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Manuel Teixeira, MD, PhD Head of Department of Genetics Carlos Lopes, MD, PhD

CONTRIBUTION OF CHROMOSOME BANDING AND MOLECULAR CYTOGENETIC ANALYSES FOR THE DIAGNOSIS OF SOFT TISSUE AND BONE TUMORS OVER A 6-YEAR-PERIOD. Manuel Teixeira, MD, PhD Head of Department of Genetics Carlos Lopes, MD, PhD Department of Pathology Portuguese Oncology Institute, Porto, Portugal.

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Manuel Teixeira, MD, PhD Head of Department of Genetics Carlos Lopes, MD, PhD

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  1. CONTRIBUTION OF CHROMOSOME BANDING AND MOLECULAR CYTOGENETIC ANALYSES FOR THE DIAGNOSIS OF SOFT TISSUE AND BONE TUMORS OVER A 6-YEAR-PERIOD Manuel Teixeira, MD, PhD Head of Department of Genetics Carlos Lopes, MD, PhD Department of Pathology Portuguese Oncology Institute, Porto, Portugal

  2. Differential diagnosis:Small round cell tumors

  3. 3’EWS 5’EWS Ewing’s sarcoma/PNET

  4. 5’FKHR 3’FKHR Alveolar rhabdomyosarcoma with PAX7-FKHR Bone marow; no primary tumor found

  5. Differential diagnosis: Lipomatous tumors

  6. Atypical lipoma/Well-differentiated liposarcoma Ampl. MDM2/CDK4 5’CHOP 3’CHOP

  7. Myxoid/round cell liposarcoma 5’CHOP 3’CHOP

  8. Differential diagnosis: Fusocellular sarcomas

  9. Synovial sarcoma 5’SYT 3’SYT

  10. Types of genetic findings and their relevance for differential diagnosis Apr. 2001 - Mar. 2007 N=163/614

  11. Patients with a pathognomonic genetic finding

  12. Small cell osteos. 1 myxoid lipos; 1 sarcoma NOS 2 lipomas, 2 myxoid lipos; 1 MSFT Extraskel. myxoid chondrosarcoma 2 ERMS Desagreement rate in patients with a pathognomonic genetic finding

  13. Patients with informative but not pathognomonic genetic findings

  14. Patients with informative genetic findingsdecisive for differential diagnosis

  15. Patients with informative genetic findingscompatible with morphologic diagnosis

  16. Patients with informative genetic findingsnot compatible with morphologic diagnosis

  17. Conclusions • 42% of the tumors with genetic changes presented a pathognomonic chromosome alteration • Additional 25% of the tumors with genetic changes had an informative result for differential diagnosis • In 16% of the tumors presenting a pathognomonic chromosome change, the initial morphologic diagnosis was changed as a result of the cytogenetic finding • The tumor types that benefited most from the cytogenetic data for their correct diagnosis were alveolar rhabdomyosarcoma, well differentiated liposarcoma, synovial sarcoma, Ewing’s sarcoma, and myxoid liposarcoma

  18. Thanks!

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