Skip to main content

15.04.2024 | REVIEW AND PERSPECTIVES

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

verfasst von: Andrea Strakova-Peterikova, Maryna Slisarenko, Josef Skopal, Kristyna Pivovarcikova, Tomas Pitra, Mihaela Farcas, Michael Michal, Michal Michal, Kvetoslava Michalova

Erschienen in: Virchows Archiv

Einloggen, um Zugang zu erhalten

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.
Literatur
2.
Zurück zum Zitat Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89–92PubMedCrossRef Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 26:89–92PubMedCrossRef
3.
Zurück zum Zitat Bouys L, Bertherat J (2021) MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. Eur J Endocrinol 184:R99-r109PubMedCrossRef Bouys L, Bertherat J (2021) MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. Eur J Endocrinol 184:R99-r109PubMedCrossRef
4.
Zurück zum Zitat Kacerovská D, Michal M, Síma R, Grossmann P, Kazakov DV (2011) Carneyho komplex [Carney complex]. Cesk Patol 47(4):192–7. Czech Kacerovská D, Michal M, Síma R, Grossmann P, Kazakov DV (2011) Carneyho komplex [Carney complex]. Cesk Patol 47(4):192–7. Czech
5.
Zurück zum Zitat Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041–4046PubMedCrossRef Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041–4046PubMedCrossRef
6.
Zurück zum Zitat Gourgari E, Saloustros E, Stratakis CA (2012) Large-cell calcifying Sertoli cell tumors of the testes in pediatrics. Curr Opin Pediatr 24:518–522PubMedPubMedCentralCrossRef Gourgari E, Saloustros E, Stratakis CA (2012) Large-cell calcifying Sertoli cell tumors of the testes in pediatrics. Curr Opin Pediatr 24:518–522PubMedPubMedCentralCrossRef
7.
Zurück zum Zitat Anderson WJ, Gordetsky JB, Idrees MT, Al-Obaidy KI, Kao CS, Cornejo KM, Wobker SE, Cheville JC, Vargas SO, Fletcher CDM et al (2022) Large cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry. Histopathology 80:677–685PubMedCrossRef Anderson WJ, Gordetsky JB, Idrees MT, Al-Obaidy KI, Kao CS, Cornejo KM, Wobker SE, Cheville JC, Vargas SO, Fletcher CDM et al (2022) Large cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry. Histopathology 80:677–685PubMedCrossRef
8.
Zurück zum Zitat Petersson F, Bulimbasic S, Sima R, Michal M, Hora M, Malagon HD, Matoska J, Hes O (2010) Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene. Hum Pathol 41:552–559PubMedCrossRef Petersson F, Bulimbasic S, Sima R, Michal M, Hora M, Malagon HD, Matoska J, Hes O (2010) Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene. Hum Pathol 41:552–559PubMedCrossRef
9.
Zurück zum Zitat Tatsi C, Faucz FR, Blavakis E, Carneiro BA, Lyssikatos C, Belyavskaya E, Quezado M, Stratakis CA (2019) Somatic PRKAR1A Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor. J Endoc Soc 3:1375–1382CrossRef Tatsi C, Faucz FR, Blavakis E, Carneiro BA, Lyssikatos C, Belyavskaya E, Quezado M, Stratakis CA (2019) Somatic PRKAR1A Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor. J Endoc Soc 3:1375–1382CrossRef
10.
Zurück zum Zitat Spoto CPE, Gullo I, Carneiro F, Montgomery EA, Brosens LAA (2018) Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing. Semin Diagn Pathol 35:170–183PubMedCrossRef Spoto CPE, Gullo I, Carneiro F, Montgomery EA, Brosens LAA (2018) Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing. Semin Diagn Pathol 35:170–183PubMedCrossRef
11.
Zurück zum Zitat Ulbright TM, Amin MB, Young RH (2007) Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome. Am J Surg Pathol 31:827–835PubMedCrossRef Ulbright TM, Amin MB, Young RH (2007) Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome. Am J Surg Pathol 31:827–835PubMedCrossRef
12.
