Salivary gland polymorphous adenocarcinoma: Clinicopathological features and gene alterations in 36 Japanese patients
Salivary gland polymorphous adenocarcinoma: Clinicopathological features and gene alterations in 36 Japanese patients
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DOI：
10.1111/jop.13336
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发表时间：
2022-08-15
影响因子：
3.3
通讯作者：
Nagao，Toru
中科院分区：
文献类型：
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作者：
Fukumura，Masahiro;Ishibashi，Kenichiro;Nagao，Toru
背景：多形态腺癌是西方国家常见的口腔内小唾液腺癌，但在日本极为罕见。本研究旨在描述日本多形腺癌患者中多形腺癌相关基因（如prkd1 /2/3、ARID1A和ddx3x）的临床病理特征和分子改变状态。方法对36例日本涎腺多形性腺癌患者和26例组织病理学模拟患者进行分析。为了检测基因分裂，对多形性腺癌相关基因进行了荧光原位杂交。此外，我们应用SNaPshot多重检测来鉴定prkd1热点突变。结果多形性腺癌临床病程缓慢，10年总生存率高（92.9%），偶有局部复发和颈部淋巴结转移（23.3%）。20例（55.6%）多形腺癌（但没有一例模拟）表现出至少一种多形腺癌相关基因的改变。多形性腺癌相关基因重排和prkd1e710d重排分别在17例（47.2%）和4例（11.1%）中发现；1例prkd3split和prkd1e710d共存。在多因素分析中，高临床分期（p= 0.0005）、核核突出（p= 0.0003）和arid1asplit阳性（p= 0.004）是无病生存的独立危险因素。结论日本多形性腺癌患者的临床病理特征与西方国家相似。本研究揭示了多形性腺癌相关的遗传改变在多形性腺癌中是常见的和特殊的发现。本文提出了多形性腺癌相关基因改变在多形性腺癌中的诊断作用和可能的预后意义。
BackgroundPolymorphous adenocarcinoma is a common intraoral minor salivary gland carcinoma in Western countries but is extremely rare in Japan. The current study aimed to characterize the clinicopathological features and status of molecular alterations of polymorphous adenocarcinoma‐associated genes, such asPRKD1/2/3,ARID1A, andDDX3X, in a large cohort of Japanese patients with polymorphous adenocarcinoma.MethodsWe examined the cases of 36 Japanese patients with salivary gland polymorphous adenocarcinoma and 26 cases involving histopathological mimics. To detect gene splits, fluorescence insituhybridization was carried out for polymorphous adenocarcinoma‐associated genes. Additionally, we applied a SNaPshot multiplex assay to identifyPRKD1hotspot mutations.ResultsThis study revealed the indolent clinical course of polymorphous adenocarcinoma with a high 10‐year overall survival rate (92.9%), accompanied by occasional local recurrences and cervical lymph node metastasis (23.3%). Twenty cases (55.6%) of polymorphous adenocarcinoma (but none of the mimics) exhibited alterations in at least one polymorphous adenocarcinoma‐associated gene. Rearrangement of polymorphous adenocarcinoma‐associated genes andPRKD1E710D were identified in 17 (47.2%) and 4 (11.1%) cases, respectively; one case showed coexistingPRKD3split andPRKD1E710D. In the multivariate analysis, high clinical stage (p= 0.0005), the presence of prominent nucleoli (p= 0.0003), andARID1Asplit positivity (p= 0.004) were independent risk factors for disease‐free survival.ConclusionJapanese patients with polymorphous adenocarcinoma showed clinicopathological features similar to those reported in Western countries. This study disclosed that polymorphous adenocarcinoma‐associated genetic alterations were common and specific findings in polymorphous adenocarcinomas. The diagnostic role and possible prognostic significance of polymorphous adenocarcinoma‐associated genetic alterations in polymorphous adenocarcinomas were suggested.