Materiały źródłowe

• #1 Desmoplastic Small Round Cell Tumor Diagnosis | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/desmoplastic-small-round-cell-tumors/desmoplastic-small-round-cell-tumors-diagnosis.html

  As part of one of the nations largest cancer centers, MD Andersons Childrens Cancer Hospital has more experience with desmoplastic small round cell tumors (DSRCT) than most other hospitals. We have the latest, most accurate technology to diagnose DSRCT, and our physicians are highly specialized. […] An early and accurate diagnosis greatly increases the chances for successful treatment. But, DSRCT is often misdiagnosed as other types of abdominal tumors until it has spread to other areas of the body. […] A biopsy is almost always needed to diagnose DSRCT. This involves removing a small amount of cells from the tumor or fluid in the abdomen and looking at them with a microscope. […] Desmoplastic small round cell tumors can be difficult to diagnose. The pathologists at Childrens Cancer Hospital are highly specialized in diagnosing complex cancers, including DSRCT.

• #2 Orphanet: Desmoplastic small round cell tumor

  https://www.orpha.net/en/disease/detail/83469

  Up to 30% of DSRCT cases are misdiagnosed leading to incorrect management. There are currently no validated recommendations on clinical management and no cytotoxic agents have been granted a European Marketing Authorization (MA) in this indication. Some teams have proposed treatment based on aggressive multiagent chemotherapy (off-label use), followed by optimal cytoreductive surgery and abdominal radiotherapy.

• #3 Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

  https://www.mdpi.com/2072-6694/13/3/498

  The disease predominantly originates from the peritoneum or retroperitoneum and can invade the omentum with multiple peritoneal implants involving the diaphragm, splenic hilum, mesentery of the small and large bowel, and the pelvic peritoneum. Patients can be asymptomatic for long periods of time until symptoms of pain, ascites, constipation, weight loss, distension and jaundice. Other sites of the primary tumor are described in the literature as the thoracic cavity, testicle, head and neck, intracranial, thigh, axilla/shoulder, intraosseous, uterine corpus, ovary, skull, middle ear, and others. About one-half of the patients will present extra-peritoneal metastasis at the time of the diagnosis, although this percentage was lower in the report of Stiles et al. The liver and lung are the two most common sites for distant metastasis.

• #4 Desmoplastic small round cell tumour | Sarcoma UK

  https://sarcoma.org.uk/about-sarcoma/what-is-sarcoma/types-of-sarcoma/desmoplastic-small-round-cell-tumour/

  Desmoplastic small round cell tumour is a rare type of soft tissue sarcoma, which is a type of cancer. […] A specialist doctor will diagnose desmoplastic small round cell tumour through a series of tests. These may include: […] A biopsy taking and testing a sample of the tumour. A doctor will look to see if the biopsy looks like desmoplastic small round cell tumour and whether it contains the chromosome error. […] There are an average of 12 cases of desmoplastic small round cell tumour diagnosed every year in England. […] Although it can affect anyone of any age, the median age at diagnosis is 23 years old. […] Symptoms of desmoplastic small round cell tumour can vary depending on the size and location of your tumour. […] If you have any of these symptoms, you should visit your GP.

• #5 Desmoplastic Small Round Cell Tumors (DSRCT)

  https://www.froedtert.com/sarcoma/conditions/desmoplastic-small-round-cell-tumor-dsrct

  Desmoplastic small round cell tumors (DSRCT) are a very rare type of soft tissue sarcoma. […] Symptoms of DSRCT can include abdominal pain, cramps, abdominal distention, a feeling of fullness and constipation. Patients often present with an abdominal mass. […] Patients typically receive imaging studies, including computed tomography (CT) and magnetic resonance imaging (MRI). Definitive diagnosis of DSRCT requires a tissue sample, which can be obtained either through a minimally invasive biopsy procedure or during surgery. Obtaining a tissue biopsy enables pathologists to identify the specific genetic change that is unique to DSRCT. This genetic mutation is not inherited, but is acquired during the individuals lifetime.

• #6 Desmoplastic small round cell tumor (peritoneal) | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/desmoplastic-small-round-cell-tumour-peritoneal?lang=us

  Desmoplastic small round cell tumors of the peritoneum are a rare and highly aggressive primary peritoneal malignancy. […] Desmoplastic small round cell tumor is usually seen in young adolescents and have a male predominance with a mean survival of 2-3 years. […] A desmoplastic small round cell tumor usually presents with a palpable abdominal mass and abdominal distension with discomfort. […] Solitary or multiple soft tissue masses are seen with no definite organ of origin, usually in the retrovesical or rectouterine space, which enhance heterogeneously on contrast studies. […] Peritoneal seeding, lymph nodal involvement, liver and bone metastases are common modes of spread.

• #7 Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

  https://www.mdpi.com/2072-6694/13/3/498

  The disease predominantly originates from the peritoneum or retroperitoneum and can invade the omentum with multiple peritoneal implants involving the diaphragm, splenic hilum, mesentery of the small and large bowel, and the pelvic peritoneum. Patients can be asymptomatic for long periods of time until symptoms of pain, ascites, constipation, weight loss, distension and jaundice. Other sites of the primary tumor are described in the literature as the thoracic cavity, testicle, head and neck, intracranial, thigh, axilla/shoulder, intraosseous, uterine corpus, ovary, skull, middle ear, and others. About one-half of the patients will present extra-peritoneal metastasis at the time of the diagnosis, although this percentage was lower in the report of Stiles et al. The liver and lung are the two most common sites for distant metastasis.

