دورية أكاديمية
RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison.
| العنوان: | RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison. |
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| المؤلفون: | Bridge JA; From the Division of Cytogenetic and Molecular Pathology, ProPath, Dallas, Texas (Bridge).; the Department of Pathology & Microbiology, University of Nebraska Medical Center, Omaha (Bridge)., Halling KC; the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Halling)., Moncur JT; the Office of the Director, The Joint Pathology Center, Silver Spring, Maryland (Moncur)., Souers RJ; the Biostatistics Department, College of American Pathologists, Northfield, Illinois(Souers)., Hameed MR; the Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York (Hameed)., Fernandes H; the Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York (Fernandes)., Roy A; the Department of Pathology, Texas Children's Hospital and Baylor College of Medicine, Houston(Roy, Lopez-Terrada)., Surrey L; Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Surrey)., Tafe LJ; Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire (Tafe)., Vasalos P; Proficiency Testing, College of American Pathologists, Northfield, Illinois (Vasalos)., Lopez-Terrada DH; the Department of Pathology, Texas Children's Hospital and Baylor College of Medicine, Houston(Roy, Lopez-Terrada).; the Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston (Lopez-Terrada). |
| المصدر: | Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2024 May 01; Vol. 148 (5), pp. 538-544. |
| نوع المنشور: | Journal Article; Comparative Study |
| اللغة: | English |
| بيانات الدورية: | Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Northfield, Ill. : College of American Pathologists Original Publication: Chicago, American Medical Assn. |
| مواضيع طبية MeSH: | Laboratory Proficiency Testing* , High-Throughput Nucleotide Sequencing*, Humans ; Oncogene Proteins, Fusion/genetics ; Sequence Analysis, RNA ; Neoplasms/genetics ; Neoplasms/diagnosis ; Gene Fusion ; Sensitivity and Specificity |
| مستخلص: | Context: Next-generation sequencing-based approaches using RNA have increasingly been used by clinical laboratories for the detection of fusion genes, intragenic rearrangements, and exon-skipping events. Correspondingly, the College of American Pathologists (CAP) has advanced RNA sequencing proficiency testing (PT) to ensure optimal performance of these assays. Objective: To report on laboratory performance and practices of RNA sequencing for the detection of fusion genes, intragenic rearrangements, and exon-skipping events using CAP PT data from 8 mailings (2018-A through 2021-B). Design: CAP PT RNA sequencing program results from 153 laboratories across 24 proficiency test specimens, interrogating 22 distinct engineered fusion transcripts, were analyzed for correct identification of the fusion event, associated performance variables, and laboratory practices. Results: Overall, the 4-year program detection rate (sensitivity) was 95.5% (1486 of 1556 results). False-negative rates were 3.6% (53 of 1463) and 18.3% (17 of 93) for fusion gene and intragenic rearrangement/exon-skipping events, respectively. Only 19 false-positive results were reported among the 8 PT mailings, and most were likely the result of preanalytical or postanalytical errors. There were no practice characteristics (eg, instrumentation, sequencing method) significantly associated with the fusion detection results. Conclusions: These data reveal a high overall sensitivity and specificity for fusion gene detection by participating laboratories using clinical RNA sequencing. Performance was comparable across all laboratories, regardless of methodology. The fraction of false-negative results for intragenic rearrangement/exon-skipping events was greater than that for the chimeric fusion genes. False-negative results could not be attributed to any specific practice characteristics. Competing Interests: The identification of specific products or scientific instrumentation is considered an integral part of the scientific endeavor and does not constitute endorsement or implied endorsement on the part of the author, Department of Defense (DoD), or any component agency. The views expressed in this article are those of the authors and do not reflect the official policy of the Department of Army/Navy/Air Force, DoD, or US government. (© 2024 College of American Pathologists.) |
| المشرفين على المادة: | 0 (Oncogene Proteins, Fusion) |
| تواريخ الأحداث: | Date Created: 20230803 Date Completed: 20240425 Latest Revision: 20240425 |
| رمز التحديث: | 20240426 |
| DOI: | 10.5858/arpa.2023-0047-CP |
| PMID: | 37535666 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1543-2165 |
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| DOI: | 10.5858/arpa.2023-0047-CP |