Analysis of the Clinicopathological and Molecular Features of Appendiceal Mucinous Neoplasms
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摘要:
目的 探讨阑尾黏液性肿瘤(appendiceal mucinous neoplasms,AMNs)的临床病理及分子病理特征,比较低级别阑尾黏液性肿瘤(low grade appendiceal mucinous neoplasm,LAMN)与高级别阑尾黏液性肿瘤(high grade appendiceal mucinous neoplasm,HAMN)的差异性。 方法 回顾性分析2015年1月至2021年9月西南医科大学附属医院确诊的32例阑尾黏液性肿瘤(appendiceal mucinous neoplasms,AMNs)患者的临床病理资料,并选择10例样本进行高通量测序分析。 结果 大部分AMNs患者出现消化道肿瘤标志物阳性。HAMN患者出现远处转移、死亡的比例比LAMN患者高。AMNs突变基因主要为KRAS、GNAS、BRAF。AMNs患者普遍存在MTHFR和NQO1基因多态性。LAMN和HAMN患者的TMB均较低,两者比较差异无统计学意义(P > 0.05)。 结论 AMNs有特殊的临床病理及分子病理改变,但 HAMN与LAMN之间没有显著性差异。 Abstract:Objective To investigate the clinicopathological and molecular features of appendiceal mucinous neoplasms (AMNs), compare the differences bewteen the LAMN and HAMN. Methods 32 cases of AMNs were collected between January 2015 and September 2021. They were hospitalized in the Affiliated Hospital of Southwest Medical University. 10 samples of them were selected for Next Generation Sequencing (NGS) analysis of 425 genes. Results The majority of AMNs were female (68.8%). Most patients had positive tumor markers. The proportion of distant metastasis, recurrence and death in HAMN patients were higher than those in LAMN patients. KRAS, GNAS and BRAF gene mutations were common in AMNs patients. The SNP of MTHFR and NQO1 were common in AMNs patients. The TMB of LAMN and HAMN patients were both lower, and there was no statistical significance between them (P > 0.05). Conclusion AMNs have special clinical pathological and molecular pathological changes, but there is no significant difference between HAMN and LAMN. -
表 1 32例AMNs患者临床病理特征[n(%)]
Table 1. Clinicopathological characteristics of 32 AMNs [n(%)]
临床资料 n(%) 诊断 P LAMN HAMN 性别 0.155 男 10(31.3) 10(37.0) 0(0.0) 女 22(68.8) 17(63.0) 5(100.0) 年龄(岁) 0.637 ≤60 10(31.3) 8(29.6) 2(40.0) >60 22(68.8) 19(70.4) 3(60.0) 肿块大小(cm) 0.338 ≥5 15(46.9) 14(51.9) 1(20.0) <5 17(53.1) 13(48.1) 4(80.0) 消化道肿瘤标志物 1.000 阴性 8(30.8) 7(31.8) 1(25.0) 阳性 18(69.2) 15(68.2) 3(75.0) T分期 0.374 Tis、 T1/T2 19(59.4) 17(63.0) 2(40.0) T3/T4 13(40.6) 10(37.0) 3(60.0) 临床分期 0.578 0/Ⅰ/Ⅱ 24(75.0) 21(77.8) 3(60.0) Ⅲ/Ⅳ 8(25.0) 6(22.2) 2(40.0) 远处转移 0.578 是 8(25.0) 6(22.2) 2(40.0) 否 24(75.0) 21(77.8) 3(60.0) PMP 1.000 伴有 7(21.9) 6(22.2) 1(20.0) 不伴有 25(78.1) 21(77.8) 4(80.0) -
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