• #8 Desmoplastic Small Round Cell Tumor Treatment | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/childhood-cancer/solid-tumors/desmoplastic-small-round-cell-tumor.html

  DSRCT in the abdomen may not be found until the tumors have grown large. By then, the disease has often spread to the liver, lymph nodes, lungs, or bones. […] Tests to diagnosis DSRCT may include: A health history, physical exam, and blood tests, Imaging tests, A biopsy of the tumor. […] The tumor has a specific gene change that helps confirm the diagnosis.

• #9 Desmoplastic small round cell tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dsrct/diagnosis-treatment/drc-20449484

  Tests and procedures used to diagnose desmoplastic small round cell tumors include: […] Your healthcare professional might recommend a procedure to remove a sample of cells for testing. This is called a biopsy. […] Tissue samples are sent to a lab for testing. Tests can tell your healthcare team whether cancer is present. Other lab tests analyze the cancer cells to understand which DNA changes are present. The results can help rule out other similar types of cancer and ensure your diagnosis is correct. […] Imaging tests help your care team understand the size and location of your cancer. Imaging tests may include ultrasound, CT, MRI and positron emission tomography (PET). […] What kinds of tests do I need to confirm the diagnosis? Do these tests require any special preparation? […] What stage is the cancer? […] What treatments are available for desmoplastic small round cell tumors, and which do you recommend? […] Are there any alternatives to the primary approach that you’re suggesting? […] What types of side effects can I expect from treatment?

• #10 Desmoplastic Small Round Cell Tumors (DSRCT) – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors

  Desmoplastic small round cell tumors, or DSRCT, are tumors that grow in the abdomen and pelvic area of the body. […] How are desmoplastic small round cell tumors diagnosed? […] If you have symptoms of DSRCT, your doctor will use imaging scans such as ultrasound, CT, MRI, and PET, to look at where the tumors are and how big they are. […] To check if the tumor is DSRCT your doctor will do a biopsy, taking a small sample from the tumor with a needle. […] Doctors will look for this change in chromosomes to confirm that your cancer is DSRCT.

• #11 Desmoplastic small round cell tumor: an update of current management practices | Journal of the Egyptian National Cancer Institute | Full Text

  https://jenci.springeropen.com/articles/10.1186/s43046-025-00276-0

  Desmoplastic small round cell tumor (DSRCT) poses a diagnostic challenge, initiating with imaging techniques like ultrasound, CT, MRI, and PET scans, with CT being the primary choice for abdominal tumor visualization. Despite advances, the absence of a standardized staging system complicates the diagnostic process. […] Diagnosis begins with imaging to visualize the presence of a tumor and is confirmed by biopsy. Imaging techniques include ultrasound, computed tomography (CT), magnetic resonance imagining (MRI), and positron emission tomography PET scan. CT imaging has been shown to be the standard for initial tumor visualization of the abdominal area using intravenous contrast, whereas hepatic and pelvic lesions are better seen with MRI. Imaging often underestimates disease severity due to the metastases developing 12 mm sheets of tumor. The diagnostic process lacks a universally standardized staging system designed specifically for DSRCT. As of 2016, Hayes-Jordan et al. created a new staging system that was being used on a trial basis, but no further updates have been provided on the validity of the new staging system.

• #12 Desmoplastic small round cell tumour: the radiological, pathological and clinical features | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1007/s13244-012-0212-x

  Desmoplastic small round cell tumours (DSRCTs) are rare aggressive tumours of young adults that present late and have poor prognosis. This review discusses distinctive radiological features, histopathology and clinical course of this soft-tissue sarcoma. […] The imaging findings in our series represent the largest review in the literature to our knowledge. Characteristic imaging features included diffuse peritoneal/omental masses (95 %) with multiple soft tissue deposits seen in 79 % of these cases. A dominant soft tissue mass not involving a visceral organ of origin, either solitary or at least twice the size of other peritoneal/omental lesions was seen in 80 % of patients. […] There is unanimous support for CT as the primary imaging modality of choice in DSRCT, with ultrasound and MRI offering additional information in individual cases. FDG-PET/CT can infer a response to treatment and may prove useful in tumour relapse.

• #13 Desmoplastic small round cell tumor: the report of two cases and literature analysis review of the radiological findings – Chen – Quantitative Imaging in Medicine and Surgery

  https://qims.amegroups.org/article/view/114164/html

  The characteristic imaging finding of DSRCT is multiple soft tissue masses in the abdomen and pelvis involving the omentum or mesentery without an exact organ of origin. […] The PET-CT scan of case 1 clearly revealed distant left supraclavicular fossa and mediastinal lymph node metastases in addition to CT-visible intra-abdominal metastases. […] At present, there is no standard treatment protocol for DSRCT, and complete surgical resection of DSRCT is crucial when technically feasible. […] Despite advances in multimodal therapy, patients with DSRCT have a poor prognosis, with about 6070% dying from the disease within 23 years. […] By integrating morphology, immunohistochemistry, and molecular genetics, DSRCT can be accurately diagnosed.

• #14 Imaging Diagnosis of Desmoplastic Small Round Cell Tumor: A Report of Two Cases

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11088365/

  Desmoplastic small round cell tumor (DSRCT) is a rare multifocal peritoneal sarcoma, typically found in adolescent and young adult males. […] Diagnosis is primarily histopathological, although imaging results can assist in the diagnostic process. […] Common imaging findings include one or multiple peritoneal masses without a clear organ of origin, ascites, intraabdominal lymphadenopathy, and sometimes distant metastases. […] Based on imaging findings, a diagnosis of peritoneal sarcoma vs desmoplastic small round cell tumor was made. […] The diagnosis of DSRCT is typically made based on histological findings showing well-defined nests of small, round cells with abundant desmoplastic stroma. […] Imaging findings in the literature are primarily based on tomographic results. […] The key intra-abdominal discovery is the existence of numerous soft tissue masses or nodules with no clear origin from a solid organ.

