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一例伴有KRAS外显子2突变的输卵管低级别肠型黏液性肿瘤。

A case of low-grade intestinal-type mucinous neoplasm of the fallopian tube with KRAS exon 2 mutation.

作者信息

Nagahama Kiyotaka, Isomura Aya, Hayashi Akimasa, Momomura Mai, Kobayashi Yoichi, Shibahara Junji

机构信息

Department of Pathology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, Japan.

Department of Obstetrics and Gynecology, Kyorin University School of Medicine, 6 -20-2 Shinkawa, Mitaka, Tokyo 181-8611, Japan.

出版信息

Gynecol Oncol Rep. 2023 Aug 3;49:101252. doi: 10.1016/j.gore.2023.101252. eCollection 2023 Oct.

Abstract

Several types of mucinous lesions of the fallopian tube have been reported, including metaplastic and neoplastic lesions, most of which exhibit gastric phenotypes. Here, we report a unique case of a mucinous tumor arising in the right fallopian tube of a 36-year-old female who presented with refractory abdominal pain for approximately one year. Abdominal CT and MRI found a cystic lesion leading to the diagnosis of hematosalpinx, thus right salpingo-oophorectomy and appendectomy were performed. Macroscopic findings included cystic dilatation of the distal portion of the right fallopian tube, filled with gelatinous mucin. Histologically, mucinous columnar cells proliferated in papillary configurations in the cystic region without invasion, resembling low-grade appendiceal mucinous neoplasms. Immunohistochemical analysis revealed that the neoplastic cells expressed CDX-2 and SATB2, but not WT-1, PAX8, ER, PgR, or claudin 18. Sanger sequencing of the mucinous lesion identified a KRAS exon 2 mutation (p.G12A), confirming similar pathologic and genetic characteristics to ovarian mucinous borderline tumors. This rare low grade intestinal-type mucinous tumor indicates the fallopian tube epithelium can give rise to tumors resembling low-grade appendiceal mucinous neoplasms and cause pseudomyxoma peritonei without appendiceal lesions.

摘要

已有多种类型的输卵管黏液性病变的报道,包括化生和肿瘤性病变,其中大多数表现为胃型。在此,我们报告一例独特的病例,一名36岁女性右侧输卵管发生黏液性肿瘤,该患者出现顽固性腹痛约一年。腹部CT和MRI发现一个囊性病变,诊断为输卵管积血,因此进行了右侧输卵管卵巢切除术和阑尾切除术。大体检查结果包括右侧输卵管远端囊性扩张,充满胶冻状黏液。组织学上,黏液柱状细胞在囊性区域呈乳头状增生,无浸润,类似于低级别阑尾黏液性肿瘤。免疫组化分析显示,肿瘤细胞表达CDX-2和SATB2,但不表达WT-1、PAX8、ER、PgR或claudin 18。对黏液性病变进行Sanger测序,发现KRAS外显子2突变(p.G12A),证实其病理和基因特征与卵巢黏液性交界性肿瘤相似。这种罕见的低级别肠型黏液性肿瘤表明,输卵管上皮可发生类似于低级别阑尾黏液性肿瘤的肿瘤,并导致腹膜假黏液瘤而无阑尾病变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c697/10424131/0ba363d474c2/gr1.jpg

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Pseudomyxoma peritonei originating from an intestinal duplication.源于肠重复畸形的腹膜假黏液瘤。
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k-ras mutation may be an early event in mucinous ovarian tumorigenesis.
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