Mardekian Stacey K, Solomides Charalambos C, Gong Jerald Z, Peiper Stephen C, Wang Zi-Xuan, Bajaj Renu
Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
J Clin Lab Anal. 2015 Nov;29(6):462-8. doi: 10.1002/jcla.21794. Epub 2014 Aug 17.
Atypical lipomatous tumor/well-differentiated liposarcoma (ALT-WDLPS) and dedifferentiated liposarcoma (DDLPS) are characterized cytogenetically by a 12q13-15 amplification involving the mouse double minute 2 (MDM2) oncogene. Fluorescence in situ hybridization (FISH) is used frequently to detect this amplification and aid with the diagnosis of these entities, which is difficult by morphology alone. Recently, bright-field in situ hybridization techniques such as chromogenic in situ hybridization (CISH) have been introduced for the determination of MDM2 amplification status.
The present study compared the results of FISH and CISH for detecting MDM2 amplification in 41 cases of adipocytic tumors. Amplification was defined in both techniques as a MDM2/CEN12 ratio of 2 or greater.
Eleven cases showed amplification with both FISH and CISH, and 26 cases showed no amplification with both methods. Two cases had discordant results between CISH and FISH, and two cases were not interpretable by CISH.
CISH is advantageous for allowing pathologists to evaluate the histologic and molecular alterations occurring simultaneously in a specimen. Moreover, CISH is found to be more cost- and time-efficient when used with automation, and the signals do not quench over time. CISH technique is a reliable alternative to FISH in the evaluation of adipocytic tumors for MDM2 amplification.
非典型脂肪瘤性肿瘤/高分化脂肪肉瘤(ALT-WDLPS)和去分化脂肪肉瘤(DDLPS)在细胞遗传学上的特征是12q13-15扩增,涉及小鼠双微体2(MDM2)癌基因。荧光原位杂交(FISH)经常用于检测这种扩增,并辅助诊断这些实体,仅靠形态学诊断这些实体很困难。最近,已引入诸如显色原位杂交(CISH)等明场原位杂交技术来确定MDM2扩增状态。
本研究比较了FISH和CISH检测41例脂肪细胞性肿瘤中MDM2扩增的结果。两种技术中扩增均定义为MDM2/CEN12比值为2或更高。
11例FISH和CISH均显示扩增,26例两种方法均未显示扩增。2例CISH和FISH结果不一致,2例CISH无法解读。
CISH有利于病理学家评估标本中同时发生的组织学和分子改变。此外,发现CISH与自动化技术结合使用时更具成本效益且更节省时间,并且信号不会随时间淬灭。在评估脂肪细胞性肿瘤的MDM2扩增时,CISH技术是FISH的可靠替代方法。