Synchronous mucinous metaplasia and neoplasia of the ovarium and fallopian tube with STK11 and KRAS mutations: a case report.

IF 3.1 3区 医学 Q1 PATHOLOGY
Miroslava Flídrová, Eva Krkavcová, Nikola Hájková, Kristýna Němejcová, Pavel Dundr, Michaela Kendall Bártů
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引用次数: 0

Abstract

Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) is a rare disorder defined as mucinous lesions affecting at least two sites in the female genital tract. We report a case of SMMN-FGT in a Caucasian 65-year-old patient with a right adnexal mass. The patient underwent radical surgery and histological examination showed mucinous ovarian carcinoma combined with mucinous metaplasia of the fallopian tube. The carcinomatous infiltration also affected the left ovary, peritoneum, and omentum. Molecular analysis revealed a shared STK11 mutation in both the ovarian carcinoma and tubal metaplasia, and other mutations (including KRAS) that differed between these tissues. The patient received adjuvant chemotherapy combined with bevacizumab. As there is limited experience with SMMN-FGT, standard diagnostic and treatment protocols have not yet been established. Although association with Peutz-Jeghers syndrome (PJS) was described, our patient had no clinical signs of PJS and the detected STK11 mutation was likely somatic.

伴有STK11和KRAS突变的卵巢和输卵管同步粘液化生和肿瘤:1例报告。
女性生殖道同步性粘液化生和瘤变(SMMN-FGT)是一种罕见的疾病,定义为影响女性生殖道至少两个部位的粘液病变。我们报告一例右附件肿块的65岁白人患者的SMMN-FGT。患者行根治性手术及组织学检查显示:粘液性卵巢癌合并输卵管粘液化生。左侧卵巢、腹膜和网膜也有癌浸润。分子分析显示,在卵巢癌和输卵管化生中存在共同的STK11突变,而在这些组织中存在不同的其他突变(包括KRAS)。患者接受辅助化疗联合贝伐单抗。由于对SMMN-FGT的经验有限,尚未建立标准的诊断和治疗方案。虽然与Peutz-Jeghers综合征(PJS)有关联,但我们的患者没有PJS的临床症状,检测到的STK11突变可能是体细胞的。
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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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