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Clinicopathological implications of GNAS in Ewing sarcoma
Byeong-Joo Noh1, Ji-Youn Sung1, Youn Wha Kim1
1Department of Pathology, School of Medicine, Kyung Hee University Hospital, Seoul 02447, Republic of Korea.
Oncology Letters
|June 18, 2016
Summary
Guanine nucleotide-binding protein α stimulating (GNAS) gene mutations do not cause Ewing sarcoma (ES). GNAS methylation status and G-protein α subunit (Gsα) expression correlate, potentially aiding in differentiating ES from similar bone lesions.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Ewing sarcoma (ES) is a rare bone cancer.
- The role of guanine nucleotide-binding protein α stimulating (GNAS) gene in ES pathogenesis is unclear.
- Understanding GNAS in ES can aid in diagnosis and prognosis.
Purpose of the Study:
- To investigate the correlation between GNAS gene expression and pathognomonic signs in ES.
- To analyze GNAS mutations, methylation status, and G-protein α subunit (Gsα) expression in ES tissues.
Main Methods:
- Analysis of formalin-fixed paraffin-embedded tissues from 77 primary ES patients.
- Methylation chip assay and direct sequencing of the GNAS gene.
- Immunohistochemical analysis of Gsα expression.
Main Results:
- GNAS genes in ES tumors showed less methylation compared to normal controls.
- No mutations were detected in exons 8 or 9 of the GNAS gene.
- Gsα expression correlated with GNAS methylation status; higher Gsα expression was observed in living patients.
Conclusions:
- GNAS gene mutations are not associated with the pathogenesis of ES.
- GNAS methylation status and Gsα expression may help differentiate ES from morphologically similar metastatic bone lesions.
- Hypermethylated GNAS (low Gsα expression) in ES may indicate unfavorable progression.
