Definition/General
Introduction:
Cervical sarcoma botryoides is a rare subtype of embryonal rhabdomyosarcoma that presents as grape-like polypoid masses protruding from the cervix
It primarily affects infants and young children, representing the most common cervical malignancy in this age group.
Origin:
Arises from primitive mesenchymal cells with potential for skeletal muscle differentiation
Develops in the cervical region with characteristic polypoid, grape-like morphology
Part of embryonal rhabdomyosarcoma spectrum.
Classification:
WHO Classification categorizes as embryonal rhabdomyosarcoma, botryoid subtype
Characterized by grape-like polypoid growth pattern with cambium layer.
Epidemiology:
Extremely rare but most common cervical malignancy in infants
Peak incidence <2 years of age
Slight female predominance in cervical location
Better prognosis than other sites.
Clinical Features
Presentation:
Grape-like polypoid masses protruding from vagina/cervix
Abnormal vaginal bleeding in infants
Palpable pelvic mass
May cause urinary or bowel obstruction.
Symptoms:
Visible grape-like masses protruding from vagina
Abnormal vaginal bleeding
Pelvic pain or discomfort
Urinary retention or difficulty
Constipation.
Risk Factors:
Very young age (<2 years)
Female sex for cervical location
Genetic syndromes rare
No clear environmental risk factors.
Screening:
Clinical examination reveals characteristic grape-like masses
MRI helpful for staging
Tissue diagnosis essential for confirmation.
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Gross Description
Appearance:
Multiple grape-like, translucent polypoid masses with smooth glistening surface
Soft, gelatinous consistency
May fill entire vaginal canal.
Characteristics:
Size variable (few cm to filling pelvis)
Soft, gelatinous consistency
Translucent to pink coloration
Grape-cluster appearance
Smooth, glistening surface.
Size Location:
Arises from cervical region
Polypoid masses protrude through vagina
May extend to bladder or rectum
Pediculated attachment typical.
Multifocality:
Multiple polypoid masses typical
Grape-cluster configuration
May have single dominant mass with smaller satellite polyps.
Microscopic Description
Histological Features:
Polypoid architecture with myxoid stroma and characteristic cambium layer beneath epithelium
Primitive small round cells with variable skeletal muscle differentiation.
Cellular Characteristics:
Small round to spindle cells with high nuclear-to-cytoplasmic ratio
Primitive appearance with minimal differentiation
Occasional rhabdomyoblasts.
Architectural Patterns:
Polypoid configuration with myxoid stroma
Cambium layer (hypercellular zone beneath epithelium)
Loose myxoid background.
Grading Criteria:
Embryonal rhabdomyosarcoma by definition
Low to intermediate grade
Mitotic activity variable
Cambium layer characteristic.
Immunohistochemistry
Positive Markers:
Desmin positive
Myogenin positive (nuclear staining)
MyoD1 positive (nuclear staining)
Muscle-specific actin (MSA) positive.
Negative Markers:
Cytokeratin negative
S100 protein negative
CD99 variable
EMA negative.
Diagnostic Utility:
Myogenin and MyoD1 specific for skeletal muscle differentiation
Desmin supports muscle differentiation
Essential for confirming rhabdomyosarcoma.
Molecular Subtypes:
Embryonal rhabdomyosarcoma, botryoid subtype
No specific translocations typical of alveolar subtype.
Molecular/Genetic
Genetic Mutations:
Complex karyotype without specific translocations
Loss of heterozygosity at 11p15 common
No PAX-FOXO1 fusions (unlike alveolar type).
Molecular Markers:
Variable Ki-67 proliferation index
p53 mutations rare
Loss of imprinting at IGF2/H19 locus possible.
Prognostic Significance:
Generally favorable prognosis, especially with complete resection
Age <2 years and botryoid subtype associated with better outcomes.
Therapeutic Targets:
Multimodal therapy: surgery, chemotherapy (VAC regimen)
Conservative surgery preferred when possible to preserve function.
Differential Diagnosis
Similar Entities:
Cervical polyps
Other small round cell tumors
Adenosarcoma
Clear cell carcinoma
Yolk sac tumor.
Distinguishing Features:
Sarcoma botryoides: myogenin+, age <2 years, grape-like
Polyps: benign, older patients
Other tumors: different markers.
Diagnostic Challenges:
Recognition in very young patients
Distinction from benign polyps
Adequate tissue sampling
Skeletal muscle differentiation identification.
Rare Variants:
Mixed embryonal and botryoid features
Anaplastic areas (rare in pediatric cases)
Spindle cell predominant areas.
Sample Pathology Report
Template Format
Sample Pathology Report
Complete Report: This is an example of how the final pathology report should be structured for this condition.
Specimen Information
[specimen type], measuring [size] cm in greatest dimension
Diagnosis
[diagnosis name]
Classification
Classification: [classification system] [grade/type]
Histological Features
Shows [architectural pattern] with [nuclear features] and [mitotic activity]
Size and Extent
Size: [X] cm, extent: [local/regional/metastatic]
Margins
Margins are [involved/uninvolved] with closest margin [X] mm
Lymphovascular Invasion
Lymphovascular invasion: [present/absent]
Lymph Node Status
Lymph nodes: [X] positive out of [X] examined
Special Studies
IHC: [marker]: [result]
Molecular: [test]: [result]
[other study]: [result]
Prognostic Factors
Prognostic factors: [list factors]
Final Diagnosis
Final diagnosis: [complete diagnosis]