Primary adenocarcinoma of the spermatic cord: a case report and review of the literature.
Immunohistochemistry
Malignant neoplasms
SMARCB1
Spermatic cord
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
09 Oct 2024
09 Oct 2024
Historique:
received:
10
05
2024
accepted:
27
09
2024
medline:
10
10
2024
pubmed:
10
10
2024
entrez:
9
10
2024
Statut:
epublish
Résumé
Primary malignant neoplasms of the spermatic cord are extremely rare, with most reported cases being sarcomas or metastatic carcinomas. However, primary adenocarcinoma of the spermatic cord has not been previously reported. A 34-year-old male with a solid mass in the right spermatic cord, was eventually diagnosed with primary adenocarcinoma. Histological examination revealed a moderately-to-poorly differentiated adenocarcinoma exhibiting glandular, cribriform, or nested growth patterns, characterized by medium to large-sized cells and focal extracellular mucus. Immunohistochemical analysis demonstrated positive staining for CK (AE1/AE3), CK8/18, CK19, MOC31 (EP-CAM), and Ber-EP4, while negative staining was observed for CK7, D2-40, WT-1, MC, PAX-8, NKX3.1, PSA, CEA, TTF-1, and NapsinA. Furthermore, a complete loss of INI-1 expression and consistent BRG1 expression were noted in all tumor cells. Next-generation sequencing revealed SMARCB1 deletion, low tumor mutation burden (TMB-L), and microsatellite stability (MSS). We reported the first case of primary adenocarcinoma of the spermatic cord with SMARCB1 (INI-1) deficiency. This case contributes to the expanding understanding of rare neoplasms and underscores the importance of further research into therapeutic strategies targeting SMARCB1-deficient tumors.
Sections du résumé
BACKGROUND
BACKGROUND
Primary malignant neoplasms of the spermatic cord are extremely rare, with most reported cases being sarcomas or metastatic carcinomas. However, primary adenocarcinoma of the spermatic cord has not been previously reported.
CASE PRESENTATION
METHODS
A 34-year-old male with a solid mass in the right spermatic cord, was eventually diagnosed with primary adenocarcinoma. Histological examination revealed a moderately-to-poorly differentiated adenocarcinoma exhibiting glandular, cribriform, or nested growth patterns, characterized by medium to large-sized cells and focal extracellular mucus. Immunohistochemical analysis demonstrated positive staining for CK (AE1/AE3), CK8/18, CK19, MOC31 (EP-CAM), and Ber-EP4, while negative staining was observed for CK7, D2-40, WT-1, MC, PAX-8, NKX3.1, PSA, CEA, TTF-1, and NapsinA. Furthermore, a complete loss of INI-1 expression and consistent BRG1 expression were noted in all tumor cells. Next-generation sequencing revealed SMARCB1 deletion, low tumor mutation burden (TMB-L), and microsatellite stability (MSS).
CONCLUSION
CONCLUSIONS
We reported the first case of primary adenocarcinoma of the spermatic cord with SMARCB1 (INI-1) deficiency. This case contributes to the expanding understanding of rare neoplasms and underscores the importance of further research into therapeutic strategies targeting SMARCB1-deficient tumors.
Identifiants
pubmed: 39385147
doi: 10.1186/s13000-024-01558-2
pii: 10.1186/s13000-024-01558-2
doi:
Substances chimiques
Biomarkers, Tumor
0
SMARCB1 Protein
0
SMARCB1 protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
136Subventions
Organisme : National Natural Science Foundation of China
ID : 82002668
Organisme : Basic and Applied Basic Research Foundation of Guangdong Province
ID : 2021A1515010579
Informations de copyright
© 2024. The Author(s).
Références
Sogani PC, Grabstald H, Whitmore WF. Jr. Spermatic cord sarcoma in adults. J Urol. 1978;120:301–5. https://doi.org/10.1016/s0022-5347(17)57146-3 .
doi: 10.1016/s0022-5347(17)57146-3
pubmed: 210297
Coleman J, Brennan MF, Alektiar K, Russo P. Adult spermatic cord sarcomas: management and results. Ann Surg Oncol. 2003;10:669–75. https://doi.org/10.1245/aso.2003.11.014 .
doi: 10.1245/aso.2003.11.014
pubmed: 12839852
Guttilla A, Crestani A, Zattoni F, Secco S, Iafrate M, Vianello F, Valotto C, Prayer-Galetti T, Zattoni F. Spermatic cord sarcoma: our experience and review of the literature. Urol Int. 2013;90:101–5. https://doi.org/10.1159/000343277 .
doi: 10.1159/000343277
pubmed: 23108485
Rodriguez D, Barrisford GW, Sanchez A, Preston MA, Kreydin EI, Olumi AF. Primary spermatic cord tumors: disease characteristics, prognostic factors, and treatment outcomes. Urol Oncol. 2014;32:e5219–25. https://doi.org/10.1016/j.urolonc.2013.08.009 .
