Subcutaneous desmoplastic small round‐cell tumor: An unusual primary location expanding the differential of superficial 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 Kidney: A Case Report in a 14-Year-Old Girl with Molecular Confirmation

Pediatric and Developmental Pathology ◽

10.2350/06-10-0177.1 ◽

2007 ◽

Vol 10 (4) ◽

pp. 320-324 ◽

Cited By ~ 15

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.

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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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