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中国鼻窦内翻性乳头状瘤和嗜酸细胞性乳头状瘤患者的 EGFR 和 KRAS 突变。

EGFR and KRAS mutations in Chinese patients with sinonasal inverted papilloma and oncocytic papilloma.

机构信息

Department of Otolaryngology, Eye, Ear, Nose and Throat Hospital, Shanghai, China.

Department of Pathology, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.

出版信息

Histopathology. 2019 Aug;75(2):274-281. doi: 10.1111/his.13868. Epub 2019 Jun 20.

DOI:10.1111/his.13868
PMID:30916792
Abstract

AIMS

Sinonasal inverted papilloma (SIP) and sinonasal oncocytic papilloma (SOP) are uncommon, benign epithelial neoplasms located in the sinonasal region, that have the potential for malignant transformation. A recent study reported that EGFR and KRAS mutations occurred in the majority of Western patients with SIP and SOP, respectively. The aims of this study were to investigate the prevalence of KRAS and EGFR mutations in Chinese SIP and SOP patients, and to study the association between molecular alterations and their clinical features.

METHODS AND RESULTS

We retrospectively collected 80 sinonasal papilloma specimens, including 44 cases with SIP, 33 cases with SOP, and three cases with mixed sinonasal papilloma, which harboured elements of both inverted and oncocytic types. Formalin-fixed paraffin-embedded tissues were used to extract genomic DNA, and EGFR and KRAS mutations were evaluated with direct Sanger sequencing. Thirty-five (78%) SIP patients harboured EGFR mutations, and all mutations were exon 20 insertions, whereas no KRAS mutations were detected. In contrast, KRAS mutations were detected in 82% of SOP patients, but no EGFR mutations were detected. Among the three mixed-type cases, two harboured both EGFR exon 20 insertions and KRAS mutations. Another case harboured a KRAS mutation, but no EGFR mutation was detected.

CONCLUSION

SIP and SOP are two clinical entities with different genetic mutational patterns of EGFR and KRAS. Mixed types with elements of both SIP and SOP may harbour both EGFR and KRAS mutations.

摘要

目的

鼻窦内翻性乳头状瘤(SIP)和鼻窦嗜酸细胞性乳头状瘤(SOP)是罕见的发生于鼻窦区域的良性上皮性肿瘤,具有恶性转化的潜能。最近的一项研究报道,EGFR 和 KRAS 突变分别发生于大多数西方 SIP 和 SOP 患者中。本研究旨在探讨 KRAS 和 EGFR 突变在中国 SIP 和 SOP 患者中的流行情况,并研究分子改变与临床特征之间的关系。

方法和结果

我们回顾性收集了 80 例鼻窦乳头状瘤标本,包括 44 例 SIP、33 例 SOP 和 3 例混合性鼻窦乳头状瘤(同时具有内翻型和嗜酸细胞型成分)。采用福尔马林固定石蜡包埋组织提取基因组 DNA,采用直接 Sanger 测序法评估 EGFR 和 KRAS 突变。35 例(78%)SIP 患者存在 EGFR 突变,所有突变均为外显子 20 插入,而未检测到 KRAS 突变。相比之下,82%的 SOP 患者检测到 KRAS 突变,但未检测到 EGFR 突变。在 3 例混合性病例中,2 例同时存在 EGFR 外显子 20 插入和 KRAS 突变,另 1 例存在 KRAS 突变,但未检测到 EGFR 突变。

结论

SIP 和 SOP 是两种具有不同 EGFR 和 KRAS 基因突变模式的临床实体。同时具有 SIP 和 SOP 成分的混合性肿瘤可能同时存在 EGFR 和 KRAS 突变。

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