Desmoplastic Small Round Cell Tumors: A review with focus on clinical management and therapeutic options

Hendricks, Anne; Boerner, Kevin; Germer, Christoph‐Thomas; Wiegering, Armin

doi:10.1016/j.ctrv.2020.102140

Cited by 18 publications

(21 citation statements)

References 94 publications

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“…As for molecular characteristics of DSRCT, previous literature described that almost all DSRCTs exhibit nuclear positivity for the DNA binding domain (C-terminal portion) of WT1, which can distinguish DSRCT from Wilms tumor and Ewing sarcoma ( 80 ). The specific chromosomal translocation t(11;22) (p13; q12) of DSRCT produces a chimeric EWSR1-WT1 fusion gene that encodes an aberrant transcription regulatory factor consisting of the C-terminal portion of WT1 and the trans-activation domain (N-terminal portion) of EWS ( 72 ).…”

Section: Diagnosismentioning

confidence: 99%

“…Vincristine, doxorubicin, and ifosfamide are a reasonable alternative regimen for older people who may not tolerate the intense regimen ( 73 ). For P6 chemotherapy-resistant patients, temozolomide/irinotecan, cyclophosphamide/topotecan, gemcitabine/docetaxel, and high-dose ifosfamide can be considered as second- or third-line chemotherapy regimens ( Table 4 ) ( 75 , 80 , 104 ). Some IDSRCT patients receive adjuvant chemotherapy (high-dose 5-FU, temozolomide/irinotecan-based therapy, and high-dose ifosfamide) ( 104 – 106 ) in combination with radiotherapy after CRS to increase the effectiveness of the surgery ( 105 , 106 ).…”

Section: Treatmentsmentioning

confidence: 99%

“…Immunohistochemical analyses of IDSRCT have shown the co-expression of epithelial (cytokeratin and epithelial membrane antigen), neuronal (NSE and CD56), myogenic (desmin), and mesenchymal (vimentin) differentiation markers and WT1 (C-terminus antibody) (Table 2). Notably, >90% of patients with DSRCT express desmin and EMA (80). Most IDSRCT patients typically do not express CD 99, HMB-45, S-100, and myogenin (75,81).…”

Section: Diagnosismentioning

confidence: 99%

“…Several studies have suggested that IDSRCT patients who have evident efficacy to neoadjuvant chemotherapy have an improved overall survival (OS) than those who are resistant to neoadjuvant therapy(27,103). )(75,80,104). Some IDSRCT patients receive adjuvant chemotherapy (high-dose 5-FU, temozolomide/ irinotecan-based therapy, and high-dose ifosfamide) (104-106) in combination with radiotherapy after CRS to increase the effectiveness of the surgery(105,106).…”

mentioning

confidence: 99%

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Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

et al. 2021

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Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor prognosis. The mechanism underlying the development of this neoplasm remains elusive, but all cases are characterized by the chromosomal translocation t (11;22) (p13; q12), which results in a formation of EWSR1-WT1 gene fusion. The diagnosis of IDSRCT is often made with core-needle tissue biopsy specimens or laparoscopy or laparotomy. Immunohistochemical analyses have shown the co-expression of epithelial, neuronal, myogenic, and mesenchymal differentiation markers. FISH or reverse transcription polymerase chain reaction detecting EWS-WT1 fusion can be performed to assist in molecular confirmation. There is no standard of care for patients with IDSRCT currently, and majority of newly diagnosed patients received the aggressive therapy, which includes >90% resection of surgical debulking, high-dose alkylator-based chemotherapy, and radiotherapy. More recently, targeted therapy has been increasingly administered to recurrent IDSRCT patients and has been associated with improved survival in clinical conditions. Immunotherapy as a possible therapeutic strategy is being explored in patients with IDSRCT. In this review, we summarize currently available knowledge regarding the epidemiology, potential mechanisms, clinical manifestations, diagnosis, treatment, and prognosis of IDSRCT to assist oncologists in comprehensively recognizing and accurately treating this malignancy.

