Materiały źródłowe

• #1 Desmoplastic small round cell tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dsrct/symptoms-causes/syc-20355405

  Desmoplastic small round cell tumors can happen to anyone, but they’re more common in young men and boys. […] It’s not clear what causes desmoplastic small round cell tumors. […] Cancer begins when a cell develops changes in its DNA. A cell’s DNA contains the instructions that tell a cell what to do. The changes tell the cell to multiply quickly. This creates a clump of cancer cells called a tumor. The cancer cells can invade and destroy healthy body tissue. In time, the cancer cells can break away and spread to other parts of the body. […] Healthcare professionals haven’t found many risk factors for desmoplastic small round cell tumors. This cancer can happen to anyone, but it’s more common in young men and boys.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Desmoplastic small round cell tumor (DSRCT) is an extremely rare, aggressive sarcoma affecting adolescents and young adults with male predominance. Generally, it originates from the serosal surface of the abdominal cavity. The hallmark characteristic of DSRCT is the EWSR1-WT1 gene fusion. This translocation up-regulates the expression of PDGFR, VEGF and other proteins related to tumor and vascular cell proliferation. […] The up-regulation of PDGFR is a hallmark event in the development and DSRCT. The role of PDGFR in the physiologic healing process is well described and is responsible for collagenous stromal production, inflammatory cell infiltration, especially macrophage chemotaxis and neo-angiogenesis, induces proliferation and is a chemo-attractant to fibroblasts and endothelial cells. The development and growth of DSRCT is primarily dependent on this translocation product.

• #3 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

  We know that in DSRCT, chromosomes (the structures in your cells that contain all of your genes) break apart and get put back together in the wrong way. This can cause cells to not function like they should. In DSRCT, a gene called EWS wrongly joins with a region called WT1. Doctors will look for this change in chromosomes to confirm that your cancer is DSRCT. […] We do not know if it runs in families because there are so few people with DSRCT.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFR that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density. […] More recently, the molecular analysis of 6 patients with DSRCT revealed a total of 137 somatic mutations which were related to specific biological processes: DNA damage-response (DDR) network and mesenchymal-epithelial reverse transition/epithelial-mesenchymal transition (MErT/EMT), reinforcing the relevance of these processes in tumor heterogeneity, aggressiveness and drug resistance. […] There are many similarities between DSRCT and Ewing Sarcoma (ES) family tumors. Most of these tumors carry the EWS translocation. However, one important molecular aberration that distinguishes DSRCT from ES is the increased Androgen Receptor (AR) expression.

• #5 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) is characterized by a specific and recurring chromosomal translocation event. The hallmark genetic aberration in DSRCT involves the fusion of two distinct genes: the Ewing sarcoma gene (EWSR1) and the Wilms tumor gene (WT1), which is expressed as t(11;22)(p13;q12). This fusion gene is considered a defining molecular feature of DSRCT and plays a pivotal role in the pathogenesis of the disease. The exact mechanism by which the EWSR1-WT1 fusion contributes to the development of DSRCT is not fully understood, but it is believed to function as an oncogenic transcription factor. […] While the EWSR1-WT1 fusion event is a defining feature of DSRCT, it is worth noting that not all individuals with this fusion gene develop the disease, suggesting that additional genetic and environmental factors may contribute to disease susceptibility and progression.

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

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

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. The chimeric product of the EWS-WT1 fusion protein acts as a dominant transcriptional activator factor that regulates the expression of several growth factor genes, including PDGFRA, IGF1R, EGFR, IL2, IL15 and also transcriptional factors such as MYC, PAX2 and WT1. The up-regulation of PDGFRα is a hallmark event in the development and DSRCT. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFRα that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Desmoplastic small round cell tumor (DSRCT) is an extremely rare, aggressive sarcoma affecting adolescents and young adults with male predominance. Generally, it originates from the serosal surface of the abdominal cavity. The hallmark characteristic of DSRCT is the EWSR1-WT1 gene fusion. This translocation up-regulates the expression of PDGFR, VEGF and other proteins related to tumor and vascular cell proliferation. […] The up-regulation of PDGFR is a hallmark event in the development and DSRCT. The role of PDGFR in the physiologic healing process is well described and is responsible for collagenous stromal production, inflammatory cell infiltration, especially macrophage chemotaxis and neo-angiogenesis, induces proliferation and is a chemo-attractant to fibroblasts and endothelial cells. The development and growth of DSRCT is primarily dependent on this translocation product.