• #15 Desmoplastic small round cell tumor: the report of two cases and literature analysis review of the radiological findings – Chen – Quantitative Imaging in Medicine and Surgery

  https://qims.amegroups.org/article/view/114164/html

  The characteristic imaging finding of DSRCT is multiple soft tissue masses in the abdomen and pelvis involving the omentum or mesentery without an exact organ of origin. […] The PET-CT scan of case 1 clearly revealed distant left supraclavicular fossa and mediastinal lymph node metastases in addition to CT-visible intra-abdominal metastases. […] At present, there is no standard treatment protocol for DSRCT, and complete surgical resection of DSRCT is crucial when technically feasible. […] Despite advances in multimodal therapy, patients with DSRCT have a poor prognosis, with about 6070% dying from the disease within 23 years. […] By integrating morphology, immunohistochemistry, and molecular genetics, DSRCT can be accurately diagnosed.

• #16 Imaging Diagnosis of Desmoplastic Small Round Cell Tumor: A Report of Two Cases

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11088365/

  Among multiple abdominal masses, the largest or most prominent ones are typically located retrovesically or rectouterinely and in the peritoneal or omental region. […] The spread patterns of DSRCT involve contiguity, as well as hematogenous and lymphatic pathways. […] Other findings reported may include secondary hydronephrosis, ascites, and pleural effusion, depending on the extent of local and metastatic involvement. […] To date, there is still no effective therapeutic strategy, with reported five-year survival rates between 4% and 18% despite aggressive therapeutic management. […] The prognosis remains poor despite varied treatments, highlighting the need for further research to improve outcomes.

• #17 Orphanet: Desmoplastic small round cell tumor

  https://www.orpha.net/en/disease/detail/83469

  An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. […] The diagnosis is difficult due to the rarity of the tumor and its similarities with other small round cell tumors. Diagnosis is based on clinical signs, endoscopic examination (laparoscopy) and/or imaging techniques (radiography, chest-abdominal-pelvic computed tomography (CAP-CT)). Biopsy of the mass shows nests of poorly differentiated small round cells with little cytoplasm and hyperchromatic nuclei that are surrounded by desmoplastic stroma. Cells can present an epithelial, mesenchymal, or neuronal differentiation. The diagnosis is confirmed by the presence of a polyphenotypic immunoprofile (tumor cells express several cytokeratins (KL1, AE1/AE3), desmin, and neuron-specific enolase), and by molecular identification (FISH, RT-PCR) of the EWSR1/WT1 translocation.

• #18 Desmoplastic Small Round Cell Tumor

  https://www.webpathology.com/images/soft-tissue/uncertain-histogenesis/desmoplastic-small-round-cell-tumor

  Desmoplastic small round cell tumor (DSRCT) is a rare highly aggressive tumor of adolescent and young adults with a strong male predominance. The tumor is large and multinodular with a firm, gray-white cut surface and areas of hemorrhage, necrosis and cystic change. It is composed of undifferentiated small blue cells arranged in sharply demarcated nests in a background of vascular desmoplastic stroma. Most cases co-express epithelial (cytokeratin AE1/AE3, EMA), mesenchymal (vimentin, desmin – paranuclear dot-like positivity), and neural markers (NSE). DSRCT shows chromosomal translocation t(11:22) (p13; q12) involving the EWSR1 gene (22q12) and WT1 gene (11p13). The translocation results in the expression of a chimeric EWSR1-WT1 protein that acts as a powerful mitogen and permits tumor growth. The EWSR1-WT1 fusion can be detected by RT-PCR or FISH. The differential diagnosis included other small round blue cell tumors. The prognosis is dismal with a 5-yr survival rate of less than 15%. […] The treatment consists of a combination of extensive debulking procedure, intraperitoneal/systemic chemotherapy, radiotherapy with or without stem cell transplantation.

• #19 Immunophenotype of Desmoplastic Small Round Cell Tumors as Detected in Cases with EWS-WT1 Gene Fusion Product | Modern Pathology

  https://www.nature.com/articles/3880751

  Desmoplastic small round cell tumor is a rare tumor typically involving peritoneum. […] Detection of the EWS-WT1 gene fusion is characteristic of desmoplastic small round cell tumor and has been used reliably in tumor diagnosis. […] Detection of EWS-WT1 fusion becomes critical for the diagnosis when the characteristic divergent phenotype cannot be detected immunohistochemically. […] Detection of EWS-WT1 fusion transcript by reverse transcription-polymerase chain reaction (RT-PCR) has been used reliably to enhance our ability to diagnose desmoplastic small round cell tumor, particularly for those arising outside the abdominal cavity and those with unusual morphologic variation. […] The majority of desmoplastic small round cell tumors can be reliably diagnosed based on the characteristic morphology and immunohistochemical profile.

• #20 Desmoplastic Small Round Cell Tumor : Differential Diagnosis

  https://www.webpathology.com/images/soft-tissue/uncertain-histogenesis/desmoplastic-small-round-cell-tumor/45140

  The differential diagnosis of desmoplastic small round cell tumor (DSRCT) is wide and includes other small round blue cell tumors such as Ewing family of tumors, alveolar rhabdomyosarcoma, neuroblastoma, lymphoma, poorly differentiated carcinoma, small cell carcinoma, Merkel cell carcinoma, and malignant mesothelioma. […] In difficult or atypical cases, RT-PCR or FISH analysis for EWSR1-WT1 fusion can be performed. […] Most cases co-express epithelial (cytokeratin AE1/AE3, EMA), mesenchymal (vimentin, desmin – paranuclear dot-like positivity), and neural markers (NSE). […] DSRCT shows chromosomal translocation t(11:22) (p13; q12) involving the EWSR1 gene (22q12) and WT1 gene (11p13). […] The EWSR1-WT1 fusion can be detected by RT-PCR or FISH.