Zurück zum Zitat Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D et al (1999) Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 8:45–51PubMedCrossRef Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D et al (1999) Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 8:45–51PubMedCrossRef
15.
Zurück zum Zitat Berney DM, Cree I, Rao V, Moch H, Srigley JR, Tsuzuki T, Amin MB, Comperat EM, Hartmann A, Menon S et al (2022) An introduction to the WHO 5th edition 2022 classification of testicular tumours. Histopathology 81:459–466PubMedPubMedCentralCrossRef Berney DM, Cree I, Rao V, Moch H, Srigley JR, Tsuzuki T, Amin MB, Comperat EM, Hartmann A, Menon S et al (2022) An introduction to the WHO 5th edition 2022 classification of testicular tumours. Histopathology 81:459–466PubMedPubMedCentralCrossRef
16.
Zurück zum Zitat Ham S, Meachem SJ, Choong CS, Charles AK, Baynam GS, Jones TW, Samarajeewa NU, Simpson ER, Brown KA (2013) Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome. J Clin Endocrinol Metab 98:E1979-1987PubMedCrossRef Ham S, Meachem SJ, Choong CS, Charles AK, Baynam GS, Jones TW, Samarajeewa NU, Simpson ER, Brown KA (2013) Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome. J Clin Endocrinol Metab 98:E1979-1987PubMedCrossRef
17.
Zurück zum Zitat Venara M, Rey R, Bergadá I, Mendilaharzu H, Campo S, Chemes H (2001) Sertoli cell proliferations of the infantile testis: an intratubular form of Sertoli cell tumor? Am J Surg Pathol 25:1237–1244PubMedCrossRef Venara M, Rey R, Bergadá I, Mendilaharzu H, Campo S, Chemes H (2001) Sertoli cell proliferations of the infantile testis: an intratubular form of Sertoli cell tumor? Am J Surg Pathol 25:1237–1244PubMedCrossRef
18.
Zurück zum Zitat Coen P, Kulin H, Ballantine T, Zaino R, Frauenhoffer E, Boal D, Inkster S, Brodie A, Santen R (1991) An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med 324:317–322PubMedCrossRef Coen P, Kulin H, Ballantine T, Zaino R, Frauenhoffer E, Boal D, Inkster S, Brodie A, Santen R (1991) An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med 324:317–322PubMedCrossRef
19.
Zurück zum Zitat Ceccamea Alberto, Cozzi Francesco, Farragiana Tullio, Boscherini Brunetto, Pierro Agostino (1985) Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome. Tumori 71:379–385PubMedCrossRef Ceccamea Alberto, Cozzi Francesco, Farragiana Tullio, Boscherini Brunetto, Pierro Agostino (1985) Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome. Tumori 71:379–385PubMedCrossRef
20.
Zurück zum Zitat Cantú JM, Rivera H, Ocampo-Campos R, Bedolla N, Cortés-Gallegos V, González-Mendoza A, Díaz M, Hernández A (1980) Peutz-Jeghers syndrome with feminizing sertoli cell tumor. Cancer 46:223–228PubMedCrossRef Cantú JM, Rivera H, Ocampo-Campos R, Bedolla N, Cortés-Gallegos V, González-Mendoza A, Díaz M, Hernández A (1980) Peutz-Jeghers syndrome with feminizing sertoli cell tumor. Cancer 46:223–228PubMedCrossRef
21.
Zurück zum Zitat Dubois RS, Hoffman WH, Krishnan TH, Rising JA, Tolia VK, Sy DA, Chang CH (1982) Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. J Pediatr 101:568–571PubMedCrossRef Dubois RS, Hoffman WH, Krishnan TH, Rising JA, Tolia VK, Sy DA, Chang CH (1982) Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. J Pediatr 101:568–571PubMedCrossRef
22.
Zurück zum Zitat Ros P, Nistal M, Alonso M, Calvo de Mora J, Yturriaga R, Barrio R (1999) Sertoli cell tumour in a boy with Peutz-Jeghers syndrome. Histopathology 34:84–86PubMedCrossRef Ros P, Nistal M, Alonso M, Calvo de Mora J, Yturriaga R, Barrio R (1999) Sertoli cell tumour in a boy with Peutz-Jeghers syndrome. Histopathology 34:84–86PubMedCrossRef
23.
Zurück zum Zitat Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP et al (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79:49–59PubMedCrossRef Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP et al (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79:49–59PubMedCrossRef
