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  • Author: Sanam Loghavi x
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Sanam Loghavi, Mark J. Routbort, Keyur P. Patel, Rajyalakshmi Luthra, Wei-Lien Wang, Russell R. Broaddus, Michael A. Davies and Alexander J. Lazar

Understanding of the genetic basis and molecular pathogenesis of cancer has evolved substantially over the past century. The advent of high-throughput gene sequencing methods has unraveled hundreds of recurrent somatic genetic alterations in various malignancies, either causative or harboring major prognostic and/or predictive implications. Knowledge of these specific changes has dramatically altered diagnostic and therapeutic approaches to cancer, enabling personalized molecular therapies. This article shares approaches to adopting and fine-tuning the practice of molecular diagnostics as an essential component of diagnostic pathology in a tertiary care cancer hospital and proposes methods by which genetic testing in cancer can become standard of care in pathology departments across the nation.

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Sanjeev Kumar Gupta, Nitin Jain, Guilin Tang, Andrew Futreal, Sa A. Wang, Joseph D. Khoury, Richard K. Yang, Hong Fang, Keyur P. Patel, Rajyalakshmi Luthra, Mark Routbort, Bedia A. Barkoh, Wei Chen, Xizeng Mao, Jianhua Zhang, L. Jeffrey Medeiros, Carlos E. Bueso-Ramos and Sanam Loghavi

RNA-seq was used to identify the partner gene and confirm the presence of a BCR-PDGFRB fusion. Identification of this fusion product resulted in successful treatment and long-term remission of this myeloid neoplasm. Based on our results, we suggest that despite current WHO recommendations, screening for PDGFRB rearrangement in cases of leukocytosis with eosinophilia and no other etiologic explanation is necessary, even if the karyotype is normal.