• #21 A Case of Intra-Abdominal Desmoplastic Small Round Cell Tumor in a Young Girl Patient

  https://www.clinmedjournals.org/articles/ogcr/obstetrics-and-gynaecology-cases-reviews-ogcr-5-128.php?jid=ogcr

  The main aim of this case report was to present the method of diagnosis, management, and prognosis of a young adolescent diagnosed with a desmoplastic small round cell tumor (DSRCT). […] The diagnosis is anatomopathological. […] The diagnosis is made after histological and immunohistochemical study of the resected tumor or biopsy during laparoscopy, however cytogenetic study requires samples of good quality. […] The immunohistochemical profile is characterized by the co-expression of epithelial (cytokeratin, EMA), mesenchymal (vimentin, desmin) and neural markers (NSE). […] The EWS-WT1 gene fusion has more recently been discovered to be disease-specific to DSRCT. […] The prognosis remains bleak and evolution is usually done to death, despite a heavy therapeutic care including surgery, high-dose chemotherapy and sometimes radiotherapy.

• #22 Desmoplastic small round cell tumor: A case report of a rare differential diagnosis of solid tumors of the pleura

  https://www.spandidos-publications.com/10.3892/ol.2015.3680

  Desmoplastic small round cell tumor (DSRCT) presents as a rare separate clinical pathological entity, and pleural DSRCT is very rare. […] Review of the English literature revealed that, to date, 15 cases of primary DSRCT in the pleura (including the present case) have been reported worldwide. […] The primary diagnostic feature of DRSCTs is the coexpression of epithelial, mesenchymal and neural cell markers, supported by molecular studies which have identified a specific translocation t (11;22) (p13;q12) unique to this neoplasm. […] Although pleural DSRCT is rare and the final diagnosis depends on histopathology or gene analysis, it should be considered in the differential diagnosis list of large solid masses of the pleura with slight-moderate enhancement on contrast CT, particularly when there is insufficient evidence for the diagnosis of malignant pleural mesothelioma, localized fibrous tumor of the pleura or other relatively common diseases of the pleura in adolescents and young adults.

• #23 Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

  https://www.mdpi.com/2072-6694/13/3/498

  The differential diagnosis of DSRCTs can be made with a spectrum of other round cell neoplasms, which includes ES, rhabdomyosarcoma, small cell carcinoma and mesothelioma. Since the diagnosis of DSRCT is made by a combination of the histologic appearance and immunohistochemical staining results, it can be challenging in core biopsy specimens, once some of the distinctive features such as the prominent stromal pattern may not be easily appreciable, and atypical immunohistochemical features can be present due to the limited material. DSRCT is distinguished from the other neoplasms by the presence of EWS-WT1 translocation, ideally performed by PCR or FISH or by immunohistochemistry staining if the former are not available. Nowadays, large fusion panels using RT-PCR are able to help in differentiating small round cell sarcomas from the ES family and new entities are being recognized such as tumors harboring CIC-DUX4, BCOR-CCNB3 and CIC-FOX04 fusions.

• #24 Primary desmoplastic small round cell tumour of the prostate | Journal of Clinical Pathology

  https://jcp.bmj.com/content/78/1/64

  The EWSR1::WT1 fusion is considered to be a specific diagnostic molecular change for DSRCT, which can be readily demonstrated by fluorescence in situ hybridisation (FISH) or next-generation sequencing. […] We herein report two cases of primary DSRCTs of the prostate (both clinically suspected as advanced-stage prostate carcinoma) with the typical morphological and immunohistochemical features of DSRCT and the characteristic EWSR1::WT1 fusion confirmed by FISH. […] The diagnoses were confirmed by typical morphological, immunohistochemical features and the characteristic EWSR1::WT1 fusion. […] These cases of primary DSRCT originating from the prostate broaden the anatomic distribution of this rare tumour, which should alert the pathologists to include DSRCT in the differential diagnosis of poorly differentiated or small round cell tumours of the prostate.

• #25 Desmoplastic Small Round Cell Tumors of the Gastrointestinal Tract

  https://www.mdpi.com/2072-6694/16/23/4101

  The homogenous presence of the EWSR1::WT1 fusion oncogene in DSRCTs can be detected by several molecular studies, such as Next Generation Sequencing (NGS), which is the most reliable diagnostic tool available. […] All in all, a multimodal approach incorporating clinical history and physical examination, histopathology, IHC, molecular diagnostics, and appropriate imaging are all needed to diagnose and manage DSRCTs of the GI tract.

• #26 Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation

  https://www.wjgnet.com/2307-8960/full/v2/i8/367.htm

  Cytogenetics, FISH, RT-PCR and molecular testing are crucial in rendering the correct diagnosis. […] The differential diagnosis of a small round cell tumor includes Ewing sarcoma, Wilms tumor, neuroblastoma, medulloblastoma, rhabdomyosarcoma, small cell osteosarcoma, small cell synovial sarcoma, small cell carcinoma, lymphoma, and rhabdoid tumor. […] However in the present case, the tumor cells were negative for many epithelial, myogenic and neural markers and positive only for vimentin, CD56 and desmin. […] Cytogenetic and molecular studies are crucial in these cases in rendering an accurate diagnosis. […] Even though the characteristic EWSR1/WT1 translocation can be detected by reverse transcription polymerase chain reaction (RT-PCR), cytogenetic testing is necessary to detect tumor-defining translocations, novel translocations and complex karyotypic aberrations.

• #26 Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation

  https://www.wjgnet.com/2307-8960/full/v2/i8/367.htm

  Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. […] DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. […] In the present case, the neoplastic cells were positive only for vimentin, desmin (cytoplasmic membranous pattern) and CD56, and negative for smooth muscle actin, synaptophysin, CD117, CD45, myogenin, CAM5.2, pancytokeratin, WT1, EMA, CD99, neurofilament, CD34 and p53. […] Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. […] This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.

