Intra-abdominal multifocal desmoplastic small round cell tumor: a case report of a rare neoplasm
DOI:
https://doi.org/10.18203/2349-2902.isj20252305Keywords:
CRS, Cytoreductive surgery, DSRCT, Desmoplastic small round cell tumor, HIPEC, Hyperthermic intraperitoneal chemotherapyAbstract
Desmoplastic small round cell tumour (DSRCT) is a rare, highly aggressive malignancy predominantly affecting adolescents and young adults. We report a case of multifocal DSRCT in a 31-years-old male who presented with complaints of abdominal pain, early satiety, weight loss for two months. Whole body 18FDG-PETCT scan revealed FDG avid lesions in the left hypochondrium and lumbar region abutting the stomach, splenic surface, right costophrenic and abdominopelvic lymph nodes, bilateral iliac fossa and in the pelvis. Ultrasound-guided biopsy of the left hypochondriac lesion done. Based on histopathological and immunohistochemical investigations, it was diagnosed to be a DSRCT with multifocal presentation. Patient received adjuvant chemotherapy with VAC/IE, post chemotherapy tumour response was suboptimal, so patient underwent cytoreductive surgery and HIPEC therapy. Despite advances in multimodal therapy, outcomes remain poor since the majority of patients present disease recurrence and die within three years. The dismal survival makes DSRCT an orphan disease with an urgent need for new drugs.
Metrics
References
Jayakrishnan T, Moll R, Sandhu A. Desmoplastic small round-cell tumor: retrospective review of institutional data and literature review. Anticancer Res. 2021;41:3859–66. DOI: https://doi.org/10.21873/anticanres.15179
Saltsman JA 3rd, Slotkin E, Tap WD. A novel image-based system for risk stratification in patients with desmoplastic small round cell tumor. J Pediatr Surg. 2020;55:376–80.
Wei G, Shu X, Zhou Y. Intra-abdominal desmoplastic small round cell tumor: current treatment options and perspectives. Front Oncol. 2021;11:705760. DOI: https://doi.org/10.3389/fonc.2021.705760
Morani AC, Bathala TK, Surabhi VR. Desmoplastic small round cell tumor: imaging pattern of disease at presentation. AJR Am J Roentgenol. 2019;212:45–54. DOI: https://doi.org/10.2214/AJR.18.20179
Hayes-Jordan A, LaQuaglia MP, Modak S. Management of desmoplastic small round cell tumor. Semin Pediatr Surg. 2016;25:299–304. DOI: https://doi.org/10.1053/j.sempedsurg.2016.09.005
Bulbul A, Fahy BN, Xiu J, Rashad S, Mustafa A, Husain H. Desmoplastic small round blue cell tumor: a review of treatment and potential therapeutic genomic alterations. Sarcoma. 2017;2:1278268. DOI: https://doi.org/10.1155/2017/1278268
Sawyer JR, Tryka AF, Lewis JM. A novel reciprocal chromosome translocation t(11;22) (p13;q12) in an intraabdominal desmoplastic small round-cell tumor. Am J Surg Pathol. 1992;16:411–6. DOI: https://doi.org/10.1097/00000478-199204000-00010
Lal DR, Su WT, Wolden SL. Results of multimodal treatment for desmoplastic small round cell tumors. J Pediatr Surg. 2005;40:251–5.
Devecchi, A., De Cecco, L., Dugo, M. The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition and immune response 06 Biological Sciences 0604 Genetics. Cancer Commun. 2018;38:1–14. DOI: https://doi.org/10.1186/s40880-018-0339-3
Negri T, Brich S, Bozzi F. New transcriptional-based insights into the pathogenesis of desmoplastic small round cell tumors (DSRCTs). Oncotarget 2017;8:32492–504. DOI: https://doi.org/10.18632/oncotarget.16477
Ostermeier A, McCarville MB, Navid F. FDG PET/CT imaging of desmoplastic small round cell tumor: Findings at staging, during treatment and at follow-up. Pediatr. Radiol. 2015;45:1308–15. DOI: https://doi.org/10.1007/s00247-015-3315-y
Saltsman JA, Goldman DA, Hammond. A novel image-based system for risk stratification in patients with desmoplastic small round cell tumor. J Pediatr Surg. 2020;55:376–80. DOI: https://doi.org/10.1016/j.jpedsurg.2018.02.068
Olivier-Gougenheim L, Orbach D, Atallah V. Desmoplastic small round cell tumors with ews-wt1 transcript expression: should we consider children and adult patients differently. J Pediatr Hematol Oncol. 2022;44:637–42. DOI: https://doi.org/10.1097/MPH.0000000000002252
Hayes-Jordan AA, Coakley BA, Green HL. Desmoplastic small round cell tumor treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy: results of a phase 2 Trial Ann Surg Oncol. 2018;25:872–7. DOI: https://doi.org/10.1245/s10434-018-6333-9
Schwarz RE, Gerald WL, Kushner BH, Coit DG, Brennan MF, La Quaglia MP. Ann Surg Oncol. 1998;5(5):87. DOI: https://doi.org/10.1007/BF02303860
Lal DR, Su WT, Wolden SL, Loh KC, Modak S, La Quaglia MP. J Pediat Surg. 2005;40(1):23. DOI: https://doi.org/10.1016/j.jpedsurg.2004.09.046
Subbiah V, Lamhamedi-Cherradi S, Cuglievan B, Menegaz BA, Camacho P, Huh W, et al. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research. 2018;24(19):12321. DOI: https://doi.org/10.1158/1078-0432.CCR-18-0202
Mello CA, Campos FAB, Santos TC, Silva MLG, Torrezan GT, Costa FD, et al. The SIKness of DSRCT: salt inducible kinase 1 is a potential therapeutic target in desmoplastic small round cell tumor. Cancers. 2021;13(3):23. DOI: https://doi.org/10.3390/cancers13030498
Thway K, Noujaim J, Zaidi S. Desmoplastic Small Round Cell Tumor: Pathology, Genetics and Potential Therapeutic Strategies. Int J Surg Pathol. 2016;24:672–84. DOI: https://doi.org/10.1177/1066896916668637
Downloads
Published
How to Cite
Issue
Section