24.
Zurück zum Zitat Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E et al (2014) Germline FH mutations presenting with pheochromocytoma. J Clin Endocrinol Metab 99:E2046-2050PubMedCrossRef Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E et al (2014) Germline FH mutations presenting with pheochromocytoma. J Clin Endocrinol Metab 99:E2046-2050PubMedCrossRef
25.
Zurück zum Zitat Muller M, Ferlicot S, Guillaud-Bataille M, Le Teuff G, Genestie C, Deveaux S, Slama A, Poulalhon N, Escudier B, Albiges L et al (2017) Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. Clin Genet 92:606–615PubMedCrossRef Muller M, Ferlicot S, Guillaud-Bataille M, Le Teuff G, Genestie C, Deveaux S, Slama A, Poulalhon N, Escudier B, Albiges L et al (2017) Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. Clin Genet 92:606–615PubMedCrossRef
26.
Zurück zum Zitat Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O et al (2014) Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet 23:2440–2446PubMedCrossRef Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O et al (2014) Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet 23:2440–2446PubMedCrossRef
27.
Zurück zum Zitat Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I et al (2006) Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 91:3071–3075PubMedCrossRef Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I et al (2006) Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 91:3071–3075PubMedCrossRef
28.
Zurück zum Zitat Rizzo NM, Sholl LM, Idrees MT, Cheville JC, Gupta S, Cornejo KM, Miyamoto H, Hirsch MS, Collins K, and Acosta AM (2021) Comparative molecular analysis of testicular Leydig cell tumors demonstrates distinct subsets of neoplasms with aggressive histopathologic features. Modern pathol: official J United States and Canad Acad Pathol Inc 34 1935–1946CrossRef Rizzo NM, Sholl LM, Idrees MT, Cheville JC, Gupta S, Cornejo KM, Miyamoto H, Hirsch MS, Collins K, and Acosta AM (2021) Comparative molecular analysis of testicular Leydig cell tumors demonstrates distinct subsets of neoplasms with aggressive histopathologic features. Modern pathol: official J United States and Canad Acad Pathol Inc 34 1935–1946CrossRef
29.
Zurück zum Zitat Ju JY, Mills AM, Mahadevan MS, Fan J, Culp SH, Thomas MH, Cathro HP (2018) Universal Lynch Syndrome Screening Should be Performed in All Upper Tract Urothelial Carcinomas. Am J Surg Pathol 42:1549–1555PubMedCrossRef Ju JY, Mills AM, Mahadevan MS, Fan J, Culp SH, Thomas MH, Cathro HP (2018) Universal Lynch Syndrome Screening Should be Performed in All Upper Tract Urothelial Carcinomas. Am J Surg Pathol 42:1549–1555PubMedCrossRef
30.
Zurück zum Zitat Pivovarcikova K, Pitra T, Alaghehbandan R, Buchova K, Steiner P, Hajkova V, Ptakova N, Subrt I, Skopal J, Svajdler P et al (2023) Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines. Virchows Archiv : intl J Pathol 483:517–526CrossRef Pivovarcikova K, Pitra T, Alaghehbandan R, Buchova K, Steiner P, Hajkova V, Ptakova N, Subrt I, Skopal J, Svajdler P et al (2023) Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines. Virchows Archiv : intl J Pathol 483:517–526CrossRef
31.
Zurück zum Zitat Lobo J, Pinto C, Pinheiro M, Lobo F, Sousa N, Lopes P, Looijenga LH, Jerónimo C, Teixeira MR, Henrique R (2020) Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss. Histopathology 76:486–489PubMedCrossRef Lobo J, Pinto C, Pinheiro M, Lobo F, Sousa N, Lopes P, Looijenga LH, Jerónimo C, Teixeira MR, Henrique R (2020) Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss. Histopathology 76:486–489PubMedCrossRef
32.
