PMID- 28027945
OWN - NLM
STAT- MEDLINE
DCOM- 20170615
LR  - 20181113
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Print)
IS  - 1525-1578 (Linking)
VI  - 19
IP  - 2
DP  - 2017 Mar
TI  - Next-Generation Assessment of Human Epidermal Growth Factor Receptor 2 (ERBB2) 
      Amplification Status: Clinical Validation in the Context of a Hybrid 
      Capture-Based, Comprehensive Solid Tumor Genomic Profiling Assay.
PG  - 244-254
LID - S1525-1578(16)30233-1 [pii]
LID - 10.1016/j.jmoldx.2016.09.010 [doi]
AB  - Establishing ERBB2 [human epidermal growth factor receptor 2 (HER2)] 
      amplification status in breast and gastric carcinomas is essential to treatment 
      selection. Immunohistochemistry (IHC) and fluorescence in situ hybridization 
      (FISH) constitute the current standard for assessment. With further advancements 
      in genomic medicine, new clinically relevant biomarkers are rapidly emerging and 
      options for targeted therapy are increasing in patients with advanced disease, 
      driving the need for comprehensive molecular profiling. Next-generation 
      sequencing (NGS) is an attractive approach for up-front comprehensive assessment, 
      including ERBB2 status, but the concordance with traditional methods of HER2 
      assessment is not well established. The Memorial Sloan Kettering-Integrated 
      Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) assay, a hybrid 
      capture-based NGS assay interrogating the coding regions of 410 cancer-related 
      genes, was performed on manually macrodissected unstained sections from 
      formalin-fixed, paraffin-embedded breast (n = 213) and gastroesophageal (n = 39) 
      tumors submitted for clinical mutation profiling. ERBB2 status was assessed using 
      a custom bioinformatics pipeline, and NGS results were compared to IHC and FISH. 
      NGS ERBB2 amplification calls had an overall concordance of 98.4% (248/252) with 
      the combined IHC/FISH results in this validation set. Discrepancies occurred in 
      the context of low tumor content and HER2 heterogeneity. ERBB2 amplification 
      status can be reliably determined by hybridization capture-based NGS methods, 
      allowing efficient concurrent testing for other potentially actionable genomic 
      alterations, particularly in limited material.
CI  - Copyright (c) 2017 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Ross, Dara S
AU  - Ross DS
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York. Electronic address: rossd@mskcc.org.
FAU - Zehir, Ahmet
AU  - Zehir A
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Cheng, Donavan T
AU  - Cheng DT
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Benayed, Ryma
AU  - Benayed R
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Nafa, Khedoudja
AU  - Nafa K
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Hechtman, Jaclyn F
AU  - Hechtman JF
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Janjigian, Yelena Y
AU  - Janjigian YY
AD  - Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan 
      Kettering Cancer Center, New York, New York.
FAU - Weigelt, Britta
AU  - Weigelt B
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Razavi, Pedram
AU  - Razavi P
AD  - Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan 
      Kettering Cancer Center, New York, New York.
FAU - Hyman, David M
AU  - Hyman DM
AD  - Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan 
      Kettering Cancer Center, New York, New York.
FAU - Baselga, Jose
AU  - Baselga J
AD  - Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan 
      Kettering Cancer Center, New York, New York.
FAU - Berger, Michael F
AU  - Berger MF
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Ladanyi, Marc
AU  - Ladanyi M
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Arcila, Maria E
AU  - Arcila ME
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
LA  - eng
GR  - P30 CA008748/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20161225
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (Biomarkers, Tumor)
RN  - EC 2.7.10.1 (Receptor, ErbB-2)
SB  - IM
EIN - J Mol Diagn. 2017 May;19(3):485. PMID: 28222274
MH  - Biomarkers, Tumor
MH  - Computational Biology/methods
MH  - DNA Copy Number Variations
MH  - *Gene Amplification
MH  - Genetic Testing/*methods/standards
MH  - Humans
MH  - Immunohistochemistry
MH  - Neoplasms/*diagnosis/*genetics
MH  - Receptor, ErbB-2/*genetics
MH  - Reference Standards
MH  - Reproducibility of Results
MH  - Sensitivity and Specificity
PMC - PMC5397722
EDAT- 2016/12/29 06:00
MHDA- 2017/06/16 06:00
PMCR- 2018/03/01
CRDT- 2016/12/29 06:00
PHST- 2016/03/01 00:00 [received]
PHST- 2016/08/02 00:00 [revised]
PHST- 2016/09/27 00:00 [accepted]
PHST- 2016/12/29 06:00 [pubmed]
PHST- 2017/06/16 06:00 [medline]
PHST- 2016/12/29 06:00 [entrez]
PHST- 2018/03/01 00:00 [pmc-release]
AID - S1525-1578(16)30233-1 [pii]
AID - 10.1016/j.jmoldx.2016.09.010 [doi]
PST - ppublish
SO  - J Mol Diagn. 2017 Mar;19(2):244-254. doi: 10.1016/j.jmoldx.2016.09.010. Epub 2016 
      Dec 25.