Variant EWS-WT1 Chimeric Product in the Desmoplastic Small Round Cell Tumor

Chromosome translocations found in neoplasms often result in the creation of hybrid genes encoding chimeric proteins. Desmoplastic small round cell tumor (DSRCT) is a recently described aggressive malignancy associated with a unique chromosomal translocation t(11;22)(p13; q12). This translocation has recently been characterized, revealing the rearrangement and fusion of the WT1 gene on chromosome 11 to the EWS gene on chromosome 22. Fusion of these two genes results in the production of a putative oncogenic protein composed of the zinc finger DNA-binding domains of WT1 linked to the potential transcriptional regulatory domains of EWS. The typical chimeric transcript consists of the first 7 exons of EWS and the last 3 exons of WT1. We report here the first case of DSRCT with a variant EWS-WT1 chimeric product that includes 9 exons of EWS and 3 exons of WT1.

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Desmoplastic Small Round Cell Tumor: Current Management and Recent Findings

Sarcoma ◽

10.1155/2012/714986 ◽

2012 ◽

Vol 2012 ◽

pp. 1-5 ◽

Cited By ~ 55

Author(s):

Armelle Dufresne ◽

Philippe Cassier ◽

Laure Couraud ◽

Perrine Marec-Bérard ◽

Pierre Meeus ◽

...

Keyword(s):

Abdominal Cavity ◽

Hepatic Metastases ◽

Chromosomal Translocation ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Desmoplastic Stroma ◽

Liver Embolization

Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Patients typically present with symptoms of abdominal sarcomatosis. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. DSRCT is associated with a unique chromosomal translocation t(11:22) (p 13; q 12) that involves theEWSR1andWT1genes. The prognosis is particularly poor; median survival ranges from 17 to 25 months, largely due to the presentation of the majority of patients with metastatic disease. Management of DSRCT remains challenging and current schemes lack a significant cure rate despite the use of aggressive treatments such as polychemotherapy, debulking surgery and whole abdominal radiation. Several methods are being evaluated to improve survival: addition of chemotherapy and targeted therapies to standard neoadjuvant protocol, completion of surgical resection with HIPEC, postoperative IMRT, treatment of hepatic metastases with [90Y]Yttrium microsphere liver embolization.

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Desmoplastic small round cell tumors of the pleura: a review of the clinical literature

Multidisciplinary Respiratory Medicine ◽

10.4081/mrm.2017.248 ◽

2017 ◽

Vol 12 ◽

Author(s):

Alessandro Giuseppe Fois ◽

Pietro Pirina ◽

Antonella Arcadu ◽

Francesca Becciu ◽

Sandra Manca ◽

...

Keyword(s):

Clinical Manifestations ◽

Cell Tumor ◽

Chest Roentgenogram ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

First Case ◽

Rare Malignancy ◽

Round Cell Tumors

Desmoplastic small round cell tumor of the pleura is a rare malignancy, with only a few cases reported in the scientific literature. The aim of the present review is to discuss the demographic, pathological, clinical, and therapeutic features of this rare tumor. English-language articles published since 1989, when the first case of desmoplastic small round cell tumor of the pleura was described, were retrieved, and fifteen cases included in fourteen articles were revised. The mean age of the patients was 25.5 years, out of them 60% were males. Chest pain, pleural effusion, and dyspnea were the most common clinical manifestations, while chest roentgenogram and computed tomography were the imaging techniques most commonly used. Surgical biopsy was employed in 80% of the cases for diagnosis. A multidisciplinary approach consisting in a combination of surgery with chemotherapy and radiation therapy was adopted in most cases. Only two patients (13.3%) were alive at 3 years from diagnosis, reflecting the aggressiveness of the disease, and the poor outcomes of the treatments currently available. Desmoplastic small round cell tumors of the pleura are extremely aggressive and challenging to diagnose, because of their rarity and unspecific demographic, clinical, and radiological features. An in-depth knowledge of such features is necessary for the optimal management of patients with this rare malignancy.

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Primary desmoplastic small round cell tumor of the testis: First case in India and review of the literature

Journal of Cancer Research and Therapeutics ◽

10.4103/0973-1482.138210 ◽

2015 ◽

Vol 11 (3) ◽

pp. 650 ◽

Cited By ~ 3

Author(s):

YS Pawar ◽

MV Manjula

Keyword(s):

Cell Tumor ◽

Round Cell ◽

Review Of The Literature ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

First Case

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Desmoplastic small round cell tumor showing solid proliferation with limited desmoplasia and confusing immunohistochemical findings: an autopsy report

Medical Molecular Morphology ◽

10.1007/s00795-019-00242-5 ◽

2020 ◽

Vol 53 (3) ◽

pp. 177-182

Author(s):

Atsushi Kihara ◽

Kazuya Takahashi ◽

Ayataka Ishikawa ◽

Yusuke Amano ◽

Daisuke Matsubara ◽

...

