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, PhDDepartment of Pathology
Portuguese Oncology Institute, Porto, Portugal
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/EWSERG/EWS
Alveolar rhabdomyosarcoma t(2;13)(q35;q14)t(1;13)(p36;q14)
PAX3/FKHRPAX7/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
Ewing’s sarcoma/PNET
3’EWS5’EWS
Alveolar rhabdomyosarcoma with PAX7-FKHR Bone marow; no primary tumor found
3’FKHR5’FKHR
Differential diagnosis: Lipomatous tumors
Tumor type Cytogenetics
Lipoma 12q13~15 changes6p changes13q 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
Atypical lipoma/Well-differentiated liposarcoma
5’CHOP3’CHOP
Ampl. MDM2/CDK4
Myxoid/round cell liposarcoma
5’CHOP3’CHOP
Differential diagnosis: Fusocellular sarcomas
Tumor type Cytogenetics
Synovial sarcoma t(X;18)(p11;q11)
Fibrosarcoma Complex karyotype
Malign. perypheral nerve sheath t. Complex karyotype
Synovial sarcoma
5’SYT3’SYT
6942%
4025%
5433%
Pathognomonic
Informative
Non-specific
Types of genetic findings and their relevance for differential diagnosis
N=163/614
Apr. 2001 - Mar. 2007
Patients with a pathognomonic genetic finding
1726%
1420%
1116%
46%
23%
23%
11%
11%
11%
11%
1522%
Well-differentiatedliposarcomaEwing's sarcoma/PNET
Synovial sarcoma
Myxoid/round cellliposarcomaAlveolarrhabdomyosarcomaLipoma
Benign schwanoma
Extraskeletal myxoidchondrosarcomaDermatofibrosarcomaprotuberansLung hamartoma
Clear cell sarcoma
2
1
5
2
1
11
1
1
1
2
1
2
2
10
12
12
14
58
0% 20% 40% 60% 80% 100%
Extraskeletal myxoid chondrosarcoma
Dermatofibrosarcoma protuberans
Lung hamartoma
Lipoma
Clear cell sarcoma
Benign schwanoma
Alveolar rhabdomyosarcoma
Myxoid/round cell liposarcoma
Well-differentiated liposarcoma
Synovial sarcoma
Ewing's sarcoma/PNET
Total
Desagreement rate in patients with a pathognomonic genetic finding
2 ERMS
Extraskel. myxoid chondrosarcoma
2 lipomas, 2 myxoidlipos; 1 MSFT
Small cell osteos.
1 myxoid lipos;1 sarcoma NOS
Patients with informative but not pathognomonic genetic findings
1128%
1333%
1639% Decisive
Compatible
Not compatible
Patients with informative genetic findingsdecisive for differential diagnosis
328%
218%
19%
19%
19%
19%
19%
19%
Lipoma
Melanoma metastasis
Fibrosarcoma
Carcinoma metastasis
Malignant schwanoma
Tendon sheathsarcomaSarcoma NOS
Malignant solitaryfibrous tumor
Patients with informative genetic findingscompatible with morphologic diagnosis
322%
214%
18%
18%
18%
18%
18%
18%
18%
18%
EmbryonalrhabdomyosarcomaCarcinoma
Renal cell carcinoma
Chondroma
GIST
Malignant fibroushystiocytomaLipoma
Ossifying myositis
PleomorphicrhabdomyosarcomaSmall cell sarcoma
Patients with informative genetic findingsnot compatible with morphologic diagnosis
424%
319%
319%
213%
213%
16%
16%
Malignant schwanoma
Extraskeletal myxoidchondrosarcoma
Ewing's sarcoma/PNET
Myxoid/round cellliposarcoma
Synovial sarcoma
Pleuropulmonar blastoma
Well-differentiatedliposarcoma
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
Thanks!
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