• #27 Diagnosis of desmoplastic small‐round‐cell tumor by cytogenetic analysis: a case report

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4856250/

  We herein present atypical histologic and immunohistochemical features of DSRCT. […] Cytogenetic analysis may solve diagnostic dilemmas such as that in our case. […] Cytogenetic analysis was necessary for a definitive diagnosis in this case. […] Definitive diagnosis was achieved in our case by cytogenetic analysis. […] Cytogenetic analysis may resolve diagnostic dilemmas such as that in our case.

• #28 Clinicopathological investigation of four cases of desmoplastic small round cell tumor

  https://www.spandidos-publications.com/10.3892/ol.2012.750

  The purpose of this study was to perform clinicopathological and immunohistochemical analysis and to investigate the Ewing sarcoma gene (EWS)-Wilms’ tumor suppressor gene (WT1) fusion within desmoplastic small round cell tumors (DSRCTs). […] DSRCT is a rare but aggressive malignancy with a poor prognosis and its etiopathogenesis remains unknown. […] The reciprocal chromosomal translocation t(11;22)(p13;q12) is specific for DSRCT and this translocation results in the fusion of the Ewing sarcoma gene (EWS) on chromosome 22 with the Wilms’ tumor suppressor gene (WT1) on chromosome 11. […] Basic morphological features, clinical manifestations and the detection of the EWS-WT1 fusion transcript within the tumor aid the recognition and diagnosis of the tumor. […] DSRCT must be distinguished from other small round cell tumors, including Ewing’s sarcoma/primitive neuroectodermal tumors (PNET), neuroblastoma, rhabdomyosarcoma, malignant mesothelioma, small cell carcinoma, lymphoma, synovial sarcoma and gastrointestinal stromal tumor.

• #29 Desmoplastic small round cell tumor of abdomen: Case report of a very rare sarcoma with diagnostic challenge – Journal of Case Reports and Images in Oncology

  https://www.ijcrioncology.com/archive/article-full-text/100084Z10SA2021

  Imaging studies in DSRCT do not show specific findings, but these findings suggest this disease when a young patient presents with an abdominal or pelvic mass with extensive peritoneal disease and ascites without definitive organ involvement. […] Even after a biopsy of a DSRCT tumor, the diagnosis may still be challenging because, microscopically, the tumor appears as round blue cells with the possibility for many differential diagnoses, for example, Ewings sarcoma. However, the presence of extensive collagenous stroma points to the correct diagnosis. Furthermore, by using IHC, the tumor was shown to co-express many marker (epithelial, mesenchymal, neural, and muscle). The most important confirmatory test, which is found in more than 90% of patients, was the presence of the translocation t(11;22) (p13;q12) and detection of EWS-WT1 gene by reverse transcriptase polymerase chain reaction. […] Its diagnosis may be challenging and needs the correlation of clinical, radiological, morphological, immunohistochemical, and even genetic data to reach a diagnosis, especially in atypical presentations.

• #30 A Rare and Aggressive Abdominopelvic Tumor: A Case of Desmoplastic Small Round Cell Tumor in a Young Male – Caucasian Medical Journal

  https://caucasianmedj.com/articles/a-rare-and-aggressive-abdominopelvic-tumor-a-case-of-desmoplastic-small-round-cell-tumor-in-a-young-male/doi/cmj.galenos.2025.49368

  Immunohistochemical analysis showed positivity for desmin and EMA, and negativity for CK7, CK20, myogenin, MyoD1, and p63. […] Early diagnosis and management are of importance, given the aggressive nature of DSRCT and the poor prognosis associated with metastatic disease. […] DSRCT can be confused with other abdominal tumors such as lymphoma, rhabdomyosarcoma, neuroblastoma, primitive neuroectodermal tumor, small cell mesothelioma, Ewings sarcoma, and Wilms tumor, especially in young patients. […] Immunohistochemical staining is critical for confirming the diagnosis and differentiating DSRCT from other tumors. […] The prognosis for DSRCT remains poor, with overall survival rates ranging from only 15% to 30% at five years, according to recent studies. […] DSRCT remains a diagnostic challenge, particularly in young male patients in whom more common malignancies such as lymphoma and germ cell tumors are initially considered.

• #31 Small round cell tumours – Libre Pathology

  https://librepathology.org/wiki/Small_round_cell_tumours

  Desmoplastic small round cell tumour (DSRCT) is included in the differential diagnosis of small round cell tumours. […] Desmoplastic small round cell tumour (DSRCT) is characterized by nests with „jigsaw” border. […] The diagnosis of desmoplastic small round cell tumour involves immunohistochemical markers such as keratin+, EMA+, and desmin+.

• #32 Desmoplastic small-round-cell tumor – Wikipedia

  https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor

  Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. […] Because this is a rare tumor, not many family physicians or even oncologists are familiar with this disease. DSRCT in young patients can be mistaken for other abdominal tumors including rhabdomyosarcoma, neuroblastoma, and mesenteric carcinoid. In older patients DSRCT can resemble lymphoma, peritoneal mesothelioma, and peritoneal carcinomatosis. […] DSRCT is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a sarcoma center. […] The prognosis for DSRCT remains poor. Prognosis depends upon the stage of the cancer. Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body.

