Molecular classification of cancer with the 92-gene assay in cytology and limited tissue samples

被引:7
作者
Brachtel, Elena F. [1 ]
Operana, Theresa N. [2 ]
Sullivan, Peggy S. [3 ]
Kerr, Sarah E. [4 ]
Cherkis, Karen A. [2 ]
Schroeder, Brock E. [2 ]
Dry, Sarah M. [3 ]
Schnabel, Catherine A. [2 ]
机构
[1] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[2] Biotheranostics Inc, San Diego, CA USA
[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
[4] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
关键词
gene expression profiling; biological markers; molecular targeted therapy; cytology; clinical oncology; RAPID ONSITE EVALUATION; LUNG-CANCER; PRIMARY SITE; IDENTIFICATION; VALIDATION; CARCINOMA; BRAF; VEMURAFENIB; PERFORMANCE; SPECIMENS;
D O I
10.18632/oncotarget.8449
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Background: Detailed molecular evaluation of cytology and limited tissue samples is increasingly becoming the standard for cancer care. Reproducible and accurate diagnostic approaches with reduced demands on cellularity are an ongoing unmet need. This study evaluated the performance of a 92-gene assay for molecular diagnosis of tumor type/subtype in cytology and limited tissue samples. Methods: Clinical validation of accuracy for the 92-gene assay in limited tissue samples such as cytology cell blocks, core biopsies and small excisions was conducted in a blinded multi-institutional study (N = 109, 48% metastatic, 53% grade II and III). Analytical success rate and diagnostic utility were evaluated in a consecutive series of 644 cytology cases submitted for clinical testing. Results: The 92-gene assay demonstrated 91% sensitivity (95% CI [0.84, 0.95]) for tumor classification, with high accuracy maintained irrespective of specimen type (100%, 92%, and 86% in FNA/cytology cell blocks, core biopsies, and small excisions, respectively; p = 0.26). The assay performed equally well for metastatic versus primary tumors (90% vs 93%, p = 0.73), and across histologic grades (100%, 90%, 89%, in grades I, II, and III, respectively; p = 0.75). In the clinical case series, a molecular diagnosis was reported in 87% of the 644 samples, identifying 23 different tumor types and allowing for additional mutational analysis in selected cases. Conclusions: These findings demonstrate high accuracy and analytical success rate of the 92-gene assay, supporting its utility in the molecular diagnosis of cancer for specimens with limited tissue.
引用
收藏
页码:27220 / 27231
页数:12
相关论文
共 28 条
  • [1] Template for Reporting Results of Biomarker Testing of Specimens From Patients With Non-Small Cell Carcinoma of the Lung
    Cagle, Philip T.
    Sholl, Lynette M.
    Lindeman, Neal I.
    Alsabeh, Randa
    Divaris, Dimitrios X. G.
    Foulis, Philip
    Lee, Gemma
    Neal, Joel W.
    Nowak, Jan A.
    Yu, Peter P.
    [J]. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 2014, 138 (02) : 171 - 174
  • [2] Lung Cancer Biomarkers Present Status and Future Developments
    Cagle, Philip T.
    Allen, Timothy Craig
    Olsen, Randall J.
    [J]. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 2013, 137 (09) : 1191 - 1198
  • [3] Targeting tyrosine kinases in cancer The Converging Roles of Cytopathology and Molecular Pathology in the Era of Genomic Medicine
    Dumur, Catherine I.
    Idowu, Michael O.
    Powers, Celeste N.
    [J]. CANCER CYTOPATHOLOGY, 2013, 121 (02) : 61 - 71
  • [4] Performance and Clinical Evaluation of the 92-Gene Real-Time PCR Assay for Tumor Classification
    Erlander, Mark G.
    Ma, Xiao-Jun
    Kesty, Nicole C.
    Bao, Lei
    Salunga, Ranelle
    Schnabel, Catherine A.
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2011, 13 (05) : 493 - 503
  • [5] Molecular Gene Expression Profiling to Predict the Tissue of Origin and Direct Site-Specific Therapy in Patients With Carcinoma of Unknown Primary Site: A Prospective Trial of the Sarah Cannon Research Institute
    Hainsworth, John D.
    Rubin, Mark S.
    Spigel, David R.
    Boccia, Ralph V.
    Raby, Samuel
    Quinn, Raven
    Greco, F. Anthony
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2013, 31 (02) : 217 - 223
  • [6] Circulating Tumor DNA as a Liquid Biopsy for Cancer
    Heitzer, Ellen
    Ulz, Peter
    Geigl, Jochen B.
    [J]. CLINICAL CHEMISTRY, 2015, 61 (01) : 112 - 123
  • [7] Additional diagnostic value of tumor markers in cytological fluid for diagnosis of non-small-cell lung cancer
    Hur, Jin
    Lee, Hye-Jeong
    Nam, Ji Eun
    Kim, Young Jin
    Hong, Yoo Jin
    Kim, Hee Yeong
    Kim, Se Kyu
    Chang, Joon
    Kim, Joo-Hang
    Chung, Kyung Young
    Lee, Hye Sun
    Choi, Byoung Wook
    [J]. BMC CANCER, 2012, 12
  • [8] Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations
    Hyman, David M.
    Puzanov, Igor
    Subbiah, Vivek
    Faris, Jason E.
    Chau, Ian
    Blay, Jean-Yves
    Wolf, Juergen
    Raje, Noopur S.
    Diamond, Eli L.
    Hollebecque, Antoine
    Gervais, Radj
    Elena Elez-Fernandez, Maria
    Italiano, Antoine
    Hofheinz, Ralf-Dieter
    Hidalgo, Manuel
    Chan, Emily
    Schuler, Martin
    Lasserre, Susan Frances
    Makrutzki, Martina
    Sirzen, Florin
    Veronese, Maria Luisa
    Tabernero, Josep
    Baselga, Jose
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (08) : 726 - 736
  • [9] Ilie M, 2014, ANN TRANSL MED, V2, DOI 10.3978/j.issn.2305-5839.2014.08.11
  • [10] Carcinoma of Unknown Primary Site
    Guntinas-Lichius, Orlando
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (21) : 2039 - 2040