Objective: 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. Methods: 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. Results: FISH detected MYB/NFIB gene fusion in 41.7% (20/48) of the ACC. Its positive rate was inversely correlated with higher pathological grades (P=0.036). The higher histological grade was linked to worse progression-free survival (P=0.024), whereas there was no correlation between the status of gene fusion detected by FISH and progression-free survival (P=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%. Conclusions: 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.
目的： 探讨头颈腺样囊性癌（ACC）的MYB/NFIB基因融合与病理分级、预后等临床病理指标的关系，并评估荧光原位杂交（FISH）检测与MYB及NFIB免疫组织化学的一致性。 方法： 收集2014年4月至2020年1月中国医学科学院 北京协和医学院肿瘤医院诊断的48例头颈ACC病例和15例非ACC涎腺肿瘤，进行MYB/NFIB基因融合FISH检测；将头颈ACC依据病理分级标准划分为Ⅰ~Ⅱ级、Ⅲ级和高级别转化；对FISH检测结果和其他临床病理指标进行预后和相关性分析。对48例头颈ACC和15例非ACC涎腺肿瘤进行MYB和NFIB免疫组织化学检测，对FISH和免疫组织化学诊断ACC的优劣性进行比较。 结果： FISH检测MYB/NFIB融合阳性的ACC占整体ACC的41.7%（20/48）。FISH检测融合阳性率与ACC的病理分级相关（P=0.036），级别越高融合阳性率越低。无进展生存期（PFS）分析中，肿瘤分级越高，预后越差（P=0.024），而FISH检测融合基因状态与PFS无相关性（P=0.536）。15例非ACC涎腺肿瘤病例MYB/NFIB融合基因FISH检测均呈阴性。FISH检测融合基因和MYB免疫组织化学高表达诊断ACC的特异度均为100%，但灵敏度均为41.7%，联合应用FISH检测和MYB免疫组织化学方法诊断ACC的灵敏度可提升至66.7%。 结论： MYB/NFIB融合基因在Ⅲ级和高级别转化ACC中FISH检出率更低，并且与预后无关；FISH检测和MYB免疫组织化学联合使用可提高诊断ACC的灵敏度。.