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

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

  Desmoplastic small round cell tumour (DSRCT) is a highly aggressive soft-tissue sarcoma with distinctive morphological features and characteristic EWSR1::WT1 gene fusion. […] Genetically, DSRCT is characterised by recurrent chromosomal translocation t (11; 22) (p13; q12), resulting in in-frame fusion of the first 7 exons of EWSR1 (22q12.2) gene with exons 810 of WT1 (11p13) gene. […] The EWSR1::WT1 chimeric transcription factor in DSRCT consists of the aminoterminal domain (NTD) (with potent transcriptional activation activity) from the EWS gene, and a DNA-binding domain (zinc fingers 2 to 4) from the WT gene. […] Recent studies have demonstrated that the EWSR1::WT1 oncoprotein is essential to DSRCT growth in vivo and in vitro by transcriptionally activating a variety of target genes, notably several cell cycle genes controlling G1/S or G2/M transitions. […] DSRCT is highly aggressive and has a poor prognosis. The estimated 5-year overall survival rate is only 10%15%.

• #9 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. Patients present with hundreds of tumor implants in their abdominal cavity at various sites. […] DSRCT is characterized by the translocation, t(11;22)(p13;q12) which results in the EWSR1-WT1 gene fusion. […] The loss of the proximal zinc fingers of WT1 in the chimeric fusion protein converts WT1 from a transcriptional repressor to an activator and presumably initiates the oncogenic process in DSRCT. […] Although patients all harbor the EWSR1-WT1 driver mutation, there is substantial heterogeneity in treatment response and survival outcomes among DSRCT patients. […] The EWSR1-WT1 fusion is almost certainly a major driver in the early development and dispersion of DSRCT tumors.

• #10 Novel Secondary Somatic Mutations in Ewing’s Sarcoma and Desmoplastic Small Round Cell Tumors | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0093676

  Ewing’s sarcoma (ES) and desmoplastic small round cell tumors (DSRCT) are small round blue cell tumors driven by an N-terminal containing EWS translocation. Very few somatic mutations have been reported in ES, and none have been identified in DSRCT. The aim of this study is to explore potential actionable mutations in ES and DSRCT. […] Novel somatic mutations were identified in four out of 18 patients with advanced ES and two of 10 patients with advanced DSRCT (six out of 28 (21.4%)); KRAS (n=1), PTPRD (n=1), GRB10 (n=2), MET (n=2) and PIK3CA (n=1). […] We have reported several different mutations in advanced ES and DSRCT that have direct implications for molecularly-directed targeted therapy. […] Here we report potential actionable mutations identified in four patients with advanced ES and in two patients with advanced DSRCT. The mutations include KRAS (G13N), PTPRD (W775D), GRB10 (Q107stop and V109A), MET (T1010I and N375S) and PIK3CA (M1040I and G1049S).

• #11 Novel Secondary Somatic Mutations in Ewing’s Sarcoma and Desmoplastic Small Round Cell Tumors | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0093676

  Our study shows that 21.4% of patients (6 of 28) with advanced, heavily pretreated Ewing’s sarcoma family of tumors (ES, n=18; DSRCT, n=10) had secondary somatic molecular aberrations, including mutations in KRAS, PTPRD, GRB10, MET and PIK3CA. […] The specific genetic aberrations and their correlation with response and resistance may be also illuminating. […] In addition to the mutations in GRB10 and PTPRD that can directly affect IGF-1R signaling, an unexpected mutation in MET was identified in patients with ES and DSRCT. Patient 4 (ES, Table 2) demonstrated a MET T1010I mutation, which has been reported in lung cancer patients but never in ES. […] Patient 19 (DSRCT, Table 2) also demonstrated a c-MET N375S mutation in his tumor tissue. This is the most frequent mutation in MET and has primarily been reported in patients with lung cancer. However, this is the first time that the mutation has been reported in a patient with DSRCT.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFR that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density. […] More recently, the molecular analysis of 6 patients with DSRCT revealed a total of 137 somatic mutations which were related to specific biological processes: DNA damage-response (DDR) network and mesenchymal-epithelial reverse transition/epithelial-mesenchymal transition (MErT/EMT), reinforcing the relevance of these processes in tumor heterogeneity, aggressiveness and drug resistance. […] There are many similarities between DSRCT and Ewing Sarcoma (ES) family tumors. Most of these tumors carry the EWS translocation. However, one important molecular aberration that distinguishes DSRCT from ES is the increased Androgen Receptor (AR) expression.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFR that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density. […] More recently, the molecular analysis of 6 patients with DSRCT revealed a total of 137 somatic mutations which were related to specific biological processes: DNA damage-response (DDR) network and mesenchymal-epithelial reverse transition/epithelial-mesenchymal transition (MErT/EMT), reinforcing the relevance of these processes in tumor heterogeneity, aggressiveness and drug resistance. […] There are many similarities between DSRCT and Ewing Sarcoma (ES) family tumors. Most of these tumors carry the EWS translocation. However, one important molecular aberration that distinguishes DSRCT from ES is the increased Androgen Receptor (AR) expression.

