Koh Hyun Hee, Kim Hyunjin, Park Sujin, Do Sung-Im, Kim Hyun-Soo
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Pathology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Case Rep Oncol. 2020 Dec 9;13(3):1446-1453. doi: 10.1159/000510744. eCollection 2020 Sep-Dec.
We herein present a case of uterine cervical invasive micropapillary carcinoma (IMPC) in a 35-year-old woman. She had neither specific symptoms nor any previous gynecological history. A cervical punch biopsy revealed a high-grade squamous intraepithelial lesion and concurrent intestinal-type mucinous carcinoma. Based on the preoperative diagnosis of endocervical adenocarcinoma, she underwent radical hysterectomy with bilateral salpingo-oophorectomy and bilateral pelvic lymph node dissection. Grossly, there was an ovoid, slightly elevated mass with surface nodularity in the lower endocervix, measuring 10 × 8 mm. Histologically, the tumor consisted predominantly of tufts of tumor cells arranged in micropapillary structures devoid of fibrovascular cores and surrounded by clear, empty, lacunar spaces between tumor cell nests and stroma. The IMPC component comprised 90% of the entire tumor volume. The greatest dimension and stromal invasion depth of the IMPC were 8 and 3 mm, respectively (FIGO stage IA2). Immunostaining revealed that mucin 1 (MUC1) surrounded each micropapillary structure, indicating the reverse epithelial polarity of the glandular cells. MUC1 was localized predominantly in the stroma-facing surface of the cell clusters, accentuating the outlines of the micropapillary structures by forming a distinct, characteristic band on this surface. In addition, targeted sequencing analysis of the IMPC revealed a missense mutation (c.1633G>A). In summary, we present the clinicopathological characteristics of cervical IMPC. We demonstrate for the first time that IMPC of the uterine cervix harbors a pathogenic missense mutation in . Further investigations using larger cohorts of patients are necessary to confirm these findings.
我们在此报告一例35岁女性子宫颈浸润性微乳头状癌（IMPC）。她既没有特定症状，也没有既往妇科病史。宫颈穿刺活检显示高级别鳞状上皮内病变并同时存在肠型黏液癌。基于术前诊断为宫颈管腺癌，她接受了根治性子宫切除术、双侧输卵管卵巢切除术和双侧盆腔淋巴结清扫术。大体上，宫颈管下端有一个椭圆形、略隆起的肿块，表面有结节，大小为10×8mm。组织学上，肿瘤主要由排列成微乳头结构的肿瘤细胞簇组成，缺乏纤维血管轴心，肿瘤细胞巢与间质之间有清晰、空的腔隙。IMPC成分占整个肿瘤体积的90%。IMPC的最大直径和间质浸润深度分别为8mm和3mm（国际妇产科联盟（FIGO）IA2期）。免疫组化显示黏蛋白1（MUC1）围绕每个微乳头结构，表明腺细胞的上皮极性反转。MUC1主要定位于细胞簇面向间质的表面，通过在该表面形成一条独特的特征性带，突出了微乳头结构的轮廓。此外，对IMPC的靶向测序分析发现一个错义突变（c.1633G>A）。总之，我们展示了宫颈IMPC的临床病理特征。我们首次证明子宫颈IMPC在[具体基因]中存在致病性错义突变。需要使用更大规模的患者队列进行进一步研究以证实这些发现。