Keyword(s):

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Autopsy Report

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FDG PET/CT imaging of desmoplastic small round cell tumor: findings at staging, during treatment and at follow-up

Pediatric Radiology ◽

10.1007/s00247-015-3315-y ◽

2015 ◽

Vol 45 (9) ◽

pp. 1308-1315 ◽

Cited By ~ 15

Author(s):

Austin Ostermeier ◽

M. Beth McCarville ◽

Fariba Navid ◽

Scott E. Snyder ◽

Barry L. Shulkin

Keyword(s):

Fdg Pet ◽

Ct Imaging ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Pet Ct ◽

Fdg Pet Ct

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Desmoplastic Small Round Cell Tumor of the Submandibular Gland: A Case Report and Literature Review

ORL ◽

10.1159/000517563 ◽

2021 ◽

pp. 1-6

Author(s):

Qingjiao Li ◽

Xiaolu Yuan

Keyword(s):

Submandibular Gland ◽

Young Patients ◽

Neck Region ◽

Cell Tumor ◽

Pelvic Cavity ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

The Right

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressively malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However, few cases had been reported concerning DSRCT occurring in the head and neck region. We presented a rare case of DSRCT of the right submandibular in a 25-year-old man. MRI revealed a 3 × 2-cm solid nodule located in the right submandibular, and physical examination showed no other occupying lesion elsewhere. Histologically, the tumor was composed of various-sized small round cell nests, embedded in an abundant desmoplastic stroma. Immunohistochemically, the tumor cells were typically positive for epithelial (CK and EMA), mesenchymal (vimentin and desmin), and neuroendocrine (CD56, NSE, Syn, and CgA) markers, but negative for WT1. Fluorescence in situ hybridization revealed the presence of a break apart involving the Ewing sarcoma (EWS) gene. The patient received chemotherapy and radiotherapy and relapsed after 19 months of follow-up. DSRCT of the submandibular gland is rare, and the diagnosis of this tumor in an uncommon location relies on the histomorphology, immunophenotype, and EWS gene translocation detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.

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The Role and Clinical Effectiveness of Multiline Chemotherapy in Advanced Desmoplastic Small Round Cell Tumor

Clinical Medicine Insights Oncology ◽

10.1177/1179554920987107 ◽

2021 ◽

Vol 15 ◽

pp. 117955492098710

Author(s):

Hyehyun Jeong ◽

Yong Sang Hong ◽

Young-Hoon Kim ◽

Chan Wook Kim ◽

Si Yeol Song ◽

...

Keyword(s):

Medical Center ◽

Complete Resection ◽

Cell Tumor ◽

Line Treatment ◽

Round Cell ◽

First Line ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

First Line Treatment

Background: A multimodal approach is the standard treatment for desmoplastic small round cell tumor (DSRCT); however, many patients are diagnosed with inoperable disease, which leaves chemotherapy as the only treatment option. There are limited data on the effectiveness of palliative chemotherapy, especially when used after first-line treatment. Here, we evaluated the clinical outcomes of patients with DSRCT treated with multiple lines of chemotherapy. Methods: We reviewed medical records of 14 patients with pathologically confirmed DSRCT at Asan Medical Center between 2004 and 2018. Results: The median age at diagnosis was 25, with males comprising 92.9% of patients. All patients had inoperable disease at presentation and received chemotherapy as the initial treatment. Four patients (28.6%) were treated with surgery, and complete resection was achieved in 1 patient. Median overall survival (OS) was 23.9 months, and 1-, 2-, and 3-year survival rates were 92.9%, 48.6%, and 19.5%, respectively. In patients receiving first- (N = 14), second- (N = 10), and third-line (N = 8) chemotherapy, median time-to-progression was 9.9, 3.5, and 2.5 months, respectively, and the disease control rates were 100%, 88.9%, and 75.0%, respectively. Factors associated with longer OS in the univariable analysis were ⩽2 metastatic sites at presentation (27.0 vs 14.7 months; P = .024) and surgery with intended complete resection (43.5 vs 20.1 months; P = .027). Conclusions: Although advanced DSRCT may initially respond to chemotherapy after first-line treatment, the response becomes less durable as the disease progresses. Individualized treatment decisions focused on palliation should be made.

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