乳腺癌中HER-2基因雙色原位雜交和螢光原位雜交比較：重點關注不確定病例的隊列研究
譯者：王瓊【qzhchl】解放軍總醫院病理科
美國臨床病理學雜誌
人表皮生長因子受體（HER2;ERBB2基因）對乳腺癌具有預後和預測的義。螢光原位雜交(FISH)和雙色原位雜交（DISH)都可檢測HER2基因。DISH和FISH在HER2基因的有效性研究中具有高度一致性，但在不確定性方面卻有普遍差異。我們的目的是在不確定病例的隊列中比較FISH和DISH檢測HER2基因的情況。隊列中有大量不確定（2+）例子。
DISH和FISH檢測用標準程序評估，從HER2狀態、HER2拷貝數和HER2/17號染色體 (Chr17) 的比值方面比較這兩種方法檢測的結果。
總共檢測109例，DISH和FISH的一致率是74%，兩者檢測的HER2/Chr17比值的平均值±標準差分別是1.63 ± 0.08（DISH)和1.59 ± 0.26(FISH)（P=0.45），HER2拷貝數的平均值±標準差分別是4.56 ± 0.45（DISH)及 4.75 ± 1.08（ FISH ）(P =0 .004)。高拷貝數的例子中單個信號用FISH方法更容易處理。
這一具有大量不確定例子的隊列中，DISH檢測的HER2拷貝數顯著降低從而產生了不一致。儘管DISH是有效的檢測方法，但FISH檢測更有望用於高度不確定的例子和質量控制中。
Comparison of HER2 Dual-Color and Fluorescence In Situ Hybridization in Breast Cancer: A Cohort Study Emphasizing Equivocal Cases.
Shao T,Wood M,Wing A,Hnatovska M,Mendes M,Brendan Mullen J,Chang MC
American Journal of Clinical Pathology； Volume 146, Issue 3,September 2016:339-45
Human epidermal growth factor receptor 2 (HER2; ERBB2 gene) is of prognostic and predictive significance in breast carcinoma. Both fluorescence in situ hybridization (FISH) and dual-color in situ hybridization (DISH) methods are available. DISH and FISH are highly concordant in validation studies, but differences may be more prevalent in the equivocal range. Our goal was to compare FISH and DISH on a cohort enriched for equivocal cases, with respect to HER2 determination.
The cohort was enriched for equivocal (2+) cases. DISH and FISH were evaluated using standard protocols and the results compared with respect to HER2 status, HER2 copy number, and HER2/chromosome 17 (Chr17) ratio.
In total, 109 cases were identified. The agreement rate of DISH with FISH was 74%. The mean ± SD HER2/Chr17 ratio by DISH was 1.63 ± 0.08 vs 1.59 ± 0.26 by FISH (P = .45). The mean ± SD HER2 copy number by DISH was 4.56 ± 0.45 vs 4.75 ± 1.08 by FISH (P = .004). Individual signals were more easily resolved using FISH in cases with higher copy numbers.
In our cohort enriched for equivocal cases, the numerical values of HER2 copy number were significantly lower using DISH, resulting in discordances. Although DISH is a valid method, variations with FISH may be expected in high-equivocal cases and in quality assurance activities.
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