• #33 :: iMRI :: Investigative Magnetic Resonance Imaging

  https://i-mri.org/DOIx.php?id=10.13104/imri.2019.23.4.361

  The number of DSRCT cases is small. There have been less than 300 cases of radiological reports, most of which are done using CT. CT is helpful for initial staging and follow up of DSRCT. DSRCT presents itself as a form of multiple heterogeneous enhancing masses in the abdominopelvic cavity. […] In such cases, large retroperitoneal mass and liver metastasis might be diagnosed as retroperitoneal GIST, retroperitoneal neuroendocrine tumor, retroperitoneal sarcoma, adrenal malignancy, etc. […] This case presented liver metastasis, the most common visceral metastasis. Other types of metastases included lung, bone, spleen, and pleura. The involvement of ascites and lymphadenopathy has been reported. However, no previous cases have revealed malignant portal vein thrombosis as observed in this case.

• #34 Desmoplastic small round cell tumor of the kidney: a case report | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-020-01015-w

  Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm seen in children and young adults, usually manifested by involvement of abdominal serosa. […] Proffering this diagnosis is particularly difficult for tumors of viscera because of the incognizance of the entity in these locations. Moreover, DSRCT is a great mimicker and may get easily confused with more common kidney malignancies of childhood such as Wilms tumor, PNET/EWS, rhabdoid tumor, clear cell sarcoma, and other small round cell tumors as well as renal cell carcinomas. The distinction is critical as the accurate therapeutic approach will require correct diagnosis. […] The pathologic diagnosis of this entity can be markedly challenging when it develops in visceral organs such as kidney and especially if diverse and confounding microscopic features are present.

• #35 Desmoplastic small round cell tumor of the kidney: a case report | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-020-01015-w

  The recognition of the morphologic diversity is important to avoid a misinterpretation during pathologic diagnosis especially when tumors are located in unusual sites. […] DSRCT is known to have a poor prognosis. Our patient who presented with multiple distant metastases at the initial diagnosis died at the 30th month despite radical operation and intensive chemotherapy. However, the detection of the disease at early stage and complete resectability may provide significant prognostic benefit as previously reported: 6 out of 11 renal DSRCTs were stated alive without disease, keeping in mind that the follow-up durations are too short to drive a reliable conclusion. The best therapeutic modality has yet to be explored for renal DSRCT. A combination of total resection and chemotherapy seems to be the most preferred strategy at the moment.

• #36 ThinPrep Cytological Findings of Desmoplastic Small Round Cell Tumor with Extensive Glandular Differentiation: A Case Study

  https://www.jpatholtm.org/journal/view.php?doi=10.4132/KoreanJPathol.2013.47.2.182

  Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive neoplasm. The cytological diagnosis of this tumor has only been reported in a few cases. In most of these cases, the diagnosis was made using fine-needle aspiration cytology. […] The initial peritoneal-washing fluid (ThinPrep) diagnosed the tumors as „adenocarcinoma” because the clusters of tumor cells revealed finger-like buddings. […] The most distinct cytological feature of DSRCT compared to the other small round cell tumors, is its stromal fibrillary fragment, which is not a commonly found in body fluid, and can only be found using fine-needle aspiration cytology. […] To the diagnosis of DSRCT, however, can be established using the correlation of the clinical, cytological, and immunohistochemical features.

• #37 Immunophenotype of Desmoplastic Small Round Cell Tumors as Detected in Cases with EWS-WT1 Gene Fusion Product | Modern Pathology

  https://www.nature.com/articles/3880751

  A panel of multiple myoid and epithelial markers should always be employed in the immunohistochemical workup of this neoplasm. […] In such cases, differential diagnosis from other round cell tumors might become difficult, and detection of the EWS-WT1 fusion product by molecular methods would be critical in the diagnosis of desmoplastic small round cell tumor.

• #38 Desmoplastic Small Round Cell Tumors | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/d/desmoplastic-small-round-cell-tumors

  Desmoplastic small round cell tumors (DSRCT) are a type of rare, soft tissue sarcoma. […] DSRCT is a very rare cancer. Therefore, patients who have it should be treated at a comprehensive sarcoma center with experts in the field of radiation oncology, surgery and oncology who have experience and expertise in diagnosing and treating this disease. […] A physical exam, biopsy and imaging tests are done to diagnose DSRCT. A small piece of the tumor is removed during a needle biopsy or surgical procedure. A specialist then examines the tissue under a microscope to check for DSRCT. […] Imaging tests are done to find out the precise size and position of the tumor, and to see whether the cancer has spread. […] Staging of DSRCT is based on the size of the tumor and whether it has spread to lymph nodes or distant sites in the body.

• #39 Desmoplastic Small Round-cell Tumor: Retrospective Review of Institutional Data and Literature Review | Anticancer Research

  https://ar.iiarjournals.org/content/41/8/3859

  Desmoplastic small round-cell tumor (DSCRT) in adults is an extremely rare (age-adjusted incidence 0.3 per million) and aggressive sarcoma with limited data for optimal management. […] While aggressive multimodality treatment is always warranted for DSCRT, the options are limited by the multicentric presentation, short-lived initial response and lack of established subsequent therapy portending a poor prognosis. […] Definitive diagnosis is dependent on molecular analysis by cytogenetics and in situ hybridization or reverse transcriptase polymerase chain reaction studies. DSCRT is characterized by the specific t(11;22)(p13;q12) translocation, with EWSR1WT1 gene fusion in the majority of cases. […] Once diagnosis is established, risk classification for prognostication has been validated based on imaging findings as follows: Intermediate risk: no liver involvement or ascites; high risk: either liver involvement or ascites; very high risk: both liver involvement and ascites.

• #40 Desmoplastic Small Round Cell Tumors (DSRCT) Diagnosis | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/pediatrics/cancer-care/types/desmoplastic-small-round-cell-tumors-dsrcts/diagnosis

  An accurate diagnosis is essential to ensure that your child gets the most-effective therapy. Desmoplastic small round cell tumors (DSRCTs) are so rare that many doctors overlook them. […] Your child’s pathology team will analyze a sample of the tumor. This is called a tissue biopsy. Our surgeons obtain this sample while your child is sedated with anesthesia. We look for the unique genetic marker found only in DSRCTs. […] In addition to a tissue biopsy, your child will typically also have imaging tests to determine if the cancer has spread. This process is called staging. Staging is important because it enables doctors to determine the best care plan for your child. Imaging tests may include CT scanning, MRI, and PET scanning.