• #14 Desmoplastic small round cell tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dsrct/symptoms-causes/syc-20355405

  Desmoplastic small round cell tumors can happen to anyone, but they’re more common in young men and boys. […] It’s not clear what causes desmoplastic small round cell tumors. […] Cancer begins when a cell develops changes in its DNA. A cell’s DNA contains the instructions that tell a cell what to do. The changes tell the cell to multiply quickly. This creates a clump of cancer cells called a tumor. The cancer cells can invade and destroy healthy body tissue. In time, the cancer cells can break away and spread to other parts of the body. […] Healthcare professionals haven’t found many risk factors for desmoplastic small round cell tumors. This cancer can happen to anyone, but it’s more common in young men and boys.

• #15 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. This type of cancer usually begins in the abdomen or pelvis, and does not respond well to treatment. Most patients (90%) are Caucasian males between the ages of 10 and 30. […] Experts do not know what causes DSRCT; however, they believe a genetic abnormality involving chromosomes 11 and 22 may play a part in this cancer. […] DSRCT is unlikely to be cured in the majority of patients. However, complete surgical resection by an experienced sarcoma surgeon has been shown to improve time to relapse and potentially provide cure in a subset of patients.

• #16 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. […] Peritoneal seeding, lymph nodal involvement, liver and bone metastases are common modes of spread.

• #17 Desmoplastic small round cell tumour in a 74 year old man: an uncommon cause of ascites (case report) | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-6-55

  A rare case is provided of a 74 year old man who presented with ascites of unknown etiology. […] DSRCT is an exceedingly rare malignancy, first described by Gerald and Rosai in 1989. […] DSRCT is an exceptionally rare malignancy, first described by Gerald and Rosai in 1989. […] DSRCT is an exceedingly rare cause of malignant ascites. […] Tumour analysis, most notably immunohistochemical and cytogenetic studies, has enhanced our ability to diagnose DSRCT and has identified it as a unique clinical entity. […] In summary, DSRCT is a rare and highly aggressive, cytogenetically unique malignancy. It represents an exceedingly uncommon cause of ascites.

• #18 CXCR4-Directed Imaging and Endoradiotherapy in Desmoplastic Small Round Cell Tumors | Journal of Nuclear Medicine

  https://jnm.snmjournals.org/content/64/9/1424

  DSRCT is characterized by immunologic ignorance. In particular, next-generation sequencing molecular profiling revealed a paucity of secondary mutations with notable heterogeneity between patients, and (except for FGFR4 mutations in only a small subset of patients), no suitable therapeutic targets could be identified. […] Because of the lack of clinical trials in this orphan disease, with approximately 1,000 patients reported to date, no standard therapy has been established. Patients with DSRCT have been compiled in sarcoma studies, and systemic chemotherapy regimens are derived from protocols established primarily for Ewing and other soft-tissue sarcomas. Complete resection has been shown to increase overall survival; however, as primary curative surgery is rarely achievable, multimodal treatment with aggressive induction with or without high-dose chemotherapy with autologous stem cell transplantation followed by cytoreductive surgery with or without hyperthermic intraperitoneal chemotherapy or whole-abdominal radiotherapy has been proposed. However, patients experience early relapse and prognosis remains poor, with a median OS of 24-29 months and 3-year and 5-year survival rates of 30%-35% and 4%, respectively. So far, targeted therapies with sunitinib and pazopanib, as well as immunotherapy with nivolumab or pembrolizumab, have demonstrated only limited effects.

• #19 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 a rare sarcoma predominantly affecting young adults, with an age-adjusted incidence of 0.3 per million. […] Most patients that develop DSCRT harbor the unique chromosomal translocation t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewings sarcoma (EWS) gene to the C-terminal domain of Wilms tumor-suppressor gene (WT1). […] While aggressive multimodality treatment is always warranted in patients with DSCRT given its aggressive nature, therapeutic options are often limited by the disease extent at presentation, which confers a poor prognosis. […] As a result, 60-70% of patients succumb to DSCRT within 2-3 years despite best care. […] DSCRT is characterized by the specific t(11;22)(p13;q12) translocation, with EWSR1WT1 gene fusion in the majority of cases.

