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Published byGarry Nash Modified over 8 years ago
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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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Differential diagnosis: Small round cell tumors
Tumor type Cytogenetics Genes Ewing’s sarcoma/PNET t(11;22)(q24;q12) t(21;22)(q22;q12) FLI1/EWS ERG/EWS Alveolar rhabdomyosarcoma t(2;13)(q35;q14) t(1;13)(p36;q14) PAX3/FKHR PAX7/FKHR Desmopl. small round cell t. t(11;22)(p13;q12) WT1/EWS Neuroblastoma del(1p), hsr, dmin MYCN Non-Hodgkin lymphoma Typical changes IG/V, TCR/V
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Ewing’s sarcoma/PNET 3’EWS 5’EWS
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Alveolar rhabdomyosarcoma with PAX7-FKHR Bone marow; no primary tumor found
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Differential diagnosis: Lipomatous tumors
Tumor type Cytogenetics Lipoma 12q13~15 changes 6p changes 13q deletions Atypical lipoma/WD liposarcoma +r/mar Lipoblastoma 8q11~13 changes Fusocellular lipoma 16q13~qter deletions Hybernoma 11q13~21 changes Liposarcoma - myxoid/round cell t(12;16)(q13;p11) - pleomorphic Complex changes
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Atypical lipoma/Well-differentiated liposarcoma
Ampl. MDM2/CDK4 5’CHOP 3’CHOP
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Myxoid/round cell liposarcoma
5’CHOP 3’CHOP
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Differential diagnosis: Fusocellular sarcomas
Tumor type Cytogenetics Synovial sarcoma t(X;18)(p11;q11) Fibrosarcoma Complex karyotype Malign. perypheral nerve sheath t.
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Synovial sarcoma 5’SYT 3’SYT
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Types of genetic findings and their relevance for differential diagnosis
Apr Mar. 2007 N=163/614
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Patients with a pathognomonic genetic finding
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Desagreement rate in patients with a pathognomonic genetic finding
2 ERMS Extraskel. myxoid chondrosarcoma 2 lipomas, 2 myxoid lipos; 1 MSFT Small cell osteos. 1 myxoid lipos; 1 sarcoma NOS
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Patients with informative but not pathognomonic genetic findings
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Patients with informative genetic findings decisive for differential diagnosis
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Patients with informative genetic findings compatible with morphologic diagnosis
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Patients with informative genetic findings not compatible with morphologic diagnosis
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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
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