doi: 10.1016/j.urolonc.2013.08.009
Di Franco CA, Rovereto B, Porru D, Zoccarato V, Regina C, Cebrelli T, Fiorello N, Viglio A, Galvagno L, Marchetti C, et al. Metastasis of the epididymis and spermatic cord from pancreatic adenocarcinoma: a rare entity. Description of a case and revision of literature. Arch Ital Urol Androl. 2018;90:72–3. https://doi.org/10.4081/aiua.2018.1.72 .
doi: 10.4081/aiua.2018.1.72
pubmed: 29633804
Rodriguez D, Olumi AF. Management of spermatic cord tumors: a rare urologic malignancy. Ther Adv Urol. 2012;4:325–34. https://doi.org/10.1177/1756287212447839 .
doi: 10.1177/1756287212447839
pubmed: 23205059
pmcid: 3491755
Berdjis CC, Mostofi FK. Carcinoid tumors of the testis. J Urol. 1977;118:777–82. https://doi.org/10.1016/s0022-5347(17)58191-4 .
doi: 10.1016/s0022-5347(17)58191-4
pubmed: 916100
Kim JH, Kim DS, Cho HD. MS., L. Late-onset metastatic adenocarcinoma of the spermatic cord from primary gastric cancer. World J Surg Oncol. 12, 128, https://doi.org/10.1186/1477-7819-12-128
Fu J, Luo J, Ye H, Chen Y, Xie L. Testicular and Spermatic Cord Metastases from gastric adenocarcinoma: an unusual case. Cancer Manag Res. 2021;13:1897–900. https://doi.org/10.2147/CMAR.S286909 .
doi: 10.2147/CMAR.S286909
pubmed: 33654434
pmcid: 7914050
Dagur G, Gandhi J, Kapadia K, Inam R, Smith NL, Joshi G, Khan SA. Neoplastic diseases of the spermatic cord: an overview of pathological features, evaluation, and management. Transl Androl Urol. 2017;6:101–10. https://doi.org/10.21037/tau.2017.01.04 .
doi: 10.21037/tau.2017.01.04
pubmed: 28217455
pmcid: 5313312
Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011;35:e47–63. https://doi.org/10.1097/PAS.0b013e31822b325b .
doi: 10.1097/PAS.0b013e31822b325b
pubmed: 21934399
Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T, Benesch M, Hainfellner JA, Haberler C. Austrian brain tumor, R. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian brain Tumor Registry, 1996–2006. Cancer. 2010;116:5725–32. https://doi.org/10.1002/cncr.25540 .
doi: 10.1002/cncr.25540
pubmed: 20737418
Thway K, Jones RL, Noujaim J, Fisher C. Epithelioid sarcoma: diagnostic features and Genetics. Adv Anat Pathol. 2016;23:41–9. https://doi.org/10.1097/PAP.0000000000000102 .
doi: 10.1097/PAP.0000000000000102
pubmed: 26645461
Agaimy A, Hartmann A, Antonescu CR, Chiosea SI, El-Mofty SK, Geddert H, Iro H, Lewis JS Jr., Markl B, Mills SE, et al. SMARCB1 (INI-1)-deficient Sinonasal Carcinoma: a Series of 39 cases expanding the morphologic and clinicopathologic spectrum of a recently described Entity. Am J Surg Pathol. 2017;41:458–71. https://doi.org/10.1097/PAS.0000000000000797 .
doi: 10.1097/PAS.0000000000000797
pubmed: 28291122
pmcid: 5354087
Agaimy A. The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity. Adv Anat Pathol. 2014;21:394–410. https://doi.org/10.1097/PAP.0000000000000038 .
doi: 10.1097/PAP.0000000000000038
pubmed: 25299309
Chase A, Cross NC. Aberrations of EZH2 in cancer. Clin Cancer Res. 2011;17:2613–8. https://doi.org/10.1158/1078-0432.Ccr-10-2156 .
doi: 10.1158/1078-0432.Ccr-10-2156
pubmed: 21367748
Italiano A. Targeting epigenetics in sarcomas through EZH2 inhibition. J Hematol Oncol. 2020;13. https://doi.org/10.1186/s13045-020-00868-4 .
Rothbart SB, Baylin SB. Epigenetic therapy for Epithelioid Sarcoma. Cell. 2020;181. https://doi.org/10.1016/j.cell.2020.03.042 .
Ngo C, Postel-Vinay S. Immunotherapy for SMARCB1-Deficient sarcomas: current evidence and future developments. Biomedicines. 2022;10. https://doi.org/10.3390/biomedicines10030650 .