapy or a combination), and patient outcomes (recurrence, survival status, cause of death) as of April 2023. Informed consent to use clinical photographs was obtained from two patients.

Inclusion criteria were all women with histologically confirmed primary cervical rhabdomyosarcoma diagnosed within the specified timeframe. Exclusion criteria included cases that had other sites involved making it uncertain if cervix is primary, or those referred from other hospitals where the initial diagnosis and treatment were not initiated at our institution.

The demographic, clinical, and pathological characteristics of these patients were tabulated. Median and range were used for continuous variables, while frequencies and percentages were used for categorical variables.

3. Results

Over the 12-year study period, a total of nine confirmed cases of primary cervical rhabdomyosarcoma were identified from our institutional records. All nine cases were diagnosed within the latter half of the study period, specifically from 2017 onwards. All identified cases were of the embryonal variant of rhabdomyosarcoma. Case summaries are presented in Table 1.

Table 1.

Clinical and Pathological Summary of Primary Cervical Rhabdomyosarcoma Cases at ABUTH 2011–2023 (N = 9).

Case	Age (Yrs)	Parity/Gravida	Core Symptoms (VB: Vaginal Bleeding, P: Prolapse/Mass, GD: Gelatinous Discharge)	Histologic Type	Treatment Modality	F/U (Months)	Status (Apr 2023)
1	3	Nulliparous	VB, Grape-like Mass	Embryonal RMS (Botryoides)	Excision (Residual disease)	1.5	Died from disease
2	34	P6	VB, P, GD	Embryonal RMS	Vaginal Hysterectomy + BSO + Pelvic Floor Repair + VAC/VI	41	Alive, No Evidence of Disease (NED)
3	11	Nulliparous	GD, Vaginal Mass, Weight Loss	Sarcoma Botryoides	None	61	Unknown outcome
4	32	P4	VB	Cervical Embryonal RMS	Vaginal Hysterectomy + BSO	49	Alive, NED
5	16	G1	VB, P, GD, Pregnancy Symptoms	Excision, Cervical RMS	Excision (followed by no further treatment documented)	60	Died of unrelated causes
6	19	P2	VB, P, GD	Cervical/Vaginal RMS	Vaginal Hysterectomy	36	Alive, with disease (Recurrence)
7	40	P4	VB, P	Embryonal RMS (Heterologous elements)	Trachelectomy → Hysterectomy + BSO + VAC + EBRT	23	Alive, NED
8	17	P1	VB, Mass (no P), GD	Embryonal RMS	Excision Biopsy → Excision + VAC	16	Alive, NED
9	40	P8	VB, P, GD	Reviewed to Cervical RMS (from MMMT)after IGCS ECHO MDT	Abdominal Hysterectomy + BSO + CP	11	Died from disease

Abbreviations:

• •
  VB: Vaginal Bleeding.
• •
  P: Prolapse/Procidentia.
• •
  GD: Copious Gelatinous Mucoid Discharge.
• •
  RMS: Rhabdomyosarcoma.
• •
  BSO: Bilateral Salpingo-Oophorectomy.
• •
  MMMT: Malignant Mixed Mullerian Tunour.
• •
  F/U: Follow-up.
• •
  NED: No Evidence of Disease.
• •
  VAC: Vincristine, Actinomycin-D, Cyclophosphamide.
• •
  VI: Vincristine, Irinotecan.
• •
  EBRT: External Beam Radiation Therapy.
• •
  CP: Carboplatin/Paclitaxel.
• •
  IGCS ECHO – International Gynecologic Cancer Society Extension of Community Health Outcomes.

The median age at presentation was 19 years (interquartile range of 23.5 years), with a range from three to 40 years. One-third of the patients were children, diagnosed before the age of 18 years, and two of these were pre-menarche. The bimodal age distribution is as shown in Fig. 1.

Fig. 1.

Bar chart showing the bimodal age distribution.

All patients presented with at least two of the classic gynaecological symptoms: protrusion of the mass per vagina with uterine descent, vaginal bleeding, or vaginal discharge. A distinct symptom triad was observed in women of reproductive age, characterized by: a) Cervical mass with uterine descent or procidentia: A visible or palpable multinodular, polypoid, grape-like or cauliflower-like mass protruding through the vaginal introitus usually with uterine descent or procidentia; b) Gelatinous mucoid discharge: A characteristic, often copious, brownish, gelatinous vaginal discharge.; or c) Vaginal bleeding: Ranging from spotting to heavy bleeding. Representative images of clinical presentations are shown in Fig. 2, Fig. 3.

