Bone and Soft Tissue Sarcomas

Associations or Risk Factors EWS

• ???
• Consistent cytogenetic abnormality, t(11;22)(q24;q12) present in 90-95%
• resultant fusion gene is EWS/FLI-1
• Also seen:
• t(21;22)(q22;q12)  5-10% EWS/ERG
• t(7;22) and t(17;22)  the remainder EWS/ETV1 and EWS/E1AF respectively
• t(1;16)(q21;q13) present along with t(11;22)

Clinical Presentation EWS

• Pain & swelling of affected area
• May also have systemic symptoms:
• Fever
• Anemia
• Weight loss
• Elevated WBC & ESR
• Mean duration of symptoms 9 months
• 20-25% present with metastatic disease
• Lungs (38%)
• Bone (31%)
• Bone Marrow (11%)

Location EWS

• central axis (47%):
• pelvis, chest wall, spine, head & neck
• extremities (53%)
• #1 Femur
• #2 Ilium
• #3 Tibia/Fibula

Location EWS

• Classical presentation is diaphyseal
• Actually more common in metadiaphysis or metaphysis

Diagnostic Work-Up EWS

• History and physical examination
• Laboratory tests:
• CBC, liver/kidney function tests, LDH, ESR
• Urinalysis
• Pathology
• Bone marrow aspirate and biopsy
• Biopsy (open preferred)

• Radiologic tests
• Plain films of primary site
• CT/MRI of primary site
• CXR/CT of chest
• Whole body bone scan
• PET scan (in future)
• Pre-therapy evaluation also includes echocardiogram/EKG

Radiographs EWS

• Destructive
• Poorly Marginated
• Permeative
• Endosteal Cortical Erosion
• Layered periosteal new bone
• “Onion skinning”

Radiographs EWS

Radiology EWS

• Large soft tissue mass
• MRI necessary to determine
• Soft tissue extent
• Intraosseous extent