• #20 Desmoplastic small round cell tumor | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor

  Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. […] The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. […] The genetic change involved in DSRCT is acquired throughout a person’s lifetime and is not inherited. […] GARD does not currently have information about the cause of this disease.

• #21 Desmoplastic Small Round Cell Tumors Overview and Treatment

  https://aeglecancerhospital.com/cancer_types/desmoplastic-small-round-cell-tumors-overview/

  Desmoplastic small round cell tumors (DSRCT) are a type of soft-tissue sarcoma. DSRCT causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. […] Although researchers think a problem with the genes may cause DSRCT, this has not been proven. […] In rare cases, DSRCT may be passed down from one generation to the next.

• #22 What are the causes of desmoplastic small round cell tumor?  – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/what-are-the-causes-of-desmoplastic-small-round-cell-tumor/

  Genetic factors play a big role in desmoplastic small round cell tumor (DSRCT). Changes in DNA might be one of the main causes. These changes, or mutations, can lead to abnormal growths. Mutations happen when there is a mistake during cell division. This mistake makes cells grow out of control. In DSRCT these faulty genes are often found in children and young adults. […] Some genetic mutations are inherited from parents. But most occur randomly over time. The exact cause of these random mutations is still not fully understood by doctors. Research shows that specific gene changes may trigger DSRCT. Knowing which genes are involved helps scientists study this rare cancer better. This knowledge could lead to new treatments someday. […] Environmental factors can also play a role in desmoplastic small round cell tumor (DSRCT). These influences come from the world around us. They might interact with our genes to cause tumors. For example exposure to certain chemicals may be linked to DSRCT causes. This can happen at work or even at home. Some people might have higher risks due to their surroundings.

• #23 What are the causes of desmoplastic small round cell tumor?  – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/what-are-the-causes-of-desmoplastic-small-round-cell-tumor/

  Pollution is another possible factor. Air and water quality could impact health over time. Living in areas with high pollution levels might increase the chances of getting this rare cancer. Radiation exposure is also worth noting. High doses of radiation can harm cells leading them to grow abnormally. Medical treatments like X-rays are generally safe but should still be used wisely. […] Desmoplastic small round cell tumor (DSRCT) is more common in young males. This rare cancer often shows up in boys and men between 10 to 30 years old. The reasons for this age range are still being studied. […] Age plays a big role in the development of DSRCT. Younger bodies are growing rapidly which might make them more prone to certain types of tumors. Hormonal changes during puberty could also be a factor.

• #24 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) is a rare but aggressive primitive malignant neoplasm that occurs mainly in adolescents and young adults. […] DSRCT of the pleura is extremely rare and, to the best of our knowledge, 15 cases of primary DSRCT in the pleura (including the present case) have been reported worldwide. […] Certain patients may have a history of exposure to asbestos, smoking and exposure to jute. No risk factors or specific causes were identified in the present case. […] Histologically, DRSCTs are characterized by nests of small round tumor cells embedded in a dense desmoplastic fibrous stroma. […] Gerald et al indicated that genetic studies are essential for accurate diagnosis in unclear cases, since these may identify the characteristic Ewing’s sarcoma (EWS)/WT-1 gene fusion product, which induces transcriptional activation and facilitates uncontrollable growth of tumor cells.

• #25 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. […] The exact cause of DSRCT is unknown, but it is associated with a chromosomal mutation involving the EWS-WT1 gene, which plays a role in tumor formation. […] There are no known specific risk factors for DSRCT. The condition occurs when chromosome changes create an abnormal gene called EWS-WT1, but the cause of the change is unknown. […] DSCRTs appear to arise from early developmental cells in childhood. The cell of origin for this tumor is unknown. […] The prognosis of patients diagnosed with desmoplastic round cell tumors is very poor, with a five-year survival rate of 15 to 38 percent.

• #26

  https://journals.lww.com/ijpm/fulltext/2021/64010/desmoplastic_small_round_cell_tumor_of_the_ovary_.48.aspx

  Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm of uncertain histogenesis that preferentially involves the abdominal and pelvic cavities. DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. It is a poorly understood malignancy with a very characteristic morphology, immunophenotype, cytogenetic features, and poor prognosis. […] The histogenesis of this tumor is still unclear, but co-expression of epithelial, mesenchymal, and neural antigens by tumor cells leads us to believe that DSRCT may arise from a primitive pluripotent stem cell with divergent differentiation. The origin of this tumor cell is still uncertain. However, Gerald et al. suggested that DSRCT could be of mesothelial origin on the basis of their growth on the peritoneal surfaces and involvement of WT1. […] In conclusion, based on previous studies and the present case, it is known that DSRCT is an uncommon and aggressive tumor that affects adolescents, particularly young men, and shows a distinct clinical presentation with extremely aggressive clinical behavior.