Zurück zum Zitat Dum D, Steurer S, Simon R, Zimmermann PV, Burandt E, Clauditz TS, Fisch M, Rink M, Dahlem R, Höppner W et al (2021) Mismatch repair deficiency occurs very rarely in seminomas. Transl Androl Urol 10:1048–1055PubMedPubMedCentralCrossRef Dum D, Steurer S, Simon R, Zimmermann PV, Burandt E, Clauditz TS, Fisch M, Rink M, Dahlem R, Höppner W et al (2021) Mismatch repair deficiency occurs very rarely in seminomas. Transl Androl Urol 10:1048–1055PubMedPubMedCentralCrossRef
33.
Zurück zum Zitat Waller A, Findeis S, Lee MJ (2016) Familial Adenomatous Polyposis. J Pediatr Gen 5:78–83 Waller A, Findeis S, Lee MJ (2016) Familial Adenomatous Polyposis. J Pediatr Gen 5:78–83
34.
Zurück zum Zitat Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJ, Links TP, van Beek AP (2008) Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15:2439–2450PubMedPubMedCentralCrossRef Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJ, Links TP, van Beek AP (2008) Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15:2439–2450PubMedPubMedCentralCrossRef
35.
Zurück zum Zitat Perrone F, Bertolotti A, Montemurro G, Paolini B, Pierotti MA, Colecchia M (2014) Frequent mutation and nuclear localization of β-catenin in sertoli cell tumors of the testis. Am J Surg Pathol 38:66–71PubMedCrossRef Perrone F, Bertolotti A, Montemurro G, Paolini B, Pierotti MA, Colecchia M (2014) Frequent mutation and nuclear localization of β-catenin in sertoli cell tumors of the testis. Am J Surg Pathol 38:66–71PubMedCrossRef
36.
37.
Zurück zum Zitat Rizzo NM, Sholl LM, Kao CS, Cornejo KM, Sangoi AR, Hirsch MS, Collins K, Gordetsky JB, Reyes Curcio FA, Fletcher CDM, et al. (2023). Molecular Correlates of Aggressive Behavior and Biological Progression in Testicular Sertoli Cell Tumors. Modern pathology : J United States and Canad Acad Pathol Inc 36, 100152.CrossRef Rizzo NM, Sholl LM, Kao CS, Cornejo KM, Sangoi AR, Hirsch MS, Collins K, Gordetsky JB, Reyes Curcio FA, Fletcher CDM, et al. (2023). Molecular Correlates of Aggressive Behavior and Biological Progression in Testicular Sertoli Cell Tumors. Modern pathology : J United States and Canad Acad Pathol Inc 36, 100152.CrossRef
38.
Zurück zum Zitat Siegmund SE, Sholl LM, Tsai HK, Yang Y, Vasudevaraja V, Tran I, Snuderl M, Fletcher CDM, Cornejo KM, Idrees MT, et al (2022) Clinicopathologic and molecular spectrum of testicular sex cord stromal tumors not amenable to specific histopathologic subclassification. Modern pathology : official J US Canad Acad Pathol Inc 35 1944–1954. Siegmund SE, Sholl LM, Tsai HK, Yang Y, Vasudevaraja V, Tran I, Snuderl M, Fletcher CDM, Cornejo KM, Idrees MT, et al (2022) Clinicopathologic and molecular spectrum of testicular sex cord stromal tumors not amenable to specific histopathologic subclassification. Modern pathology : official J US Canad Acad Pathol Inc 35 1944–1954.
39.
Zurück zum Zitat Necchi A, Bratslavsky G, Shapiro O, Elvin JA, Vergilio JA, Killian JK, Ngo N, Ramkissoon S, Severson E, Hemmerich AC et al (2019) Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors. Eur Urol Focus 5:748–755PubMedCrossRef Necchi A, Bratslavsky G, Shapiro O, Elvin JA, Vergilio JA, Killian JK, Ngo N, Ramkissoon S, Severson E, Hemmerich AC et al (2019) Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors. Eur Urol Focus 5:748–755PubMedCrossRef
40.
Zurück zum Zitat Siegmund S, Ricci C, Kao CS, Sangoi AR, Mohanty S, Fletcher CDM, Colecchia M, Acosta AM (2023) Germline APC Alterations May Predispose to Testicular Sex Cord-Stromal Tumors. Am J Surg Pathol 47:1432–1437PubMedCrossRef Siegmund S, Ricci C, Kao CS, Sangoi AR, Mohanty S, Fletcher CDM, Colecchia M, Acosta AM (2023) Germline APC Alterations May Predispose to Testicular Sex Cord-Stromal Tumors. Am J Surg Pathol 47:1432–1437PubMedCrossRef
41.
