Authors : Merouche Soumaya; Benbrahim Wassila; Hellal Dounia

Volume/Issue : Volume 10 - 2025, Issue 12 - December

Google Scholar : https://tinyurl.com/73dnzbe2

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DOI : https://doi.org/10.38124/ijisrt/25dec679

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Abstract : Background: Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive soft tissue sarcoma, typically affecting young males and characterized by the EWSR1–WT1 fusion gene. Its diagnosis is challenging due to non-specific clinical features and overlapping histological patterns, making immunohistochemistry and molecular testing essential.  Case Presentation: We report the case of a young patient presenting with an abdominal mass. Histopathological analysis revealed a small round cell tumor with desmoplastic stroma. Immunohistochemistry was consistent with DSRCT, showing co-expression of epithelial, mesenchymal, and neural markers. Molecular confirmation of the EWSR1–WT1 fusion established the diagnosis. The patient underwent multimodal treatment including high-dose chemotherapy and cytoreductive surgery.  Discussion: This case illustrates the critical role of immunohistochemistry in diagnosing DSRCT and the importance of an aggressive multimodal approach combining chemotherapy, surgery, and, in selected cases, locoregional strategies such as HIPEC. Nevertheless, relapses remain frequent and prognosis is dismal, highlighting the urgent need for novel therapeutic strategies, including targeted agents and immunotherapy.  Conclusion: DSRCT is a rare but distinct entity requiring comprehensive pathological evaluation and aggressive multimodal management. Early recognition is crucial, although outcomes remain poor despite intensive therapy.

Keywords : Desmoplastic Small Round Cell Tumor; EWSR1–WT1 Fusion; Immunohisto Chemistry; HIPEC; Targeted Therapy.

References :

1. Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG, Rosai J: Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. Am J Surg Pathol 1991, 15:499-513.
2. de Alava E, Marcilla D. Birth and evolution of the desmoplastic small round-cell tumor. Semin Diagn Pathol. 2016;33(5):254–261. doi:10.1053/j.semdp.2016.05.003
3. Puri N, Carpintieri S, Grittani A, et al. : Desmoplastic Small Round Cell Tumor in a Young Adult: A Case Report Highlighting Diagnostic Challenges and Treatment Approaches. Cureus 2024; 16(9): e69873. DOI 10.7759/cureus.69873
4. Gerald W. L., Rosai J., Ladanyi M. Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. Proceedings of the National Academy of Sciences of the United States of America. 1995;92(4):1028–1032. doi: 10.1073/pnas.92.4.1028.
5. Lettieri CK, Garcia-Filion P, Hingorani P. Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database. J Cancer Epidemiol. 2014;2014:680126. doi: 10.1155/2014/680126. Epub 2014 Nov 5. PMID: 25431592; PMCID: PMC4238280.
6. Honoré C, Delhorme JB, Nassif E, et al.: Can we cure patients with abdominal desmoplastic small round cell tumor? Results of a retrospective multicentric study on 100 patients. Surg Oncol. 2019, 29:107-12. 10.1016/j.suronc.2019.04.002
7. https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue tumors/desmoplastic-small-round-cell-tumors
8. Dufresne A, Cassier P, Couraud L, Marec-Bérard P, Meeus P, Alberti L, Blay JY. Desmoplastic small round cell tumor: current management and recent findings. Sarcoma. 2012;2012:714986. doi: 10.1155/2012/714986. Epub 2012 Mar 29. PMID: 22550424; PMCID: PMC3329898.
9. Mello CA, Campos FAB, Santos TG, Silva MLG, Torrezan GT, Costa FD, Formiga MN, Nicolau U, Nascimento AG, Silva C, Curado MP, Nakagawa SA, Lopes A, Aguiar S Jr. Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy. Cancers (Basel). 2021 Jan 28;13(3):498. doi: 10.3390/cancers13030498. PMID: 33525546; PMCID: PMC7865637
10. Parker LP, Duong JL, Wharton JT, Malpica A, Silva EG, Deavers MT. Desmoplastic small round cell tumor: report of a case presenting as a primary ovarian neoplasm. Eur J Gynaecol Oncol. 2002;23:199–202.
11. Adsay V, Cheng J, Athanasian E, Gerald W, Rosai J. Primary desmoplastic small cell tumor of soft tissues and bone of the hand. Am J Surg Pathol. 1999;23:1408–13. doi: 10.1097/00000478-199911000-00012.
12. Saltsman, James A 3rd et al. “A novel image-based system for risk stratification in patients with desmoplastic small round cell tumor.” Journal of pediatric surgery vol. 55,3 (2020): 376-380. doi:10.1016/j.jpedsurg.2018.02.068.
13. Chen G, Zhang Q, Xia D. Abdominopelvic desmoplastic small round cell tumor with metastasis: A case report and literature review. Medicine (Baltimore). 2024 Apr 5;103(14):e37664. doi: 10.1097/MD.0000000000037664. PMID: 38579065; PMCID: PMC10994471.
14. Granja NM, Begnami MD, Bortolan J, Filho AL, Schmitt FC. Desmoplastic small round cell tumour: Cytological and immunocytochemical features. Cytojournal. 2005 Mar 18;2(1):6. doi: 10.1186/1742-6413-2-6. PMID: 15777480; PMCID: PMC555739.)
15. Taei, Tareq Hamed Al et al. “Intra-abdominal desmoplastic small blue round cell tumor: A case report.” Radiology case reports vol. 17,12 4502-4505. 26 Sep. 2022, doi:10.1016/j.radcr.2022.09.022
16. Aguilera, Dolly et al. “Outpatient and home chemotherapy with novel local control strategies in desmoplastic small round cell tumor.” Sarcoma vol. 2008 (2008): 261589. doi:10.1155/2008/261589
17. Li, Runze et al. “Desmoplastic small round cell tumor of the abdomen: A case report.” Medicine vol. 102,45 (2023): e35965. doi:10.1097/MD.0000000000035965
18. Wang, LL., Ji, ZH., Gao, Y. et al. Clinicopathological features of desmoplastic small round cell tumors: clinical series and literature review. World J Surg Onc 19, 193 (2021). https://doi.org/10.1186/s12957-021-02310-6
19. Tsoukalas, N et al. “Desmoplastic small round-cell tumour of the peritoneal cavity: case report and literature review.” Annals of the Royal College of Surgeons of England vol. 102,4 (2020): e77-e81. doi:10.1308/rcsann.2019.0180
20. Jin, Dacheng et al. “Mediastinal desmoplastic small round cell tumor.” Medicine vol. 99,44 (2020): e22921. doi:10.1097/MD.0000000000022921
21. Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP, et al. Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants. J Clin Oncol. (1998) 16:3028–36.
22. Bulbul, Ajaz et al. “Desmoplastic Small Round Blue Cell Tumor: A Review of Treatment and Potential Therapeutic Genomic Alterations.” Sarcoma vol. 2017 (2017): 1278268. doi:10.1155/2017/1278268
23. Hayes-Jordan A., Anderson P. M. The diagnosis and management of desmoplastic small round cell tumor: a review. Current Opinion in Oncology. 2011;23(4):385–389. doi: 10.1097/CCO.0b013e3283477aab.
24. Lal D. R., Su W. T., Wolden S. L., Loh K. C., Modak S., La Quaglia M. P. Results of multimodal treatment for desmoplastic small round cell tumors. Journal of Pediatric Surgery. 2005;40(1):251–255. doi: 10.1016/j.jpedsurg.2004.09.046
25. Ali RH, Ali SM, Ali RM, Tahir SH, Mohammed SN, Gharib DT, et al. Desmoplastic Small Round Cell Tumor: A Case Report. Barw Medical Journal. 2024;2(1):53-57. https://doi.org/10.58742/etbs9n84
26. Reijers SJ, Siew CC, Kok NF, Honoré C, van Houdt WJ. Intra-Abdominal Desmoplastic Small Round Cell Tumor (DSRCT) and the Role of Hyperthermic Intraperitoneal Chemotherapy (HIPEC): A Review. Current Oncology. 2023;30(4):3951-63. doi:10.3390/curroncol30040299
27. Hayes-Jordan A., Coakley B.A., Green H.L., Xiao L., Fournier K.F., Herzog C.E., Ludwig J.A., McAleer M.F., Anderson P.M., Huh W.W. Desmoplastic Small Round Cell Tumor Treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy: Results of a Phase 2 Trial. Ann. Surg. Oncol. 2018;25:872–877. doi: 10.1245/s10434-018-6333-9.
28. Giani C, Radaelli S, Miceli R, et al. Long-term survivors with desmoplastic small round cell tumor (DSRCT): Results from a retrospective single-institution case series analysis. Cancer Med. 2023; 12: 10694-10703. doi:10.1002/cam4.5829
29. Goodman, Karyn A et al. “Whole abdominopelvic radiotherapy for desmoplastic small round-cell tumor.” International journal of radiation oncology, biology, physics vol. 54,1 (2002): 170-6. doi:10.1016/s0360-3016(02)02871-7
30. Pinnix CC, et al. Whole abdominopelvic intensity-modulated radiation therapy for desmoplastic small round cell tumor after surgery. International Journal of Radiation Oncology, Biology, Physics. 2011 doi: 10.1016/j.ijrobp.2011.06.1985.
31. Frezza AM, Benson C, Judson IR, Litiere S, Marreaud S, Sleijfer S, et al. Pazopanib in advanced desmoplastic small round cell tumours: a multi-institutional experience. Clin Sarcoma Res. (2014) 4:7. 10.1186/2045-3329-4-7
32. Menegaz BA, Cuglievan B, Benson J, Camacho P, Lamhamedi-Cherradi SE, Leung CH, et al. Clinical activity of pazopanib in patients with advanced desmoplastic small round cell tumor. Oncologist. (2018) 23:360–6. 10.1634/theoncologist.2017-0408
33. Betrian S, Bergeron C, Blay JY, Bompas E, Cassier PA, Chevallier L, et al. Antiangiogenic effects in patients with progressive desmoplastic small round cell tumor: data from the French national registry dedicated to the use of off-labeled targeted therapy in sarcoma (OUTC's). Clin Sarcoma Res. (2017) 7:10. 10.1186/s13569-017-0076-4
34. Italiano A, Kind M, Cioffi A, Maki RG, Bui B. Clinical activity of sunitinib in patients with advanced desmoplastic round cell tumor: a case series. Target Oncol. (2013). 8:211–3. 10.1007/s11523-012-0251-8
35. Bond M, Bernstein ML, Pappo A, Schultz KR, Krailo M, Blaney SM, et al. A phase II study of imatinib mesylate in children with refractory or relapsed solid tumors: a children's oncology group study. Pediatr Blood Cancer. (2008) 50:254–8. 10.1002/pbc.21132