TY - JOUR
T1 - SISH/CISH or qPCR as alternative techniques to FISH for determination of HER2 amplification status on breast tumors core needle biopsies
T2 - A multicenter experience based on 840 cases
AU - Jacquemier, Jocelyne
AU - Spyratos, Frédérique
AU - Esterni, Benjamin
AU - Mozziconacci, Marie Joëlle
AU - Antoine, Martine
AU - Arnould, Laurent
AU - Lizard, Sarab
AU - Bertheau, Philippe
AU - Lehmann-Che, Jacqueline
AU - Fournier, Cécile Blanc
AU - Krieger, Sophie
AU - Bibeau, Frédéric
AU - Lamy, Pierre Jean
AU - Chenard, Marie Pierre
AU - Legrain, Michèle
AU - Guinebretière, Jean Marc
AU - Loussouarn, Delphine
AU - MacGrogan, Gaëtan
AU - Hostein, Isabelle
AU - Mathieu, Marie Christine
AU - Lacroix, Ludovic
AU - Valent, Alexander
AU - Robin, Yves Marie
AU - Revillion, Françoise
AU - Triki, Magali Lacroix
AU - Seaume, Aline
AU - Salomon, Anne Vincent
AU - de Cremoux, Patricia
AU - Portefaix, Geneviève
AU - Xerri, Luc
AU - Vacher, Sophie
AU - Bièche, Ivan
AU - Penault-Llorca, Frédérique
N1 - Funding Information:
The main objective of this multicenter study, based on large series of patients, was to prospectively compare the performance level of the CISH, SISH and qPCR alternative techniques on core biopsy specimens with the “gold standard FISH” for evaluation of HER2 amplification status. The second objective was to conduct a medico-economic study, which is not reported in this paper. This study was conducted by 15 hospitals homogeneously distributed throughout France in the framework of a project entitled "Support Program for Costly Diagnostic and Therapeutic Innovations" supported by the French Institute of Cancer (INCa).
PY - 2013/7/22
Y1 - 2013/7/22
N2 - Background: Until now, FISH has been the gold standard technique to identify HER2 amplification status in ambiguous cases of breast cancer. Alternative techniques have been developed to increase the capacities of investigating HER2 amplification status. The aims of this multicenter study in a large series of breast cancer patients were to prospectively compare the level of performance of CISH, SISH, and qPCR alternative techniques on paraffin-embedded core biopsies with " gold standard FISH" for evaluation of HER2 amplification status.Methods: This study was performed on 840 cases scored by immunohistochemistry (IHC): 0=317 (38%), 1+=183 (22%), 2+=109 (13%), 3+=231 (27%). Each of the 15 French centers participating in the study analyzed 56 breast carcinoma cases diagnosed on fixed paraffin-embedded core biopsies. HER2 amplification status was determined by commercially available FISH used as the reference technique with determination of the HER2/CEN17 ratio or HER2 copy number status. The alternative techniques performed on the same cases were commercially available SISH or CISH and a common qPCR method especially designed for the study including a set of 10 primer pairs: 2 for HER2 (exons 8 and 26), 5 to evaluate chromosome 17 polysomy TAOK1, UTP6, MRM1, MKS1, SSTR2 and 3 for diploidy control TSN, LAP3 and ADAMTS16.Results: The concordance between IHC and FISH was 96% to 95% based on the HER2/CEN17 ratio (n=766) or HER2 copy number (n=840), respectively. The concordance of the alternative techniques with FISH was excellent: 97% and 98% for SISH (498 and 587 cases), 98% and 75% for CISH (108 and 204 cases) and 95% and 93% (699 and 773 cases) for qPCR based on the HER2/CEN17 ratio or HER2 copy number, respectively. Similarly, sensitivity ranged from 99% to 95% for SISH, 100% to 99% for CISH and 89% to 80% for qPCR. The concordance with FISH (ratio) in the 2+ cases was 89% for SISH, 100% for CISH and 93% for qPCR.Conclusion: These alternative techniques showed an excellent concordance with FISH in core biopsies allowing their use in routine clinical practice. This newly designed qPCR on paraffin-embedded core biopsies deserves special attention, as it is reliable, easy to perform and less expensive than ISH tests.
AB - Background: Until now, FISH has been the gold standard technique to identify HER2 amplification status in ambiguous cases of breast cancer. Alternative techniques have been developed to increase the capacities of investigating HER2 amplification status. The aims of this multicenter study in a large series of breast cancer patients were to prospectively compare the level of performance of CISH, SISH, and qPCR alternative techniques on paraffin-embedded core biopsies with " gold standard FISH" for evaluation of HER2 amplification status.Methods: This study was performed on 840 cases scored by immunohistochemistry (IHC): 0=317 (38%), 1+=183 (22%), 2+=109 (13%), 3+=231 (27%). Each of the 15 French centers participating in the study analyzed 56 breast carcinoma cases diagnosed on fixed paraffin-embedded core biopsies. HER2 amplification status was determined by commercially available FISH used as the reference technique with determination of the HER2/CEN17 ratio or HER2 copy number status. The alternative techniques performed on the same cases were commercially available SISH or CISH and a common qPCR method especially designed for the study including a set of 10 primer pairs: 2 for HER2 (exons 8 and 26), 5 to evaluate chromosome 17 polysomy TAOK1, UTP6, MRM1, MKS1, SSTR2 and 3 for diploidy control TSN, LAP3 and ADAMTS16.Results: The concordance between IHC and FISH was 96% to 95% based on the HER2/CEN17 ratio (n=766) or HER2 copy number (n=840), respectively. The concordance of the alternative techniques with FISH was excellent: 97% and 98% for SISH (498 and 587 cases), 98% and 75% for CISH (108 and 204 cases) and 95% and 93% (699 and 773 cases) for qPCR based on the HER2/CEN17 ratio or HER2 copy number, respectively. Similarly, sensitivity ranged from 99% to 95% for SISH, 100% to 99% for CISH and 89% to 80% for qPCR. The concordance with FISH (ratio) in the 2+ cases was 89% for SISH, 100% for CISH and 93% for qPCR.Conclusion: These alternative techniques showed an excellent concordance with FISH in core biopsies allowing their use in routine clinical practice. This newly designed qPCR on paraffin-embedded core biopsies deserves special attention, as it is reliable, easy to perform and less expensive than ISH tests.
KW - CISH
KW - FISH
KW - HER2
KW - Multicenter analysis
KW - SISH
KW - qPCR
UR - http://www.scopus.com/inward/record.url?scp=84881092285&partnerID=8YFLogxK
U2 - 10.1186/1471-2407-13-351
DO - 10.1186/1471-2407-13-351
M3 - Article
C2 - 23875536
AN - SCOPUS:84881092285
SN - 1471-2407
VL - 13
JO - BMC Cancer
JF - BMC Cancer
M1 - 351
ER -