Zhu Y L, Li Y, Mu J L, Liu W C, Li X, Lu H Z
Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021,China.
Zhonghua Bing Li Xue Za Zhi. 2024 Feb 8;53(2):149-154. doi: 10.3760/cma.j.cn112151-20230914-00172.
To explore the correlation between MYB/NFIB gene fusion and clinicopathological features such as tumor grade and prognosis of head and neck adenoid cystic carcinoma (ACC), and to assess the concordant rate of fluorescent in situ hybridization (FISH) with MYB and NFIB immunohistochemistry. FISH detection of MYB/NFIB gene fusion was performed on 48 head and neck ACC cases and 15 non-ACC salivary gland tumors at National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China during April 2014 and January 2020. ACC cases were divided into grade Ⅰ-Ⅱ, grade Ⅲ and high-grade transformation, according to pathological grading criteria. Prognosis, FISH results and other clinicopathological characteristics were analyzed. MYB and NFIB immunohistochemistry was performed on the 48 ACC and 15 non-ACC cases. The diagnostic accuracy of FISH and immunohistochemistry was compared. FISH detected MYB/NFIB gene fusion in 41.7% (20/48) of the ACC. Its positive rate was inversely correlated with higher pathological grades (=0.036). The higher histological grade was linked to worse progression-free survival (=0.024), whereas there was no correlation between the status of gene fusion detected by FISH and progression-free survival (=0.536). FISH didnot detect MYB/NFIB gene fusion in 15 non-ACC salivary gland tumors The specificity of diagnosing ACC is 100% for both FISH detection of gene fusion and immunohistochemical detection of MYB expression. However, the sensitivity for both methods was only about 41.7%, respectively. By combining FISH and MYB immunohistochemistry, the sensitivity for diagnosing ACC was increased to 66.7%. MYB/NFIB gene fusion has a lower detection rate in grade Ⅲ ACC and high-grade transformation ACC. Meanwhile gene fusion status is not correlated with prognosis. The sensitivity for diagnosing ACC can be improved by combining FISH and MYB immunohistochemistry.
探讨MYB/NFIB基因融合与头颈部腺样囊性癌（ACC）的肿瘤分级和预后等临床病理特征之间的相关性，并评估荧光原位杂交（FISH）与MYB和NFIB免疫组化的符合率。2014年4月至2020年1月期间，在中国医学科学院北京协和医学院肿瘤医院国家癌症中心/国家癌症临床研究中心，对48例头颈部ACC病例和15例非ACC涎腺肿瘤进行了MYB/NFIB基因融合的FISH检测。根据病理分级标准，将ACC病例分为Ⅰ-Ⅱ级、Ⅲ级和高级别转化。分析预后、FISH结果及其他临床病理特征。对48例ACC和15例非ACC病例进行了MYB和NFIB免疫组化。比较FISH和免疫组化的诊断准确性。FISH在41.7%（20/48）的ACC中检测到MYB/NFIB基因融合。其阳性率与较高的病理分级呈负相关（=0.036）。较高的组织学分级与无进展生存期较差相关（=0.024），而FISH检测的基因融合状态与无进展生存期之间无相关性（=0.536）。15例非ACC涎腺肿瘤中未检测到MYB/NFIB基因融合。基因融合的FISH检测和MYB表达的免疫组化检测对ACC诊断的特异性均为100%。然而，两种方法的敏感性分别仅约为41.7%。通过联合FISH和MYB免疫组化，ACC诊断的敏感性提高到66.7%。MYB/NFIB基因融合在Ⅲ级ACC和高级别转化ACC中的检出率较低。同时基因融合状态与预后无关。联合FISH和MYB免疫组化可提高ACC诊断的敏感性。
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