Zurück zum Zitat Xiao GQ, Granato RC, Unger PD (2012) Bilateral Sertoli cell tumors of the testis-a likely new extracolonic manifestation of familial adenomatous polyposis. Virchows Archiv : an intl J Pathol 461:713–715CrossRef Xiao GQ, Granato RC, Unger PD (2012) Bilateral Sertoli cell tumors of the testis-a likely new extracolonic manifestation of familial adenomatous polyposis. Virchows Archiv : an intl J Pathol 461:713–715CrossRef
42.
Zurück zum Zitat Heffner DK (1989) Low-grade adenocarcinoma of probable endolymphatic sac origin A clinicopathologic study of 20 cases. Cancer 64:2292–2302PubMedCrossRef Heffner DK (1989) Low-grade adenocarcinoma of probable endolymphatic sac origin A clinicopathologic study of 20 cases. Cancer 64:2292–2302PubMedCrossRef
43.
Zurück zum Zitat Cox R, Vang R, Epstein JI (2014) Papillary cystadenoma of the epididymis and broad ligament: morphologic and immunohistochemical overlap with clear cell papillary renal cell carcinoma. Am J Surg Pathol 38:713–718PubMedCrossRef Cox R, Vang R, Epstein JI (2014) Papillary cystadenoma of the epididymis and broad ligament: morphologic and immunohistochemical overlap with clear cell papillary renal cell carcinoma. Am J Surg Pathol 38:713–718PubMedCrossRef
44.
Zurück zum Zitat Yang L, Xu WS, Melamed J, Zhou M, Deng FM (2015) Solid variant of papillary cystadenoma of the epididymis. Histopathology 67:138–141PubMedCrossRef Yang L, Xu WS, Melamed J, Zhou M, Deng FM (2015) Solid variant of papillary cystadenoma of the epididymis. Histopathology 67:138–141PubMedCrossRef
45.
Zurück zum Zitat Soria Gondek A, Julià Masip V, Jou Muñoz C, Salvador Hernández H, Rovira Zurriaga C, Tarrado Castellarnau X (2018) Adolescent Hydrocele Carrying a Surprise: A Case of Papillary Cystadenoma of the Epididymis. Urology 112:172–175PubMedCrossRef Soria Gondek A, Julià Masip V, Jou Muñoz C, Salvador Hernández H, Rovira Zurriaga C, Tarrado Castellarnau X (2018) Adolescent Hydrocele Carrying a Surprise: A Case of Papillary Cystadenoma of the Epididymis. Urology 112:172–175PubMedCrossRef
46.
Zurück zum Zitat Tsuda H, Fukushima S, Takahashi M, Hikosaka Y, Hayashi K (1976) Familial bilateral papillary cystadenoma of the epididymis: report of three cases in siblings. Cancer 37:1831–1839PubMedCrossRef Tsuda H, Fukushima S, Takahashi M, Hikosaka Y, Hayashi K (1976) Familial bilateral papillary cystadenoma of the epididymis: report of three cases in siblings. Cancer 37:1831–1839PubMedCrossRef
47.
Zurück zum Zitat de Souza Andrade J, Bambirra EA, Bicalho OJ, de Souza AF (1985) Bilateral papillary cystadenoma of the epididymis as a component of von Hippel-Lindau’s syndrome: report of a case presenting as infertility. J Urol 133:288–289PubMedCrossRef de Souza Andrade J, Bambirra EA, Bicalho OJ, de Souza AF (1985) Bilateral papillary cystadenoma of the epididymis as a component of von Hippel-Lindau’s syndrome: report of a case presenting as infertility. J Urol 133:288–289PubMedCrossRef
48.
Zurück zum Zitat Gläsker S, Tran MG, Shively SB, Ikejiri B, Lonser RR, Maxwell PH, Zhuang Z, Oldfield EH, Vortmeyer AO (2006) Epididymal cystadenomas and epithelial tumourlets: effects of VHL deficiency on the human epididymis. J Pathol 210:32–41PubMedCrossRef Gläsker S, Tran MG, Shively SB, Ikejiri B, Lonser RR, Maxwell PH, Zhuang Z, Oldfield EH, Vortmeyer AO (2006) Epididymal cystadenomas and epithelial tumourlets: effects of VHL deficiency on the human epididymis. J Pathol 210:32–41PubMedCrossRef
49.
Zurück zum Zitat Mehta GU, Shively SB, Duong H, Tran MG, Moncrief TJ, Smith JH, Li J, Edwards NA, Lonser RR, Zhuang Z et al (2008) Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease. Neoplasia (New York, NY) 10:1146–1153CrossRef Mehta GU, Shively SB, Duong H, Tran MG, Moncrief TJ, Smith JH, Li J, Edwards NA, Lonser RR, Zhuang Z et al (2008) Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease. Neoplasia (New York, NY) 10:1146–1153CrossRef
