Miroslava Flídrová, Eva Krkavcová, Nikola Hájková, Kristýna Němejcová, Pavel Dundr, Michaela Kendall Bártů
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Synchronous mucinous metaplasia and neoplasia of the ovarium and fallopian tube with STK11 and KRAS mutations: a case report.
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.
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.