• #27 Intra-abdominal desmoplastic small round cell tumour | Cirugía y Cirujanos (English Edition)

  https://www.elsevier.es/en-revista-cirugia-cirujanos-english-edition–237-articulo-intra-abdominal-desmoplastic-small-round-cell-S244405071500087X

  The desmoplastic small round cell tumour is a rare and aggressive intra-abdominal neoplasia, with only 200 cases reported, and a higher incidence in men and predilection for the second decade of life. Histologically it is characterised by the presence of small nests of undifferentiated tumour cells, wrapped in fibrous desmoplastic stroma. […] The intra-abdominal desmoplastic small round cell tumour is a very rare aggressive neoplasm, with approximately 200 cases reported since it was first described in 1989 by Gerald and Rosai, who described that it has a higher incidence in the male gender, with a 210:1 ratio and it was more frequent during the twenties in 80% of the cases. […] Its histogenesis is uncertain, but it has been associated with the mesothelium, called mesothelioblastoma, based on its frequent relation with serous surfaces, immunoreactivity for WT1 and expression of epithelial and mesenchymal markers.

• #28

  https://journals.lww.com/ijpm/fulltext/2021/64010/desmoplastic_small_round_cell_tumor_of_the_ovary_.48.aspx

  Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm of uncertain histogenesis that preferentially involves the abdominal and pelvic cavities. DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. It is a poorly understood malignancy with a very characteristic morphology, immunophenotype, cytogenetic features, and poor prognosis. […] The histogenesis of this tumor is still unclear, but co-expression of epithelial, mesenchymal, and neural antigens by tumor cells leads us to believe that DSRCT may arise from a primitive pluripotent stem cell with divergent differentiation. The origin of this tumor cell is still uncertain. However, Gerald et al. suggested that DSRCT could be of mesothelial origin on the basis of their growth on the peritoneal surfaces and involvement of WT1. […] In conclusion, based on previous studies and the present case, it is known that DSRCT is an uncommon and aggressive tumor that affects adolescents, particularly young men, and shows a distinct clinical presentation with extremely aggressive clinical behavior.

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

  https://www.mdpi.com/2072-6694/16/23/4101?type=check_update&version=1

  Desmoplastic small round cell tumors (DSRCTs) are a rare and highly aggressive variant of soft tissue sarcomas, predominantly affecting the abdominal region. These tumors are believed to originate from multipotent mesenchymal stem cells or primitive progenitor cells. […] The molecular basis of DSRCTs involving the GI tract primarily focuses on the EWSR1::WT1 gene fusion. This key genetic change drives tumor development. It occurs due to a chromosomal rearrangement, specifically t(11;22)(p13;q12), which fuses the 5′ region of the Ewing sarcoma gene (EWSR1) with the 3′ DNA-binding domain of the Wilms tumor gene (WT1). […] DSRCTs are strongly associated with the gastrointestinal (GI) tract, most commonly arising in the abdominal region, including the retroperitoneum, pelvis, omentum, and mesentery.

• #30 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. […] The exact cause of DSRCT is unknown, but it is associated with a chromosomal mutation involving the EWS-WT1 gene, which plays a role in tumor formation. […] There are no known specific risk factors for DSRCT. The condition occurs when chromosome changes create an abnormal gene called EWS-WT1, but the cause of the change is unknown. […] DSCRTs appear to arise from early developmental cells in childhood. The cell of origin for this tumor is unknown. […] The prognosis of patients diagnosed with desmoplastic round cell tumors is very poor, with a five-year survival rate of 15 to 38 percent.

• #31 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 highly aggressive neoplasm that typically occurs in adolescent and young males. […] These cells co-express epithelial, mesenchymal, myogenic and neural markers, but are distinguished by the chromosomal translocation t(11;22)(p13;q12) resulting in the fusion of the Ewings sarcoma (EWSR1) and the Wilms tumour (WT1) genes. […] DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. […] The reported MS of DSRCT is in the region of 17 to 25 months. […] There is no general consensus on the best therapeutic approach, as strong evidence is lacking given the rarity of the disease, although multimodality treatment with chemotherapy, surgery and radiotherapy appears to represent optimal management.

• #32 Desmoplastic Small Round Cell Tumor : EMA

  https://www.webpathology.com/images/soft-tissue/uncertain-histogenesis/desmoplastic-small-round-cell-tumor/45143

  Desmoplastic small round cell tumors (DSRCT) are characterized by co-expression of epithelial, mesenchymal, and neural markers. […] Desmoplastic small round cell tumor (DSRCT) is a rare highly aggressive tumor of adolescent and young adults with a strong male predominance. […] 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.