50.
Zurück zum Zitat Mandriota SJ, Turner KJ, Davies DR, Murray PG, Morgan NV, Sowter HM, Wykoff CC, Maher ER, Harris AL, Ratcliffe PJ et al (2002) HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. Cancer Cell 1:459–468PubMedCrossRef Mandriota SJ, Turner KJ, Davies DR, Murray PG, Morgan NV, Sowter HM, Wykoff CC, Maher ER, Harris AL, Ratcliffe PJ et al (2002) HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. Cancer Cell 1:459–468PubMedCrossRef
51.
Zurück zum Zitat Gläsker S, Lonser RR, Tran MG, Ikejiri B, Butman JA, Zeng W, Maxwell PH, Zhuang Z, Oldfield EH, Vortmeyer AO (2005) Effects of VHL deficiency on endolymphatic duct and sac. Can Res 65:10847–10853CrossRef Gläsker S, Lonser RR, Tran MG, Ikejiri B, Butman JA, Zeng W, Maxwell PH, Zhuang Z, Oldfield EH, Vortmeyer AO (2005) Effects of VHL deficiency on endolymphatic duct and sac. Can Res 65:10847–10853CrossRef
52.
Zurück zum Zitat Vortmeyer AO, Tran MG, Zeng W, Gläsker S, Riley C, Tsokos M, Ikejiri B, Merrill MJ, Raffeld M, Zhuang Z et al (2006) Evolution of VHL tumourigenesis in nerve root tissue. J Pathol 210:374–382PubMedCrossRef Vortmeyer AO, Tran MG, Zeng W, Gläsker S, Riley C, Tsokos M, Ikejiri B, Merrill MJ, Raffeld M, Zhuang Z et al (2006) Evolution of VHL tumourigenesis in nerve root tissue. J Pathol 210:374–382PubMedCrossRef
53.
Zurück zum Zitat Michal M, Vanecek T, Sima R, Mukensnabl P, Boudova L, Brouckova M, Koudepa K (2004) Primary capillary hemangioblastoma of peripheral soft tissues. Am J Surg Pathol 28:962–966PubMedCrossRef Michal M, Vanecek T, Sima R, Mukensnabl P, Boudova L, Brouckova M, Koudepa K (2004) Primary capillary hemangioblastoma of peripheral soft tissues. Am J Surg Pathol 28:962–966PubMedCrossRef
54.
Zurück zum Zitat Jonathan I Epstein, CMG Ming Zhou, and Antonio L. Cubilla. 2020 AFIP Atlases of Tumor and Non-Tumor Pathology: Tumors of the Prostate Gland, Seminal Vesicles, Penis, and Scrotum American Registry of Pathology Arlington, Virginia Jonathan I Epstein, CMG Ming Zhou, and Antonio L. Cubilla. 2020 AFIP Atlases of Tumor and Non-Tumor Pathology: Tumors of the Prostate Gland, Seminal Vesicles, Penis, and Scrotum American Registry of Pathology Arlington, Virginia
55.
Zurück zum Zitat Datta MW, Ulbright TM, Young RH (2001) Renal cell carcinoma metastatic to the testis and its adnexa: a report of five cases including three that accounted for the initial clinical presentation. Int J Surg Pathol 9:49–56PubMedCrossRef Datta MW, Ulbright TM, Young RH (2001) Renal cell carcinoma metastatic to the testis and its adnexa: a report of five cases including three that accounted for the initial clinical presentation. Int J Surg Pathol 9:49–56PubMedCrossRef
56.
Zurück zum Zitat Aydin H, Young RH, Ronnett BM, Epstein JI (2005) Clear cell papillary cystadenoma of the epididymis and mesosalpinx: immunohistochemical differentiation from metastatic clear cell renal cell carcinoma. Am J Surg Pathol 29:520–523PubMedCrossRef Aydin H, Young RH, Ronnett BM, Epstein JI (2005) Clear cell papillary cystadenoma of the epididymis and mesosalpinx: immunohistochemical differentiation from metastatic clear cell renal cell carcinoma. Am J Surg Pathol 29:520–523PubMedCrossRef
57.
Zurück zum Zitat Gilcrease MZ, Schmidt L, Zbar B, Truong L, Rutledge M, Wheeler TM (1995) Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Hum Pathol 26:1341–1346PubMedCrossRef Gilcrease MZ, Schmidt L, Zbar B, Truong L, Rutledge M, Wheeler TM (1995) Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Hum Pathol 26:1341–1346PubMedCrossRef
58.