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Section: Diagnosismentioning

confidence: 99%

Section: Treatmentsmentioning

confidence: 99%

Section: Diagnosismentioning

confidence: 99%

mentioning

confidence: 99%

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Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

et al. 2021

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“…Effective cytoreduction combined with comprehensive therapies, as the best treatment strategy presented in most studies, may improve patient survival rate [ 14 , 15 , 28 , 33 , 34 , 57 ]. With the in-depth analysis of molecular genetics of DSRCT, targeted therapy, immunotherapy, and other methods have been gradually applied to the treatment of DSRCT in recent years [ 58 , 59 ].…”

Section: Discussionmentioning

confidence: 99%

Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

Zhou

Luo

et al. 2022

Diagn Pathol

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Background Desmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis. The abdomen and pelvis have been reported as the primary localization sites. However, to the best of our knowledge, there are few reports on primary DSRCT in the submandibular gland. Case presentation We report a case of a 26-year-old Chinese man with a mass in the right submandibular gland. Imaging studies showed a hypoechoic mass in the right submandibular region. Intraoperative pathology revealed that the tumor tissue was composed of small round tumor cells and a dense desmoplastic stroma. On immunostaining, the tumor cells showed markers of epithelial, mesenchymal, myogenic, and neural differentiation. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization. Based on the overall morphological features and immunohistochemical findings, a final diagnosis of DSRCT was made. The patient was treated with comprehensive anti-tumor therapy mainly based on radiotherapy and chemotherapy. Conclusions DSRCT is an uncommon malignant neoplasm with rare submandibular gland involvement. In this report, we have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years. Considering the importance of differential diagnosis between DSRCT, especially with rare extra-peritoneal involvement, and small round blue cell tumors, a full recognition of the clinicopathological features will help to better diagnose this neoplasm.

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Long‐term survivors with desmoplastic small round cell tumor (DSRCT): Results from a retrospective single‐institution case series analysis

et al. 2023

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Objective To report on a retrospective study of primary DSRCT aiming at characterizing long‐term survivors (LTS). Methods All consecutive patients treated at our institution for a primary DSRCT between 2000 and 2021 were retrospectively identified. Patients received multiagent chemotherapy ± surgery ± hyperthermic intraperitoneal chemotherapy (HIPEC) ± whole abdomino‐pelvic radiotherapy (WAP‐RT) ± high‐dose chemotherapy ± maintenance chemotherapy (MC). Event‐free survival (EFS) and overall survival (OS) were estimated by Kaplan–Meier method. Patients alive, without evidence of disease at ≥36 months from diagnosis, were defined as LTS. Results Thirty‐eight patients were identified. All received multiagent chemotherapy; 27/38 (71%) surgery (7/27 [26%] plus HIPEC), 9/38 (24%) WAP‐RT, 12/38 (32%) MC. At a median‐follow‐up of 37 months (IQR 18–63), overall median‐EFS and median‐OS were 15 and 37 months, respectively. All events occurred within 35 months. In patients who underwent surgery, median‐EFS and median‐OS were 19 and 37 months (23 and 43 months after R0/R1, and 10 and 19 months after R2 resection), respectively. LTS were 5/38 (13%), alive at 37, 39, 53, 64, 209 months. None had liver or extra‐abdominal metastasis at diagnosis, they all received R0/R1 resection, 3/5 had WAP‐RT, 2/5 MC, 1/5 received high‐dose chemotherapy, none HIPEC. Conclusions In our series cure was likely achieved in 13% of DSRCT. LTS had no liver/extra‐abdominal disease, were treated with complete surgery, and possibly WAP‐RT/MC.

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Desmoplastic Small Round Cell Tumors: A review with focus on clinical management and therapeutic options

Cited by 18 publications

References 94 publications

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

Long‐term survivors with desmoplastic small round cell tumor (DSRCT): Results from a retrospective single‐institution case series analysis

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