Abstract
The rhabdomyosarcoma (RMS) is the most common type of soft tissue tumor in children and adolescents; yet only a few screens for oncogenic mutations have been conducted for RMS. To identify novel mutations and potential therapeutic targets, we conducted a high-throughput Sequenom mass spectrometry-based analysis of 238 known mutations in 19 oncogenes in 17 primary formalin-fixed paraffin-embedded RMS tissue samples and two RMS cell lines. Mutations were detected in 31.6% (6 of 19) of the RMS specimens. Specifically, mutations in the NRAS gene were found in 27.3% (3 of 11) of embryonal RMS cases, while mutations in NRAS, HRAS, and PIK3CA genes were identified in 37.5% (3 of 8) of alveolar RMS (ARMS) cases; moreover, PIK3CA mutations were found in 25% (2 of 8) of ARMS specimens. The results demonstrate that tumor profiling in archival tissue samples is a useful tool for identifying diagnostic markers and potential therapeutic targets and suggests that these HRAS/ PIK3CA mutations play a critical role in the genesis of RMS.
Highlights
Rhabdomyosarcoma (RMS) is the most common type of soft tissue tumor in children and adolescents and can be classified as two main subtypes based on histologic and genetic criteria: the more prevalent embryonal rhabdomyosarcoma and the more aggressive alveolar rhabdomyosarcoma (EMRS and alveolar RMS (ARMS), respectively)
Mutations in the NRAS gene were found in 27.3% (3 of 11) of embryonal RMS cases, while mutations in NRAS, HRAS, and PIK3CA genes were identified in 37.5% (3 of 8) of alveolar RMS (ARMS) cases; PIK3CA mutations were found in 25% (2 of 8) of ARMS specimens
The results demonstrate that tumor profiling in archival tissue samples is a useful tool for identifying diagnostic markers and potential therapeutic targets and suggests that these HRAS/ PIK3CA mutations play a critical role in the genesis of RMS
Summary
Rhabdomyosarcoma (RMS) is the most common type of soft tissue tumor in children and adolescents and can be classified as two main subtypes based on histologic and genetic criteria: the more prevalent embryonal rhabdomyosarcoma and the more aggressive alveolar rhabdomyosarcoma (EMRS and ARMS, respectively). To identify novel mutations and potential therapeutic targets, we conducted a high-throughput Sequenom mass spectrometry-based analysis of 238 known mutations in 19 oncogenes in 17 primary formalin-fixed paraffin-embedded RMS tissue samples and two RMS cell lines. The present study used the Sequenom MassARRAY platform to conduct a high-throughput sequencing analysis of 238 known mutations across 19 oncogenes in 17 RMS tissue samples and two RMS cell lines in order to identify novel mutations involved in RMS pathogenesis.
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