Zurück zum Zitat Torikata C (1994) Papillary cystadenoma of the epididymis. An ultrastructural and immunohistochemical study. J Submicrosc Cytol Pathol 26:387–393PubMed Torikata C (1994) Papillary cystadenoma of the epididymis. An ultrastructural and immunohistochemical study. J Submicrosc Cytol Pathol 26:387–393PubMed
59.
Zurück zum Zitat Geenen RW, Bevers RF, Gielis C, Boon TA (1997) Papillary cystadenoma located in the spermatic cord. J Urol 158(2):546 Geenen RW, Bevers RF, Gielis C, Boon TA (1997) Papillary cystadenoma located in the spermatic cord. J Urol 158(2):546
60.
Zurück zum Zitat Kragel PJ, Pestaner J, Travis WD, Linehan WM, Filling-Katz MR (1990) Papillary cystadenoma of the epididymis. A report of three cases with lectin histochemistry. Arch Pathol Lab Med 114:672–675PubMed Kragel PJ, Pestaner J, Travis WD, Linehan WM, Filling-Katz MR (1990) Papillary cystadenoma of the epididymis. A report of three cases with lectin histochemistry. Arch Pathol Lab Med 114:672–675PubMed
61.
Zurück zum Zitat Mehta GU, Shively SB, Gläsker S, Bechert CJ, Zhuang Z, Raffeld M, Lonser RR, Oldfield EH, Vortmeyer AO (2007) von Hippel-Lindau disease: epididymal cystadenoma targeted by metastatic events. Urology 69:1209.e1209-1212CrossRef Mehta GU, Shively SB, Gläsker S, Bechert CJ, Zhuang Z, Raffeld M, Lonser RR, Oldfield EH, Vortmeyer AO (2007) von Hippel-Lindau disease: epididymal cystadenoma targeted by metastatic events. Urology 69:1209.e1209-1212CrossRef
62.
Zurück zum Zitat Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14:662–672PubMedCrossRef Foulkes WD, Priest JR, Duchaine TF (2014) DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 14:662–672PubMedCrossRef
63.
Zurück zum Zitat González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, and Dehner LP (2022) DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Modern pathology : official J US Canad Acad Pathol Inc 35, 4–22. González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, and Dehner LP (2022) DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Modern pathology : official J US Canad Acad Pathol Inc 35, 4–22.
64.
Zurück zum Zitat Apellaniz-Ruiz M, Cullinan N, Grant R, Marrano P, Priest JR, Thorner PS, Goudie C, Foulkes WD (2020) DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma. J Pathol Clin Res 6:185–194PubMedPubMedCentralCrossRef Apellaniz-Ruiz M, Cullinan N, Grant R, Marrano P, Priest JR, Thorner PS, Goudie C, Foulkes WD (2020) DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma. J Pathol Clin Res 6:185–194PubMedPubMedCentralCrossRef
65.
Zurück zum Zitat Bean GR, Anderson J, Sangoi AR, Krings G, and Garg K (2019) DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation. Modern pathology : official J US Canad Acad Pathol Inc 32, 280–289. Bean GR, Anderson J, Sangoi AR, Krings G, and Garg K (2019) DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation. Modern pathology : official J US Canad Acad Pathol Inc 32, 280–289.
66.
Zurück zum Zitat de Kock L, Yoon JY, Apellaniz-Ruiz M, Pelletier D, McCluggage WG, Stewart CJR, Dickson BC, Rouzbahman M, Clarke BA, and Foulkes WD (2020). Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Modern pathology : official J U S and Canad Acad Pathol Inc 33, 1207–1219. de Kock L, Yoon JY, Apellaniz-Ruiz M, Pelletier D, McCluggage WG, Stewart CJR, Dickson BC, Rouzbahman M, Clarke BA, and Foulkes WD (2020). Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Modern pathology : official J U S and Canad Acad Pathol Inc 33, 1207–1219.
Metadaten
Titel
Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review
verfasst von
Andrea Strakova-Peterikova
Maryna Slisarenko
Josef Skopal
Kristyna Pivovarcikova
Tomas Pitra
Mihaela Farcas
Michael Michal
Michal Michal
Kvetoslava Michalova
Publikationsdatum
15.04.2024
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-024-03803-x

