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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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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
3’EWS 5’EWS Ewing’s sarcoma/PNET
5’FKHR 3’FKHR Alveolar rhabdomyosarcoma with PAX7-FKHR Bone marow; no primary tumor found
Atypical lipoma/Well-differentiated liposarcoma Ampl. MDM2/CDK4 5’CHOP 3’CHOP
Myxoid/round cell liposarcoma 5’CHOP 3’CHOP
Synovial sarcoma 5’SYT 3’SYT
Types of genetic findings and their relevance for differential diagnosis Apr. 2001 - Mar. 2007 N=163/614
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
Patients with informative but not pathognomonic genetic findings
Patients with informative genetic findingsdecisive for differential diagnosis
Patients with informative genetic findingscompatible with morphologic diagnosis
Patients with informative genetic findingsnot compatible with morphologic diagnosis
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