SL-28 CASE 3 Marco Gambarotti, MD Surgical Pathology Rizzoli - PowerPoint PPT Presentation

SL-28 CASE 3 Marco Gambarotti, MD Surgical Pathology Rizzoli Orthopaedic Institute

SL-28 CASE 3  Female, 30-years-old  Severe obesity  Chronic low back pain for several months  Worsening of back pain after minor spinal trauma 2 months before

Bone lesion in L3 (5.5x5x3 cm)

Soft tissue lesion in the left thigh (8x5x3.5 cm)

Thigh

L3

Differential diagnosis:  High-grade osteosarcoma  Sclerosing rhabdomyosarcoma  Metastatic carcinoma  Lymphoma (sclerosing variant)  Myoepithelial carcinoma  Angiosarcoma  Sclerosing epithelioid fibrosarcoma

MUC4 + Molecular analysis: Pos t(11;22) EWSR1-CREB3L1

 Diagnosis: Sclerosing Epithelioid Fibrosarcoma  Treatment: Neoadjuvant CT (Epi+Ifo, 2 cycles) then excision of the soft tissue mass. L3 vertebrectomy after two further cycles of CT (Etoposide and Cisplatinum)

Thigh

Thigh

Thigh

Thigh Diagnosis: Sclerosing Epithelioid Fibrosarcoma with Low-Grade Fibromyxoid Sarcoma areas and metaplastic bone (necrosis 10%)

L3

L3 (necrosis 60%)

Outcome: DOD after 2 years F.U. (lung mets, bone mets)

Sclerosing Epithelioid Fibrosarcoma  Adults (median age; 45 years)  M=F  Deep soft tissue of the limbs (+++ lower limbs) and limb girdles; rarely in bone

Sclerosing Epithelioid Fibrosarcoma  Local recurrences (30-50%)  Metastasis (> 50%) to lungs, bone, pleura, and soft tissues  About 35% of patients die of disease  Poor response to conventional chemotherapy

Sclerosing Epithelioid Fibrosarcoma Differential diagnosis:  Extraskeletal osteosarcoma  Spindle cell/sclerosing rhabdomyosarcoma  Metastatic carcinoma  Metastatic melanoma  Lymphoma (sclerosing variant)  Malignant mesothelioma  Paraganglioma  Hyalinizing plexiform leiomyoma  Ossifying fibromyxoid tumor  Epithelioid synovial sarcoma  Epithelioid sarcoma  Clear cell sarcoma  Epithelioid MPNST  Myoepithelial carcinoma  Angiosarcoma

SEF LGFMS MUC4+ ~100% ~100% EMA+ 50% 80% t(11;16)(p11;p11) FUS-CREB3L1 rare rare t(7;16)(q34;p11) FUS-CREB3L2 hybrid 95% t(11;22)(p11;q12) EWSR1-CREB3L1 most cases rare t(7;22)(q34;q12) EWSR1-CREB3L2 rare

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