Molecular pathological analysis of sarcomas using paraffin-embedded tissue: current limitations and future possibilities
Matt van de Rijn
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorXiangqian Guo
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorRobert T Sweeney
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorAndrew H Beck
Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
Search for more papers by this authorCorresponding Author
Robert B West
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Address for correspondence: R B West MD, PhD, Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA. e-mail: [email protected]Search for more papers by this authorMatt van de Rijn
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorXiangqian Guo
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorRobert T Sweeney
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Search for more papers by this authorAndrew H Beck
Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
Search for more papers by this authorCorresponding Author
Robert B West
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Address for correspondence: R B West MD, PhD, Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA. e-mail: [email protected]Search for more papers by this authorSummary
Sarcomas of soft tissue and bone are rare neoplasms that can be separated into a large number of different diagnostic entities. Over the years, a number of diagnostic markers have been developed that aid pathologists in reaching the appropriate diagnoses. Many of these markers are sarcoma-specific proteins that can be detected by immunohistochemistry in formalin-fixed, paraffin-embedded (FFPE) sections. In addition, a wide range of molecular studies have been developed that can detect gene mutations, gene amplifications or chromosomal translocations in FFPE material. Until recently, most sequencing-based approaches relied on the availability of fresh frozen tissue. However, with the advent of next-generation sequencing technologies, FFPE material is increasingly being used as a tool to identify novel immunohistochemistry markers, gene mutations, and chromosomal translocations, and to develop diagnostic tests.
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