retroperitoneal sarcoma pathology and molecular … · the other ones • e-gist (cd117/dog1) •...
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RETROPERITONEAL SARCOMA Pathology and molecular analysis
ENRIQUE DE ALAVA
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Sarcoma diagnosis is an integrative activity
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Diagnostic possibilities
• Liposarcoma (almost 2/3) – Well differentiated /dedifferentiated – Myxoid/round cell – Pleomorphic
• Leiomyosarcoma (almost 1/3) • The other ones
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Well differentiated LPS
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Well differentiated
LPS
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dedifferentiated LPS
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Dedifferentiated LPS Look for lipomatous differentiation
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Dedifferentiated LPS, low grade
Am J Surg Pathol 1997; 21: 271-281
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Heterologous differentiation in DDLPS: 5-10%
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Well differentiated /dedifferentiated LPS show MDM2/CDK4 amplification
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DDLPS vs pleomorphic sarcoma
• Look for WD LPS areas • Do IHC and/or FISH for
MDM2/CDK4
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Impact of molecular assays on reclassification of retroperitoneal sarcomas Two examples
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Diagnostic possibilities
• Liposarcoma (almost 2/3) – Well differentiated /dedifferentiated: MDM2 – Myxoid/round cell – Pleomorphic
• Leiomyosarcoma (almost 1/3) • The other ones
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Pleomorphic liposarcoma
• 5% of liposarcomas • Extremities>retroperitoneum • High metastasis rate • No MDM2 amplification
MDM2
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Diagnostic possibilities
• Liposarcoma (almost 2/3) – Well differentiated /dedifferentiated: MDM2 – Myxoid/round cell – Pleomorphic: unusual, characteristic morphology
• Leiomyosarcoma (almost 1/3) • The other ones
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Leiomyosarcoma
• Women • 6-7th decades • Vascular, GI tract, visceral • High metastasis rate
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MSA H-Caldesmon CD117
Leiomyosarcoma
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Metastatic rate of retroperitoneal sarcomas
• Well differentiated LPS: 5% • Dedifferentiated LPS: 20% • Pleomorphic LPS: 50% • Leiomyosarcoma: 50%
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The other ones
• e-GIST (CD117/DOG1)
• Desmoid-type fibromatosis (CTNNB1)
• PEComa (Muscle+melanocytic markers)
• Solitary fibrous tumor (CD34)
• Inflammatory myofibroblastic tumor (ALK)
• MPNST • …
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Scores: 2+2+2=6 FNCLCC Grade 3
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Chibon et al. Nat Med 2010
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In conclusion • Retroperitoneal sarcoma diagnosis is
integrative. • The domain of the sample: diagnosis and
research. • Lipos and leios (mostly) • Molecular techniques: Present and future.
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Gracias! [email protected]