Fig. 2.

Clinical photograph during surgical excision of Case 5 showing the abnormal bleeding, prolapse, and gelatinous mucoid discharge.

Fig. 3.

Clinical photograph of Case 2 showing characteristic gelatinous mucoid discharge and procidentia.

The median duration of symptoms prior to hospital presentation was one month, with a range of four days to two months, indicating a relatively rapid progression of symptoms leading to presentation. None of these patients had documentation of previous or synchronous tumours.

Documentation of clinical staging using the Intergroup Rhabdomyosarcoma Study Group (IRS) Clinical Classification System was notably low, recorded for only two (22.2%) patients. Four patients benefited from discussion at a multidisciplinary team (MDT) meeting, all in the last three years, highlighting an increasing trend towards comprehensive care in later years. Hematoxylin and Eosin staining only was used for diagnosis in most cases (Fig. 4b and 4b). Immunohistochemistry (IHC), crucial for definitive diagnosis and subtyping of rhabdomyosarcomas, was performed in only two patients, suggesting a limitation in diagnostic capacity. Both patients had a positive Desmin (Fig. 5). Myogenin or MyoD1 was not performed in any case.

Fig. 4.

Hematoxylin-Eosin stains for Case 7: Small round blue cells (yellow arrow) with extensive heterologous elements (red arrow) in the form of hyaline cartilage differentiation. The high power view of the tumor shows rhabdomyoblast (red arrow). The rest of the tumor is composed of cells with minimal nuclear pleomorphism and vacuolated cytoplasm (yellow arrow). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 5.

Desmin immunohistochemistry for Case 7.

Regarding treatment, surgery was the primary modality employed in 88.9% (n = 8) of cases. Of these, half (n = 4) received a combination of surgery and chemotherapy. Only one patient received radiotherapy. One patient did not undergo any form of definitive treatment.

As of April 2023, with a median follow-up period of 36 months (IQR:12–60 months), the outcomes were varied. Six patients were alive with no clinical evidence of disease recurrence, indicating a favorable survival rate in this cohort. One patient unfortunately succumbed to her disease, and another died due to maternal complications during childbirth unrelated to the rhabdomyosarcoma itself. The outcome for one patient could not be ascertained from the available records and she was not traceable by available contact address and phone number.

4. Discussion

Primary cervical rhabdomyosarcomas are exceptionally rare malignancies, and our series of nine cases, all diagnosed within the last six years of the study period, aligns with the global rarity while suggesting a potential increase in recognition or incidence in our setting. While we cannot definitively identify the cause of the increase in number of cases in the latter half, we strongly postulate low index of suspicion among clinicians, poor documentation practices before the electronic medical records transition of pathology reports, and limited access to care, where patients may succumb to the disease at home or in peripheral centers before referral to ABUTH.

The predominance of the embryonal variant is consistent with findings in other reports, as it is the most common subtype of rhabdomyosarcoma occurring in the genitourinary tract (Kriseman et al., 2012, Devins et al., 2022, Dehner et al., 2012).

The median age of 19 years at presentation, with a substantial proportion (33.3%) being children, underscores the biphasic age distribution often reported for PCR, affecting both prepubertal girls and young women of reproductive age (Dehner et al., 2012). This highlights the importance of considering this diagnosis across a wide age spectrum in females presenting with relevant symptoms.

A critical finding of our study is the consistent symptom triad observed in reproductive-aged women: a cervical mass with procidentia, gelatinous copious brownish mucoid discharge, and vaginal bleeding. While individual symptoms like vaginal bleeding and discharge are common in various benign and malignant gynecologic conditions, their simultaneous occurrence, particularly with a palpable or visible cervical mass protruding from the vagina (procidentia), appears to be highly suggestive of PCR. Other literature has previously described vaginal bleeding and a mass (Kriseman et al., 2012, Li et al., 2025) but a clear description of this discharge was not reported.

This “triad” should serve as a crucial clinical red flag, prompting immediate and thorough investigation for rhabdomyosarcoma, especially in a region where access to advanced diagnostic tools might be limited. Earlier recognition based on this clinical pattern could expedite diagnosis and potentially improve outcomes. Given the lack of reliable imaging and specialized pathology services at peripheral facilities, this triad is the most consistent and accessible clinical marker identified in our series (present in all 9 cases). Highlighting this triad aims to raise the index of suspicion among primary care physicians and pediatricians, thereby facilitating earlier, life-saving referral to tertiary centers.