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

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

  Desmoplastic small round cell tumour (DSRCT) is a highly aggressive soft-tissue sarcoma with distinctive morphological features and characteristic EWSR1::WT1 gene fusion. […] Genetically, DSRCT is characterised by recurrent chromosomal translocation t (11; 22) (p13; q12), resulting in in-frame fusion of the first 7 exons of EWSR1 (22q12.2) gene with exons 810 of WT1 (11p13) gene. […] The EWSR1::WT1 chimeric transcription factor in DSRCT consists of the aminoterminal domain (NTD) (with potent transcriptional activation activity) from the EWS gene, and a DNA-binding domain (zinc fingers 2 to 4) from the WT gene. […] Recent studies have demonstrated that the EWSR1::WT1 oncoprotein is essential to DSRCT growth in vivo and in vitro by transcriptionally activating a variety of target genes, notably several cell cycle genes controlling G1/S or G2/M transitions. […] DSRCT is highly aggressive and has a poor prognosis. The estimated 5-year overall survival rate is only 10%15%.

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

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

  Desmoplastic small round cell tumour (DSRCT) is a highly aggressive soft-tissue sarcoma with distinctive morphological features and characteristic EWSR1::WT1 gene fusion. […] Genetically, DSRCT is characterised by recurrent chromosomal translocation t (11; 22) (p13; q12), resulting in in-frame fusion of the first 7 exons of EWSR1 (22q12.2) gene with exons 810 of WT1 (11p13) gene. […] The EWSR1::WT1 chimeric transcription factor in DSRCT consists of the aminoterminal domain (NTD) (with potent transcriptional activation activity) from the EWS gene, and a DNA-binding domain (zinc fingers 2 to 4) from the WT gene. […] Recent studies have demonstrated that the EWSR1::WT1 oncoprotein is essential to DSRCT growth in vivo and in vitro by transcriptionally activating a variety of target genes, notably several cell cycle genes controlling G1/S or G2/M transitions. […] DSRCT is highly aggressive and has a poor prognosis. The estimated 5-year overall survival rate is only 10%15%.

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

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

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. The chimeric product of the EWS-WT1 fusion protein acts as a dominant transcriptional activator factor that regulates the expression of several growth factor genes, including PDGFRA, IGF1R, EGFR, IL2, IL15 and also transcriptional factors such as MYC, PAX2 and WT1. The up-regulation of PDGFRα is a hallmark event in the development and DSRCT. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFRα that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density.

• #36 CXCR4-Directed Imaging and Endoradiotherapy in Desmoplastic Small Round Cell Tumors | Journal of Nuclear Medicine

  https://jnm.snmjournals.org/content/64/9/1424

  DSRCT is characterized by immunologic ignorance. In particular, next-generation sequencing molecular profiling revealed a paucity of secondary mutations with notable heterogeneity between patients, and (except for FGFR4 mutations in only a small subset of patients), no suitable therapeutic targets could be identified. […] Because of the lack of clinical trials in this orphan disease, with approximately 1,000 patients reported to date, no standard therapy has been established. Patients with DSRCT have been compiled in sarcoma studies, and systemic chemotherapy regimens are derived from protocols established primarily for Ewing and other soft-tissue sarcomas. Complete resection has been shown to increase overall survival; however, as primary curative surgery is rarely achievable, multimodal treatment with aggressive induction with or without high-dose chemotherapy with autologous stem cell transplantation followed by cytoreductive surgery with or without hyperthermic intraperitoneal chemotherapy or whole-abdominal radiotherapy has been proposed. However, patients experience early relapse and prognosis remains poor, with a median OS of 24-29 months and 3-year and 5-year survival rates of 30%-35% and 4%, respectively. So far, targeted therapies with sunitinib and pazopanib, as well as immunotherapy with nivolumab or pembrolizumab, have demonstrated only limited effects.

