Detection of specific genetic abnormalities by fluorescence in situ hybridization in soft tissue tumors.
Pathol Int
; 62(1): 16-27, 2012 Jan.
Article
in En
| MEDLINE
| ID: mdl-22192800
ABSTRACT
For the detection of chromosome translocations/chimeric genes and specific genetic abnormalities in soft tissue tumors, we conducted fluorescence in situ hybridization (FISH) analysis on 280 cases of soft tissue and other tumors using formalin-fixed paraffin-embedded tissue sections. The detection rate of the FISH split-signal was 84% (129/154 cases) for the translocation-associated soft tissue tumors, such as Ewing's sarcoma/primitive neuroectodermal tumor, synovial sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, clear cell sarcoma and so forth. Positive split-signals from EWSR1, SS18 and FOXO1A probes were detected in 3% (2/64) of various histological types of carcinoma, lymphoma, melanoma, meningioma and soft tissue tumors. In FISH using the INI1/CEP22 probe, the INI1 deletion signal was detected in 100% (9/9) of epithelioid sarcoma. In well-differentiated and dedifferentiated liposarcomas, detection of MDM2 amplification signals in FISH using the MDM2/CEP12 probe were both as high as 85% (11/13) and 100% (13/13), respectively. In other adipocytic and non-adipocytic tumors requiring differentiation from these types, detection was only 13% (5/39), and CEP12 polysomy was frequently detected. As these results demonstrate the high sensitivity and specificity of FISH, we concluded FISH to be a useful pathological diagnostic adjunct for definite and differential diagnosis of soft tissue tumors.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sarcoma
/
Translocation, Genetic
/
In Situ Hybridization, Fluorescence
/
Neoplasms, Connective and Soft Tissue
Type of study:
Diagnostic_studies
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Pathol Int
Journal subject:
PATOLOGIA
Year:
2012
Document type:
Article
Affiliation country:
Japan
Publication country:
AU
/
AUSTRALIA
/
AUSTRÁLIA