• #41 Desmoplastic small round cell tumor (DSRCT) | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/desmoplastic-small-round-cell-tumor-dsrct

  Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive type of soft tissue sarcoma that primarily affects adolescents and young adults, with a higher incidence in males. […] Diagnosis typically involves imaging techniques followed by a biopsy to confirm the presence of the tumor and genetic markers. […] Patients are often misdiagnosed at the onset of symptoms, and the rapid growth of the tumor cells can lead to an advanced stage, in which the cancer has spread to lymph nodes and other organs before being diagnosed. […] Confirmation of DSCRT is usually done by biopsy. Identification of a chromosomal mutation involving the translocation of the WT1 gene on chromosome 11 and the EWSR1 gene on chromosome 22 has been useful in confirming the diagnosis of the tumor. This is done using genetic tests.

• #42 Desmoplastic Small Round Cell Tumors – Support finding a pediatric cancer cure

  https://sarcomafree.org/desmoplastic-small-round-cell-tumors/

  Desmoplastic small round cell tumors (DSRCT) are extremely rare. They predominantly affect young white males between the ages of 10 and 30. […] Since DSRCT was first identified in 1989, there have been approximately 200 reported cases. […] Doctors will look for this change in chromosomes to confirm cancer is DSRCT. […] DSRCT is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a sarcoma center. […] If you notice any of these symptoms, it’s important to visit your GP for a thorough evaluation. Early detection and diagnosis are crucial for effective treatment. […] Diagnosing desmoplastic small round cell tumor (DSRCT) involves a series of tests conducted by a specialist doctor. […] To determine if a tumor is a desmoplastic small round cell tumor (DSRCT), your doctor will perform a biopsy. […] These diagnostic steps are crucial for accurately identifying DSRCT and determining the best course of treatment.

• #43 Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

  https://www.mdpi.com/2072-6694/13/3/498

  Multimodal therapy combining multi-agent intensive chemotherapy, aggressive debulking surgery and adjuvant radiotherapy is considered the standard of care for patients presenting without extra-abdominal metastases. As most of the cases present as intra-peritoneal, aggressive tumors, the main guidelines recommend initiating treatment with systemic chemotherapy. Although DSRCT is not specifically addressed by ESMO or NCCN guideline, this recommendation is stated by the Chicago Consensus on Peritoneal Malignancies and by the MDAnderson Cancer Center nomogram. The role of surgery in the management of DSRCT is well established in the literature. In a review of 12 patients treated at Mayo Clinic, Hassan et al. showed the median survival of patients treated with surgical resection was 34 months, whereas the median survival of those who underwent biopsy alone was 14 months. In the report of Wong et al., the median survival for patients who had a resection for their abdominal or pelvic tumors was 47 months, compared to 16 months for those who did not. Complete cytoreductive surgery is associated with improved survival and should be considered a cornerstone of treatment together with chemotherapy.

• #44 Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

  https://www.mdpi.com/2072-6694/13/3/498

  Despite multimodal treatment, DSRCT has a poor prognosis, and approximately 60–70% of patients die due to disease progression usually within 3 years after diagnosis. The median overall survival varies between 28–60 months, with a median disease-free survival between 10–15.5 months. One study proposed that the absence of extra-peritoneal metastasis, complete surgical resection and postoperative WAP-RT are factors predictive of 3-year overall survival. The multimodality treatment combining chemotherapy, cytoreductive surgery, HIPEC and WAP-RT can warrant local control of the disease, but patients will still present distant metastasis during follow-up, meaning that more effective chemotherapy is necessary to improve long-term outcomes.

• #45 Desmoplastic small round cell tumour: characteristics and prognostic factors of 41 patients and review of the literature | Clinical Sarcoma Research | Full Text

  https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/2045-3329-3-14

  Desmoplastic small round cell tumour (DSRCT) is a rare but frequently fatal sarcoma, and many of its characteristics still require further clarification. […] Diagnosis was confirmed by immunohistochemistry and reviewed by central specialist histopathologists. […] The median age of presentation was 27 years (range 16 to 45 years), with a male-to-female ratio of 3:1. Ninety percent of patients had disease in the abdomen. […] The overall median survival (MS) was 16 months. […] Patients with extra-abdominal disease survived longer compared to those with tumours in the abdomen (all still alive vs MS of 15 months; P= 0.0246). […] Patients with non-metastatic intra-abdominal disease who underwent surgery had an MS of 47 months (16 months for those who did not have surgery; P=0.0235). […] Radiotherapy for locoregional control in patients with metastatic intra-abdominal DSRCT was associated with longer survival (MS of 47 vs 14 months; P=0.0147).

• #46

  https://journals.lww.com/md-journal/fulltext/2023/11100/desmoplastic_small_round_cell_tumor_of_the.71.aspx

  Desmoplastic small round cell tumor (DSRCT) is a rare malignant tumor with poor prognosis, usually involving the peritoneum. There are currently no standardized treatment approaches. This study helped to further advance our understanding of DSRCT, and help to guide therapy. […] DSRCT is currently diagnosed mainly based on histopathological, immunohistochemical, and cytogenetic studies to confirm characteristic chromosomal translocations. […] The reported case has raised awareness of the importance of DSRCT in the treatment of chemotherapy, including its role in the differential diagnosis of abdominal tumors. […] In clinical practice, the signs and symptoms of DSRCT do not have specific manifestations, and most patients only present as abdominal masses. […] Surgical resection, chemotherapy, and radiation therapy are currently the main treatment methods. […] Despite the existence of multimodal treatment, the overall survival rate of DSRCT patients at 5 years is very low, ranging from 15% to 30%.