• #37 CXCR4-Directed Imaging and Endoradiotherapy in Desmoplastic Small Round Cell Tumors | Journal of Nuclear Medicine

  https://jnm.snmjournals.org/content/64/9/1424

  C-X-C motif chemokine receptor 4 (CXCR4) was first identified as a coreceptor for HIV entry into cells. Beyond its role in various physiologic processes, including embryogenesis, angiogenesis, and modulation of hematopoietic stem cells, CXCR4 has gained attention because it is overexpressed in more than 20 different tumor entities, including sarcoma, with higher receptor expression denoting poor prognosis. In particular, among sarcomas, CXCR4 overexpression has been previously described in Ewing sarcoma, which shares many biologic features with DSRCT, providing a rationale for exploring and targeting CXCR4 in DSRCT. Recently, noninvasive visualization of CXCR4 in vivo using PET has become possible with the development of [68Ga]pentixafor. In addition, the first proof-of-concept studies have demonstrated the feasibility of subsequent receptor-directed endoradiotherapy in CXCR4-expressing diseases. […] In summary, CXCR4 is a promising diagnostic and therapeutic biomarker for DSRCT, as confirmed by immunohistochemistry and PET. We demonstrated the feasibility of CXCR4-directed endoradiotherapy and provided the first evidence of its antitumor activity.

• #38 Desmoplastic Small Round Cell Tumor : EMA

  https://www.webpathology.com/images/soft-tissue/uncertain-histogenesis/desmoplastic-small-round-cell-tumor/45143

  Desmoplastic small round cell tumors (DSRCT) are characterized by co-expression of epithelial, mesenchymal, and neural markers. […] Desmoplastic small round cell tumor (DSRCT) is a rare highly aggressive tumor of adolescent and young adults with a strong male predominance. […] 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.

• #39 Desmoplastic Small Round Cell Tumor : Differential Diagnosis

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

  Desmoplastic small round cell tumor (DSRCT) is a rare highly aggressive tumor of adolescent and young adults with a strong male predominance. […] 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.

• #40 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 highly aggressive neoplasm that typically occurs in adolescent and young males. […] These cells co-express epithelial, mesenchymal, myogenic and neural markers, but are distinguished by the chromosomal translocation t(11;22)(p13;q12) resulting in the fusion of the Ewings sarcoma (EWSR1) and the Wilms tumour (WT1) genes. […] DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. […] The reported MS of DSRCT is in the region of 17 to 25 months. […] There is no general consensus on the best therapeutic approach, as strong evidence is lacking given the rarity of the disease, although multimodality treatment with chemotherapy, surgery and radiotherapy appears to represent optimal management.

• #41 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 highly aggressive neoplasm that typically occurs in adolescent and young males. […] These cells co-express epithelial, mesenchymal, myogenic and neural markers, but are distinguished by the chromosomal translocation t(11;22)(p13;q12) resulting in the fusion of the Ewings sarcoma (EWSR1) and the Wilms tumour (WT1) genes. […] DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. […] The reported MS of DSRCT is in the region of 17 to 25 months. […] There is no general consensus on the best therapeutic approach, as strong evidence is lacking given the rarity of the disease, although multimodality treatment with chemotherapy, surgery and radiotherapy appears to represent optimal management.

• #42 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 highly aggressive neoplasm that typically occurs in adolescent and young males. […] These cells co-express epithelial, mesenchymal, myogenic and neural markers, but are distinguished by the chromosomal translocation t(11;22)(p13;q12) resulting in the fusion of the Ewings sarcoma (EWSR1) and the Wilms tumour (WT1) genes. […] DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. […] The reported MS of DSRCT is in the region of 17 to 25 months. […] There is no general consensus on the best therapeutic approach, as strong evidence is lacking given the rarity of the disease, although multimodality treatment with chemotherapy, surgery and radiotherapy appears to represent optimal management.

• #43 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. Patients present with hundreds of tumor implants in their abdominal cavity at various sites. […] DSRCT is characterized by the translocation, t(11;22)(p13;q12) which results in the EWSR1-WT1 gene fusion. […] The loss of the proximal zinc fingers of WT1 in the chimeric fusion protein converts WT1 from a transcriptional repressor to an activator and presumably initiates the oncogenic process in DSRCT. […] Although patients all harbor the EWSR1-WT1 driver mutation, there is substantial heterogeneity in treatment response and survival outcomes among DSRCT patients. […] The EWSR1-WT1 fusion is almost certainly a major driver in the early development and dispersion of DSRCT tumors.

• #44 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 highly aggressive neoplasm that typically occurs in adolescent and young males. […] These cells co-express epithelial, mesenchymal, myogenic and neural markers, but are distinguished by the chromosomal translocation t(11;22)(p13;q12) resulting in the fusion of the Ewings sarcoma (EWSR1) and the Wilms tumour (WT1) genes. […] DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. […] The reported MS of DSRCT is in the region of 17 to 25 months. […] There is no general consensus on the best therapeutic approach, as strong evidence is lacking given the rarity of the disease, although multimodality treatment with chemotherapy, surgery and radiotherapy appears to represent optimal management.

