scholarly journals Desmoplastic Small Round Cell Tumor with “Pure” Spindle Cell Morphology and Novel EWS-WT1 Fusion Transcript: Expanding the Morphological and Molecular Spectrum of This Rare Entity

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 545
Author(s):  
Gaetano Magro ◽  
Giuseppe Broggi ◽  
Angelica Zin ◽  
Vincenzo Di Benedetto ◽  
Mariaclaudia Meli ◽  
...  
Keyword(s):  
Cell Morphology ◽  
Spindle Cell ◽  
Fusion Transcript ◽  
Cell Tumor ◽  
Pcr Analysis ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Desmoplastic Stroma

Background: Desmoplastic small round cell tumor (DSRCT) is a rare pediatric soft tissue neoplasm composed of small round tumor cells with prominent stromal desmoplasia, polyphenotypic differentiation and EWSR1-WT1 gene fusion. We, herein, present a unique case of DSRCT, exhibiting a pure spindle cell morphology, absence of desmoplastic stroma and showing a novel EWS-WT1 fusion transcript. Methods: A 12-year-old boy presented multiple intra-abdominal, confluent and mass-forming nodules that affected the entire abdominal and pelvic cavities. Results: Histologically, the nodules were composed of spindle cells with scant cytoplasm and oval nuclei arranged into short, intersecting fascicles and set in a scant, non-desmoplastic, stroma. Immunohistochemically, neoplastic cells were stained with vimentin, desmin, WT-1 (C-terminus antibodies) and EMA. Reverse-transcriptase polymerase chain reaction (RT-PCR) analysis showed the presence of an unusual chimeric transcript, composed of an in-frame junction of exon 9 of EWS to exon 7 of WT1, confirming the histological diagnosis of DSRCT. Conclusions: The present case contributes to widen the morphological spectrum of this entity; notably, the additional presence of a novel chimeric fusion transcript contributes to making the present case even more unique. Whether the detection of the above-mentioned fusion transcripts could explain the unusual morphology of the tumor remains to be established.

Intraabdominal Desmoplastic Small Round Cell Tumor With EWS/ERG Fusion Transcript

1998 ◽  
Vol 22 (8) ◽  
pp. 1026-1032 ◽  
Author(s):  
Jaume Ordi ◽  
Enrique de Alava ◽  
Aureli Torné ◽  
Begoña Mellado ◽  
Javier Pardo-Mindan ◽  
...  
Keyword(s):  
Fusion Transcript ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

scholarly journals Desmoplastic Small Round Cell Tumor: Current Management and Recent Findings

Sarcoma ◽  
2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
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.

Primary Desmoplastic Small round Cell Tumor of the Kidney: A Case Report in a 14-Year-Old Girl with Molecular Confirmation

2007 ◽  
Vol 10 (4) ◽  
pp. 320-324 ◽  
Author(s):  
Sophie Collardeau-Frachon ◽  
Dominique Ranchère-Vince ◽  
Olivier Delattre ◽  
Stelly Hoarau ◽  
Philippe Thiesse ◽  
...  
Keyword(s):  
Fusion Transcript ◽  
Cell Tumor ◽  
Round Cell ◽  
Young Males ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Molecular Features ◽  
The Subject ◽  
Round Cell Tumors

We report a case of desmoplastic small round cell tumor (DSRCT) arising in the kidney of a 14-year-old female. The subject presented with gross hematuria. Medical imaging uncovered a left renal mass without regional or metastatic extension. The tumor showed morphological, immunohistochemical, and molecular features of DSRCT. Immunostaining revealed polyphenotypic differentiation. Molecular analysis detected the fusion transcript resulting from the t(11;22)(p13;q12) reciprocal translocation, which characterized this neoplasm. Desmoplastic small round cell tumor is a rare, aggressive neoplasm that mainly affects young males and that usually presents with widespread abdominal serosal involvement. This unusual localization should lead one to consider this tumor in the differential diagnosis of small blue round cell tumors of the kidney.

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

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

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

2015 ◽  
Vol 45 (9) ◽  
pp. 1308-1315 ◽  
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

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

ORL ◽  
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 <i>Ewing sarcoma</i> (<i>EWS</i>) 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 <i>EWS</i> gene translocation detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.

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

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.

scholarly journals Desmoplastic small round cell tumor: A case report of a rare differential diagnosis of solid tumors of the pleura

2015 ◽  
Vol 10 (5) ◽  
pp. 2991-2995 ◽  
Author(s):  
YUAN CAO ◽  
YING CHEN ◽  
LI YANG ◽  
ZI-HUA QIAN ◽  
SHU-GAO HAN ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Solid Tumors ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Rare Differential Diagnosis

Desmoplastic small round cell tumor 20 years after its discovery

2015 ◽  
Vol 11 (7) ◽  
pp. 1071-1081 ◽  
Author(s):  
Jaume Mora ◽  
Shakeel Modak ◽  
Nai-Kong Cheung ◽  
Paul Meyers ◽  
Enrique de Alava ◽  
...  
Keyword(s):  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell
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