Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature

Michelle Stoffel; Mary B Rysavy; Stephen L Rose; Jennifer Laffin; William M Rehrauer; G Reza Hafez; Christopher Flynn

doi:10.1016/j.ehpc.2018.07.004

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Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature

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Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature

Michelle Stoffel, Mary B Rysavy, Stephen L Rose, Jennifer Laffin, William M Rehrauer, G Reza Hafez and Christopher Flynn

Human Pathology: Case Reports, Vol.14, pp.41-46

11/2018

DOI: 10.1016/j.ehpc.2018.07.004

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Abstract

We report the case of a 57-year-old woman with familial adenomatous polyposis (FAP) who presented with bilateral ovarian microcystic stromal tumors (MCSTs) and a cribriform-morular variant of papillary thyroid carcinoma, as well as concurrent noninvasive endometrial adenocarcinoma. The ovarian masses were confined to the ovaries. The tumor cells were positive for nuclear expression of β-catenin. The papillary thyroid carcinoma revealed the cribriform morular architecture associated with FAP, and immunohistochemistry also showed aberrant nuclear β-catenin. The endometrial adenocarcinoma, in contrast, showed an immunophenotype of negative nuclear β-catenin. Whole exome sequencing of blood was performed, and analysis revealed a rarely reported variant in the adenomatous polyposis coli (APC) gene, c.475dupT(pTyr159Leufs*9). The concurrence of these various neoplasms within one patient could provide insights into the pathogenesis of MCST, which has only recently been described, and underscores the importance of recognizing this rare entity in the setting of FAP.

Details

Title: Subtitle: Multiple concurrent unusual neoplasms presenting in a patient with familial adenomatous polyposis: A case report and review of the literature
Creators: Michelle Stoffel - Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, 1685 Highland Avenue, Madison, WI 53705, United States
Mary B Rysavy - Department of Obstetrics and Gynecology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, United States
Stephen L Rose - Department of Obstetrics and Gynecology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI 53792, United States
Jennifer Laffin - Wisconsin State Laboratory of Hygiene, 465 Henry Mall, Madison, WI 53706, United States
William M Rehrauer - Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, 1685 Highland Avenue, Madison, WI 53705, United States
G Reza Hafez
Christopher Flynn - Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, 1685 Highland Avenue, Madison, WI 53705, United States
Resource Type: Journal article
Publication Details: Human Pathology: Case Reports, Vol.14, pp.41-46
DOI: 10.1016/j.ehpc.2018.07.004
ISSN: 2214-3300
eISSN: 2214-3300
Publisher: Elsevier Inc
Language: English
Date published: 11/2018
Academic Unit: Obstetrics and Gynecology
Record Identifier: 9983930386002771

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