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Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review

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Abstract

A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large cell calcifying Sertoli cell tumor, Peutz-Jeghers syndrome and intratubular large cell hyalinizing Sertoli cell neoplasia, and VHL syndrome and clear cell papillary cystadenoma of the epididymis.

However, recent studies proposed potential novel links between some testicular and paratesticular neoplasms with certain tumor syndromes. While more studies are still needed to solidify these associations, recent research suggests that a subset of Leydig cell tumors may arise in patients with hereditary leiomyomatosis and renal cell carcinoma syndrome or that some seminomas may occur in Lynch syndrome patients. Additionally, an association between testicular sex cord stromal tumors and paratesticular sarcomas with Familial adenomatous polyposis syndrome and DICER1 syndrome, respectively, has been proposed as well. This review provides a comprehensive overview of the intricate relationship between familial syndromes and associated testicular and paratesticular tumors, shedding light on their clinicopathological and molecular characteristics.

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Funding

This work was supported by the Cooperatio Program, research area SURG, and by Institutional Research Fund FN 00669806.

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Authors and Affiliations

  1. Department of Pathology, Faculty of Medicine in Plzeň, Charles University, Czech Republic, Bioptical Laboratory, Ltd, Plzeň, Czech Republic

    Andrea Strakova-Peterikova, Maryna Slisarenko, Josef Skopal, Kristyna Pivovarcikova, Mihaela Farcas, Michael Michal, Michal Michal & Kvetoslava Michalova

  2. Medical Laboratory CSD, Ltd, Kiev, Ukraine

    Maryna Slisarenko

  3. Department of Urology, Faculty of Medicine in Plzeň, Charles University, Plzeň, Czech Republic

    Tomas Pitra

  4. Onco Team Diagnostic, Bucharest, Romania

    Mihaela Farcas

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  1. Andrea Strakova-Peterikova
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Contributions

Andrea Strakova-Peterikova – wrote the manuscript draft, did review of the literature and figures. Maryna Slisarenko – did review of the literature. Josef Skopal—did review of the literature. Kristyna Pivovarcikova – edited the manuscript. Tomas Pitra – edited clinical information. Mihaela Farcas – wrote parts of the manucsript. Michael Michal – did final editing of the manuscript. Michal Michal – contributed the cases included in the figures. Kvetoslava Michalova – did study design, edited the manuscript.

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Strakova-Peterikova, A., Slisarenko, M., Skopal, J. et al. Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review. Virchows Arch (2024). https://doi.org/10.1007/s00428-024-03803-x

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