Others have described multiple primary tumours and mutations which we did not observe in our cohort. This could be due to limited imaging done for these patients and lack of available affordable genetic testing in our population.

The median symptom duration of one month before presentation reflects the relatively rapid growth of these tumors, often leading to early symptomatic manifestation and presentation to healthcare facilities. This short duration may offer a window for intervention, provided clinical suspicion is high.

The observed low rate of clinical staging (22.2%) and limited use of immunohistochemistry (IHC) (22.2%) in our series are concerning and indicative of challenges in a resource-limited setting. Accurate staging is paramount for guiding treatment decisions and predicting prognosis in rhabdomyosarcoma. Similarly, IHC is indispensable for differentiating rhabdomyosarcoma from other small round blue cell tumors and confirming its embryonal subtype, guiding specific therapeutic strategies. According to the World Health Organization, IHC findings unique to cervical rhabdomyosarcoma include myogenic regulatory proteins MyoD1 and myogenin as the most specific markers for rhabdomyoblastic differentiation (Höhn et al., 2020). There is also the less specific, but often positive, markers like desmin (Höhn et al., 2020). For cervical embryonal rhabdomyosarcoma, the WHO guidelines also emphasize the importance of molecular findings, such as mutations in the DICER1 gene, which can be linked to this specific tumor type (Höhn et al., 2020). Only the less specific marker desmin was done in two cases. This limits definitive pathologic confirmation in our setting.

The limited access to advanced imaging (such as Computerized Tomography/Magnetic Resonance Imaging) also impacts diagnostic work-up, clinical staging, treatment planning, and leads to suboptimal management.

The increase in multidisciplinary team discussions towards the latter half of the study, though still limited, suggests a positive trend towards multidisciplinary care, which is crucial for managing rare and complex cancers.

Despite these diagnostic and staging challenges, surgery was the cornerstone of treatment in most of our patients (88.9%), often combined with chemotherapy. This aggressive surgical approach, coupled with adjuvant chemotherapy, aligns with recommended treatment strategies for localized rhabdomyosarcoma (Merks et al., 2025). The variation in adjuvant chemotherapy regimens within this small cohort reflects the significant challenges encountered in providing standardized, guideline-concordant care in resource-limited settings. This reflects the absence of a single institutional guideline and the reliance on individual clinician preferences and available drug supply at the time of care, a common challenge in low-resource environments.

Follow up was limited to April 2023. This was due to case notes’ movement to electronic medical records and the loss of contact information of these patients have made further follow-up impossible. The favorable survival outcome in six of the nine patients, with no clinical evidence of recurrence at a median follow-up of 36 months, suggests that even in a resource-constrained environment, appropriate surgical excision combined with chemotherapy can lead to good results.

5. Conclusion

Primary cervical rhabdomyosarcomas are rare but aggressive tumors. Our findings from a Nigerian tertiary hospital highlight an increasing frequency of diagnosis in recent years. The consistent symptom triad of a cervical mass with procidentia, gelatinous mucoid discharge, and vaginal bleeding, particularly in women of reproductive age, should serve as a heightened clinical suspicion for PCR. We are not proposing a universal, pathognomonic triad for all cervical rhabdomyosarcomas globally. Instead, we argue that this specific constellation of symptoms serves as a crucial “clinical red flag” for this rare malignancy in our specific, resource-constrained setting.

While challenges in comprehensive staging and advanced diagnostics persist, aggressive surgical management combined with chemotherapy appears to yield favorable outcomes. Enhanced clinical awareness and improved diagnostic infrastructure are crucial for optimizing the management and prognosis of these rare tumors in similar settings.

Financial support

No financial support was received for this publication.

Consent statement

Written informed consent was obtained from the patients for publication of this case report and accompanying images.

CRediT authorship contribution statement

Aisha Mustapha: Writing – original draft, Methodology, Data curation, Conceptualization. Hauwa Gumbi: Writing – review & editing, Data curation. Asma Irshad: Writing – review & editing. Anisah Yahya: Writing – review & editing. Halima Aliyu: Writing – review & editing, Data curation. Kamarudeen Sani: Writing – review & editing, Data curation. Jovanka Ravix: Writing – review & editing. Maurice J. Chery: Writing – review & editing, Supervision. Adekunle Oguntayo: Writing – review & editing, Supervision. Matthew Schlumbrecht: Writing – review & editing, Supervision.

Declaration of competing interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.