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CONTRIBUTION OF CHROMOSOME BANDING AND MOLECULAR CYTOGENETIC ANALYSES FOR THE DIAGNOSIS OF SOFT TISSUE AND BONE TUMORS O PowerPoint Presentation
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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

synovial sarcoma
Synovial sarcoma

5’SYT

3’SYT

types of genetic findings and their relevance for differential diagnosis
Types of genetic findings and their relevance for differential diagnosis

Apr. 2001 - Mar. 2007

N=163/614

desagreement rate in patients with a pathognomonic genetic finding

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
conclusions
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