Karen D. Tsuchiya
Seattle Children's
CD34Fusion geneRadiologySoft tissuePathologyPediatricsCytologyImperforate anusFibrosarcomaNeural tube defectFluorescence in situ hybridizationHydrocephalusSpina bifidaMinimally invasive proceduresETV6DiastematomyeliaSchizencephalyHoloprosencephalyFish <Actinopterygii>Variable ExpressionChromosomal AlterationsInfantile FibrosarcomaPre analyticalIn patientResponse to therapyIntellectual disabilityCD30Medicine
Publications 4
#1Valentina Nardi (Harvard University)H-Index: 26
#2Karen D. Tsuchiya (Seattle Children's)H-Index: 1
Last. Ann M Moyer (UR: University of Rochester)
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Context.— null Next-generation sequencing-based assays are increasingly used in clinical molecular laboratories to detect somatic variants in solid tumors and hematologic malignancies and to detect constitutional variants. Proficiency testing data are potential sources of information about challenges in performing these assays. null Objective.— null To examine the most common sources of unacceptable results from the College of American Pathologists Next-Generation Sequencing Bioinformatics, Hema...
#1Karen D. Tsuchiya (Seattle Children's)H-Index: 1
#2Laura J. Tafe (Dartmouth–Hitchcock Medical Center)H-Index: 15
Last. Julia A. Bridge (UNMC: University of Nebraska Medical Center)H-Index: 70
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Fluorescence in situ hybridization (FISH) has been a revolutionary adjunct tool to traditional histopathological approaches for detecting genomic abnormalities in neoplasia that aid in diagnosis, prognosis, or prediction of response to therapy. With the rise of minimally invasive procedures for obtaining lesional material for evaluation, FISH studies performed on cytologic preparations have increased in use and demonstrated value in patient care. In this chapter, the qualitative and quantitative...
#1Jessica L. Davis (UCSF: University of California, San Francisco)H-Index: 12
#2Christina M. Lockwood (UW: University of Washington)H-Index: 24
Last. Erin R. Rudzinski (Seattle Children's)H-Index: 24
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Pediatric fibroblastic/myofibroblastic lesions are a relatively common group of tumors with varying morphologies, for which the molecular mechanisms are becoming increasingly well characterized. Congenital infantile fibrosarcoma (CIFS), perhaps the most well studied of these lesions is characterized by a recurrent ETV6-NTRK3 gene fusion. However, a notable subset of locally aggressive congenital/infantile soft tissue lesions with similar morphologic features to CIFS, have not to-date, shown evid...
64 CitationsSource
#1Dan Doherty (UW: University of Washington)H-Index: 35
#2Karen D. Tsuchiya (Seattle Children's)H-Index: 1
Last. David B. Shurtleff (UW: University of Washington)H-Index: 34
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Background Visible chromosome abnormalities have been commonly reported in patients with spina bifida (myelomeningocele), particularly when associated with other malformations. Newer technologies such as array comparative genomic hybridization (CGH) have made it possible to identify smaller (submicroscopic) DNA deletions/duplications, also referred to as copy number variants (CNVs). Submicroscopic CNVs have been identified as the cause of a variety of disorders, substantially increasing the diag...