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Open Access Biomarker Leitthema

Um auch an kleinen Gewebeproben zuverlässige und reproduzierbare Ergebnisse zu gewährleisten ist eine strenge Qualitätskontrolle in jedem Schritt des Arbeitsablaufs erforderlich. Eine nicht ordnungsgemäße Prüfung oder Behandlung des …

Vergleichende Pathologie in der onkologischen Forschung

Pathologie Leitthema

Die vergleichende experimentelle Pathologie („comparative experimental pathology“) ist ein Fachbereich an der Schnittstelle von Human- und Veterinärmedizin. Sie widmet sich der vergleichenden Erforschung von Gemeinsamkeiten und Unterschieden von …

Gastrointestinale Stromatumoren

Open Access GIST CME-Artikel

Gastrointestinale Stromatumoren (GIST) stellen seit über 20 Jahren ein Paradigma für die zielgerichtete Therapie mit Tyrosinkinaseinhibitoren dar. Eine elementare Voraussetzung für eine mögliche neoadjuvante oder adjuvante Behandlung bei …

Personalisierte Medizin in der Onkologie

Aufgrund des erheblichen technologischen Fortschritts in der molekularen und genetischen Diagnostik sowie zunehmender Erkenntnisse über die molekulare Pathogenese von Krankheiten hat in den letzten zwei Jahrzehnten ein grundlegender …