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      Papillary cystadenoma of the epididymis

      case-report

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          ABSTRACT

          Background

          Papillary cystadenoma is a rare benign neoplasm of the epididymis. It may occur sporadically or in association with von Hippel-Lindau disease (VHLD). Papillary cystadenoma of the epididymis (PCE) is a benign mimic of metastatic clear cell renal cell carcinoma (CCRCC) given their histologic similarities.

          Case presentation

          Herein, we present the case of a 40-year-old man with a four-year history of microhematuria and a recently detected right paratesticular mass. A testicular sonogram revealed a hypoechoic, hypervascular solid mass in the right epididymal head treated by surgical excision. Histopathological examination demonstrated a 1.1 cm papillary cystadenoma of the epididymis. Genetic testing performed later showed no signs of VHLD. However, heterozygous mutations in three genes - CASR, POT1, and RAD51D - were found which have never been reported in PCE before.

          Conclusions

          Papillary cystadenoma of the epididymis should always be considered in the differential diagnosis of epididymal lesions, especially those that are cystic. The mainstay of treatment remains surgical excision, which provides an excellent prognosis.

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          Most cited references45

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          Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

          Allison Kurian, Emily Hare, Meredith Mills … (2014)
          Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample. Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample. Samples were frozen at -80° C, and DNA was extracted from them after 1 to 10 years. The entire coding region, exon-intron boundaries, and all known pathogenic variants in other regions were sequenced for 42 genes that had cancer risk associations. Potentially actionable results were disclosed to participants. In total, 198 women participated in the study: 174 had breast cancer and 57 carried germline BRCA1/2 mutations. BRCA1/2 analysis was fully concordant with prior testing. Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations. Fourteen participants carried 15 pathogenic variants, warranting a possible change in care; they were invited for targeted screening recommendations, enabling early detection and removal of a tubular adenoma by colonoscopy. Participants carried an average of 2.1 variants of uncertain significance among 42 genes. Among women testing negative for BRCA1/2 mutations, multiple-gene sequencing identified 16 potentially pathogenic mutations in other genes (11.4%; 95% CI, 7.0% to 17.7%), of which 15 (10.6%; 95% CI, 6.5% to 16.9%) prompted consideration of a change in care, enabling early detection of a precancerous colon polyp. Additional studies are required to quantify the penetrance of identified mutations and determine clinical utility. However, these results suggest that multiple-gene sequencing may benefit appropriately selected patients. © 2014 by American Society of Clinical Oncology.
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            Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

            Xin Yang, Honglin Song, Goska Leslie … (2020)
            Abstract Background The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. Methods We analyzed data from 6178 families, 125 with pathogenic variants in RAD51C, and 6690 families, 60 with pathogenic variants in RAD51D. TOC and BC relative and cumulative risks were estimated using complex segregation analysis to model the cancer inheritance patterns in families while adjusting for the mode of ascertainment of each family. All statistical tests were two-sided. Results Pathogenic variants in both RAD51C and RAD51D were associated with TOC (RAD51C: relative risk [RR] = 7.55, 95% confidence interval [CI] = 5.60 to 10.19; P = 5 × 10-40; RAD51D: RR = 7.60, 95% CI = 5.61 to 10.30; P = 5 × 10-39) and BC (RAD51C: RR = 1.99, 95% CI = 1.39 to 2.85; P = 1.55 × 10-4; RAD51D: RR = 1.83, 95% CI = 1.24 to 2.72; P = .002). For both RAD51C and RAD51D, there was a suggestion that the TOC relative risks increased with age until around age 60 years and decreased thereafter. The estimated cumulative risks of developing TOC to age 80 years were 11% (95% CI = 6% to 21%) for RAD51C and 13% (95% CI = 7% to 23%) for RAD51D pathogenic variant carriers. The estimated cumulative risks of developing BC to 80 years were 21% (95% CI = 15% to 29%) for RAD51C and 20% (95% CI = 14% to 28%) for RAD51D pathogenic variant carriers. Both TOC and BC risks for RAD51C and RAD51D pathogenic variant carriers varied by cancer family history and could be as high as 32–36% for TOC, for carriers with two first-degree relatives diagnosed with TOC, or 44–46% for BC, for carriers with two first-degree relatives diagnosed with BC. Conclusions These estimates will facilitate the genetic counseling of RAD51C and RAD51D pathogenic variant carriers and justify the incorporation of RAD51C and RAD51D into cancer risk prediction models.
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              Testicular cancer: what the radiologist needs to know.

              Evgeniy Kreydin, Glen W. Barrisford, Adam S. Feldman … (2013)
              The purpose of this article is to review current imaging techniques and evolving technologies that are being used for detection and management of testicular cancer.
              Article 0 comments Cited 22 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Autops Case Rep
                Journal ID (iso-abbrev): Autops Case Rep
                Journal ID (publisher-id): acrep
                Title: Autopsy & Case Reports
                Publisher: Hospital Universitário da Universidade de São Paulo
                ISSN (Electronic): 2236-1960
                Publication date (Electronic, pub): 14 April 2022
                Publication date (Electronic, collection): 2022
                Volume: 12
                Electronic Location Identifier: e2021374
                Affiliations
                [1 ] originalFlorida International University, Herbert Wertheim College of Medicine, Miami, FL, USA
                [2 ] originalMount Sinai Medical Center, Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Miami Beach, FL, USA
                [3 ] originalMount Sinai Medical Center, Division of Urology, Miami Beach, FL, USA
                Author notes

                Authors’ contributions: Olga Lopez and Hisham F. Bahmad worked on the case report conception and contributed to the data collection. Hisham F. Bahmad and Lydia Howard contributed to the pathological slides review and data analysis. Hisham F. Bahmad, Olga Lopez and Ruben Delgado were responsible for getting the clinical data from medical records of the hospital and writing the case report. Lydia Howard and Robert Poppiti provided explanations about the case reported. Hisham F. Bahmad worked on the histology figures and figure illustrations. Lydia Howard was responsible for the study supervision. Olga Lopez, Hisham F. Bahmad, Ruben Delgado, Billy H. Cordon, Robert Poppiti and Lydia Howard critically revised and edited the manuscript prior to approving the final draft of the manuscript.

                Conflict of interest: None

                Correspondence Hisham F. Bahmad The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center 4300 Alton Rd, Miami Beach, FL 33140, USA Phone: +1-786-961-0216 Hisham.Bahmad@ 123456msmc.com ; hfbahmad@ 123456gmail.com
                Author information
                http://orcid.org/0000-0003-1354-3832
                http://orcid.org/0000-0003-3799-2595
                http://orcid.org/0000-0001-8847-5470
                http://orcid.org/0000-0002-8836-3687
                http://orcid.org/0000-0003-2561-2583
                http://orcid.org/0000-0003-2283-5183
                Article
                Publisher ID: acrep129622 Other ID: 00703
                DOI: 10.4322/acr.2021.374
                PMC ID: 9037850
                PubMed ID: 35496736
                SO-VID: d8cf2599-ebbb-4bef-87b6-d8ffdd10d55e
                Copyright © Copyright © 2022 The Author(s).
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 31 January 2022
                Date accepted : 29 March 2022
                Page count
                Figures: 5, Tables: 0, Equations: 0, References: 45
                Categories
                Subject: Clinical Case Report

                Keywords: case reports,epididymis,cystadenoma, papillary,von hippel-lindau disease
                Data availability:
                Keywords: case reports, epididymis, cystadenoma, papillary, von hippel-lindau disease

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