Desmoplastic small round cell tumor (DSRCT), an aggressive malignancy classically seen in adolescents and young adults with a strong male predominance, is exceptionally rare in the ovary. We report a 33-year-old woman with ovarian DSRCT presenting as a pelvic mass and peritoneal metastases. Histopathology revealed small round cell nests within desmoplastic stroma, exhibiting atypical architectural patterns (single-file, follicular-like cystic, microcystic, and solid). Immunohistochemistry demonstrated coexpression of epithelial (pan-keratin) and mesenchymal markers (vimentin, desmin), while molecular analysis confirmed the EWSR1::WT1 gene fusion. Despite multimodal therapy, the patient died 24 months after surgery. A review of 23 ovarian DSRCTs proposed a classification: ovarian-dominant and extraovarian-dominant subtypes. Ovarian-dominant patients showed significantly prolonged median survival (24 vs 10 months, P = .026), underscoring the prognostic relevance of anatomical classification. Ovarian DSRCT poses diagnostic challenges due to histomorphological mimicry of common malignancies. Although this subclassification may aid prognostication, multicenter validation is warranted.
HonoréCDelhorme JBNassifE, 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;29:107–112.
2.
XiangTZhangSYWangSS, et al.A nationwide analysis of desmoplastic small round cell tumor. Medicine (Baltimore). 2020;99(30):e21337.
3.
MoraniACBathalaTKSurabhiVR, et al.Desmoplastic small round cell tumor: Imaging pattern of disease at presentation. Am J Roentgenol. 2019;212(3):W45–W54.
4.
GeraldWLRosaiJ. Case 2 desmoplastic small cell tumor with divergent differentiation. Pediatric Pathology. 1989;9(2):177–183.
5.
WaqarSHBAliH. Changing incidence and survival of desmoplastic small round cell tumor in the USA. Proc (Bayl Univ Med Cent). 2022;35(4):415–419.
6.
YoungRHEichhornJHDickersinGR, et al.Ovarian involvement by the intra-abdominal desmoplastic small round cell tumor with divergent differentiation: A report of three cases. Hum Pathol. 1992;23(4):454–464.
7.
ZaloudekCMillerTRSternJL. Desmoplastic small cell tumor of the ovary. Int J Gynecol Pathol. 1995;14(3):260–265.
8.
SlomovitzBMGirotraMAledoA, et al.Desmoplastic small round cell tumor with primary ovarian involvement: Case report and review. Gynecol Oncol. 2000;79(1):124–128.
9.
ParkerLPDuongJLWhartonJT, et al.Desmoplastic small round cell tumor: Report of a case presenting as a primary ovarian neoplasm. Eur J Gynaecol Oncol. 2002;23(3):199–202.
10.
ElhajjMMazurkaJDayaD. Desmoplastic small round cell tumor presenting in the ovaries: Report of a case and review of the literature. Int J Gynecol Cancer. 2002;12(6):760–763.
11.
OtaSUshijimaKFujiyoshiN, et al.Desmoplastic small round cell tumor in the ovary: Report of two cases and literature review. J Obstetr Gynaecol Res. 2010;36(2):430–434.
12.
FangXRodabaughKPenetranteR, et al.Desmoplastic small round cell tumor (DSRCT) with ovarian involvement in 2 young women. Appl Immunohistochem Mol Morphol. 2008;16(1):94–99.
13.
D'IppolitoGHuizingMTTjalmaWA. Desmoplastic small round cell tumor (DSRCT) arising in the ovary: Report of a case diagnosed at an early stage and review of the literature. Eur J Gynaecol Oncol. 2012;33(1):96–100.
14.
NakayamaJNassauSAtkinsK, et al.Desmoplastic small round cell tumor of the ovary: A rare but devastating disease in young women. Gynecol Oncol Case Rep. 2014;7:16–18.
15.
XieYPShenYM. Ovarian involvement of a desmoplastic small round cell tumor of unknown primary origin with lymph node and lung metastases: A case report. Oncol Lett. 2016;11(2):1125–1129.
16.
NeffRTKellertBIsleyM, et al.Management of a rapidly enlarging new adnexal mass: A rare case of desmoplastic small round cell tumor of the ovary arising in pregnancy. Gynecol Oncol Rep. 2016;17:23–25.
17.
AltalOFAleshawiAJTashtushNA, et al.A 23-year-old Jordanian woman with a desmoplastic small round cell tumor involving the ovary. Am J Case Rep. 2019;20:1675–1678.
18.
AtefAGaballaKZuhdyM, et al.Primary desmoplastic small-round-cell tumor of the ovary. J Egypt Natl Canc Inst. 2019;31(1):4.
19.
VujićGMikušMMatakL, et al.Desmoplastic small round cell tumor of the ovary: A case report with a new modality of treatment and review of the literature. Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics. 2020;42(5):297–302.
20.
PhulwareRHRoyMSinghN, et al.Desmoplastic small round cell tumor of the ovary. Indian J Pathol Microbiol. 2021;64(1):206–209.
21.
ShenWPTowneBZadehTM. Cytogenetic abnormalities in an intraabdominal desmoplastic small cell tumor. Cancer Genet Cytogenet. 1992;64(2):189–191. doi:10.1016/0165-4608(92)90355-C
22.
WarmkeLMPerretRLedouxP, et al.EWSR1::WT1 Fusions in neoplasms other than conventional desmoplastic small round cell tumor: Three tumors occurring outside the female genital tract. Mod Pathol. 2024;37(3):100418.
23.
MurphyAJBishopKPereiraC, et al.A new molecular variant of desmoplastic small round cell tumor: Significance of WT1 immunostaining in this entity. Hum Pathol. 2008;39(12):1763–1770.
24.
MarcelisLFolpe AL. “Putting the cart before the horse”: An update on promiscuous gene fusions in soft tissue tumors. Virchows Arch. 2025;486(5):905–921.
25.
KeilFDietmaierWFürstA, et al.Expanding the spectrum of tumors with EWSR::WT1 gene fusion by a peritoneal case that is not a desmoplastic small round cell tumor. Mod Pathol. 2023;36(5):100156.
26.
JingXYShenCQHeGQ, et al.Effective treatment of anlotinib combined with chemotherapy in children with desmoplastic small round cell tumor: A case series in a single-center and literature review. J Pediatr Hematol Oncol. 2024;46(3):159–164.
27.
ZucoVPasqualiSTortoretoM, et al.Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft. Dis Model Mech. 2023;16(6):dmm049649.
28.
Espinosa-CottonMGuoHFTickooSK, et al.Identification of immunotherapy and radioimmunotherapy targets on desmoplastic small round cell tumors. Front Oncol. 2023;13:1104693.
29.
Lamhamedi-Cherradi SEMaitituohetiMMenegazBA, et al.The androgen receptor is a therapeutic target in desmoplastic small round cell sarcoma. Nat Commun. 2022;13(1):3057.
30.
ReijersSJMSiewCCHKokNFM, et al.Intra-abdominal desmoplastic small round cell tumor (DSRCT) and the role of hyperthermic intraperitoneal chemotherapy (HIPEC): A review. Current Oncology. 2023;30(4):3951–3963.
