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Molecular genetic, cytogenetic, and immunohistochemical characterization of alveolar soft-part sarcoma. Implications
C Cullinane1, P S Thorner, M L Greenberg
1Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Background:
Alveolar soft-part sarcoma is a rare tumor of uncertain histogenesis.
Methods:
The authors report a patient who was studied using immunohistochemistry, cytogenetic analysis, and molecular probes for MyoD1 and MYCN (N-myc proto-oncogene).
Results:
By immunoperoxidase, the tumor was focally positive for vimentin, neuron-specific enolase, and S-100 protein but negative for muscle-specific actin, desmin, and low-molecular-weight keratin. Direct chromosome analysis of primary tumor cells using G-banded preparations yielded two clonally abnormal lines: one demonstrated trisomy 47,XX+5; the other demonstrated 46,XX,1p-,17q+. Expression of the MYCN RNA was detectable at a low level, and MYCN was single copy at the DNA level. Expression of the myogenic molecular marker MyoD1 was not detected by Northern blotting analysis.
Conclusions:
This is the first detailed study to address the molecular biology and tumor cytogenetics of alveolar soft-part sarcoma. The results of this study indicate a neurogenic origin for this unusual tumor and fail to provide support for the notion of a myogenic origin.