• #47 Desmoplastic small round cell tumour: characteristics and prognostic factors of 41 patients and review of the literature | Clinical Sarcoma Research | Full Text

  https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/2045-3329-3-14

  A patients age, gender and size of presenting tumour do not have prognostic significance. […] The MS of patients diagnosed with DSRCT was 16 months in this study, which is slightly lower than those reported previously. […] In our study, the MS observed for patients who had resection for their abdominal or pelvic tumours was 47 months, compared to 16 months for those who did not. […] For patients with metastatic intra-abdominal DSRCT, palliative radiotherapy for locoregional disease control appeared to confer a survival advantage (MS of 47 vs 14 months in those who did not have radiotherapy). […] The use of WAP intensity-modulated radiation therapy (WAP-IMRT) was studied by Pinnix et al. at the MDACC. […] In our cohort of patients, other non-standard agents used include the anti-IGF-1R antibody figitumumab, the TKIs axitinib, pazopanib, sorafenib and sunitinib, as well as the mTOR inhibitor sirolimus. […] Advanced DSRCT is a rare, aggressive disease with invariably poor outcome that generally occurs in young men. […] It has a propensity to metastasise and at present, surgery, combination cytotoxic chemotherapy and radiotherapy remain the only standard therapeutic options.

• #48

  https://link.springer.com/article/10.1007/BF02303860

  Desmoplastic small round cell tumors (DSRCT or DSCT) are rare aggressive cancers of adolescence and early adulthood. […] This study correlates survival with treatment variables, including aggressive surgical debulking. […] Thirty-two patients with documented DSRCT received treatment at our institution. […] Improved survival is correlated with a complete or very good partial response to multimodality therapy, surgical debulking of more than 90% either before or after chemotherapy, and use of the P6 protocol. […] DSRCT is an aggressive cancer that occurs predominantly in young males. Improved survival is correlated with intense chemotherapy and aggressive resection.

• #49 Multi-site desmoplastic small round cell tumors are genetically related and immune-cold | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00257-9

  Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue sarcoma that is characterized by the EWSR1-WT1 fusion protein. […] To determine the genetic relatedness among these sites, exome and RNA sequencing were performed on 22 DSRCT specimens from 14 patients, four of whom had specimens from various tissue sites. […] Other than the EWSR1-WT1 fusion, very few secondary cancer gene mutations were shared among the sites. […] The transcriptome data were integrated using network analysis and drug target database information to identify potential therapeutic opportunities in EWSR1-WT1-associated pathways, such as PI3K and mTOR pathways. […] In addition, the low mutation burden was associated with an immune-cold state in DSRCT. […] Although patients all harbor the EWSR1-WT1 driver mutation, there is substantial heterogeneity in treatment response and survival outcomes among DSRCT patients.

• #50 Multi-site desmoplastic small round cell tumors are genetically related and immune-cold | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00257-9

  Analyses of sequencing panels, exomes, and genomes have identified recurrent secondary mutations in AR, FGFR4, ARID1A, TERT, TP53, MSH3, HRAS, TOP2A, TOPO1, PTEN, mucin genes, and others. […] Such characterization could improve our understanding of the heterogeneity within the multi-site tumors, uncover genetic events underlying neoplastic initiation, and inform the development of targeted therapeutic strategies. […] We conducted exome and RNA sequencing on 22 DSRCT specimens from 14 patients, four of whom had multiple specimens. […] Our DSRCT samples had a low mutation rate (median of 0.72 mutations per Mb), with a median of 23 non-silent mutations per tumor. […] Given the low prevalence of gene-level mutations, we interrogated whether pathways were recurrently altered by mapping all the mutated genes to pathways.

• #51 Multi-site desmoplastic small round cell tumors are genetically related and immune-cold | npj Precision Oncology

  https://www.nature.com/articles/s41698-022-00257-9

  The majority of these SCNAs involved entire chromosome arms or whole chromosomes, with very few significant focal events. […] Therefore, our phylogenetic tree analyses using both point mutation and SCNA data suggest that different tumors from the same DSRCT patients have a shared origin and are closely related. […] The majority of our DSRCT samples belonged to the immunologically cold group that lacks most types of immune cells. […] The immune infiltration scores of DSRCT were low and similar to those of tumor types for which immune checkpoint blockades inhibitors have low efficacy. […] Our findings demonstrate that multi-site tumors from individual DSRCT patients have a shared origin and are closely related.

• #52 Clinicopathological investigation of four cases of desmoplastic small round cell tumor

  https://www.spandidos-publications.com/10.3892/ol.2012.750

  Further characterization of the structural and functional attributes of the EWS-WT1 gene fusion may lead to an understanding of its role in tumor development and yield insight into the therapy of DSRCT. […] A wider availability of specific molecular markers of the tumor would provide auxiliary methods for primary diagnosis and treatment.

• #53 A Rare and Aggressive Abdominopelvic Tumor: A Case of Desmoplastic Small Round Cell Tumor in a Young Male – Caucasian Medical Journal

  https://caucasianmedj.com/articles/a-rare-and-aggressive-abdominopelvic-tumor-a-case-of-desmoplastic-small-round-cell-tumor-in-a-young-male/doi/cmj.galenos.2025.49368

  The unexpected diagnosis of DSRCT underscores the necessity of a thorough diagnostic approach, including histopathological and molecular analyses, to accurately classify rare tumors. […] Early diagnosis and comprehensive treatment planning, incorporating multimodal therapies such as chemotherapy, surgery, and radiation therapy, remain essential for improving survival outcomes.

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