• #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

  The MS of patients diagnosed with DSRCT was 16 months in this study, which is slightly lower than those reported previously. […] In our study, we found that patients with intra-abdominal DSRCT have a poorer prognosis, although surgical resection for localised disease and radiotherapy, even in the metastatic setting for locoregional control, are associated with improved survival. […] Chromosomal translocation resulting in the fusion of the EWSR1 and WT1 genes is the molecular characteristic of DSRCT.

• #46 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. […] The exact cause of DSRCT is unknown, but it is associated with a chromosomal mutation involving the EWS-WT1 gene, which plays a role in tumor formation. […] There are no known specific risk factors for DSRCT. The condition occurs when chromosome changes create an abnormal gene called EWS-WT1, but the cause of the change is unknown. […] DSCRTs appear to arise from early developmental cells in childhood. The cell of origin for this tumor is unknown. […] The prognosis of patients diagnosed with desmoplastic round cell tumors is very poor, with a five-year survival rate of 15 to 38 percent.

• #47 Desmoplastic Small Round Cell Tumors (DSRCT)

  https://my.clevelandclinic.org/health/diseases/dsrct

  Researchers know this condition happens when changes in certain chromosomes create an abnormal gene known as EWS-WT1. They dont know what triggers the change. […] Desmoplastic small round cell tumors are rare and serious cancerous tumors that may come back within months or a year after treatment.

• #48 CXCR4-Directed Imaging and Endoradiotherapy in Desmoplastic Small Round Cell Tumors | Journal of Nuclear Medicine

  https://jnm.snmjournals.org/content/64/9/1424

  DSRCT is characterized by immunologic ignorance. In particular, next-generation sequencing molecular profiling revealed a paucity of secondary mutations with notable heterogeneity between patients, and (except for FGFR4 mutations in only a small subset of patients), no suitable therapeutic targets could be identified. […] Because of the lack of clinical trials in this orphan disease, with approximately 1,000 patients reported to date, no standard therapy has been established. Patients with DSRCT have been compiled in sarcoma studies, and systemic chemotherapy regimens are derived from protocols established primarily for Ewing and other soft-tissue sarcomas. Complete resection has been shown to increase overall survival; however, as primary curative surgery is rarely achievable, multimodal treatment with aggressive induction with or without high-dose chemotherapy with autologous stem cell transplantation followed by cytoreductive surgery with or without hyperthermic intraperitoneal chemotherapy or whole-abdominal radiotherapy has been proposed. However, patients experience early relapse and prognosis remains poor, with a median OS of 24-29 months and 3-year and 5-year survival rates of 30%-35% and 4%, respectively. So far, targeted therapies with sunitinib and pazopanib, as well as immunotherapy with nivolumab or pembrolizumab, have demonstrated only limited effects.

• #49 Desmoplastic small round cell tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dsrct/symptoms-causes/syc-20355405

  Desmoplastic small round cell tumors can happen to anyone, but they’re more common in young men and boys. […] It’s not clear what causes desmoplastic small round cell tumors. […] Cancer begins when a cell develops changes in its DNA. A cell’s DNA contains the instructions that tell a cell what to do. The changes tell the cell to multiply quickly. This creates a clump of cancer cells called a tumor. The cancer cells can invade and destroy healthy body tissue. In time, the cancer cells can break away and spread to other parts of the body. […] Healthcare professionals haven’t found many risk factors for desmoplastic small round cell tumors. This cancer can happen to anyone, but it’s more common in young men and boys.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7865637/

  Cytogenetic and molecular characterization of DSRCT identified a unique chromosomal rearrangement, t(11; 22)(p13; q12), associated with this tumor. The EWS-WT1 is the driver to tumorigenesis of DSRCT and it acts by up-regulating the expression of several genes. […] The EWS-WT1 transcription factor translocation produces a chimeric protein that induces the expression of PDGFR that can explain the histological characteristics of DSRCT that is marked by profuse stromal proliferation and increased vascular density. […] More recently, the molecular analysis of 6 patients with DSRCT revealed a total of 137 somatic mutations which were related to specific biological processes: DNA damage-response (DDR) network and mesenchymal-epithelial reverse transition/epithelial-mesenchymal transition (MErT/EMT), reinforcing the relevance of these processes in tumor heterogeneity, aggressiveness and drug resistance. […] There are many similarities between DSRCT and Ewing Sarcoma (ES) family tumors. Most of these tumors carry the EWS translocation. However, one important molecular aberration that distinguishes DSRCT from ES is the increased Androgen Receptor (AR) expression.

• #51 Desmoplastic small round cell tumor | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor

  Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. […] The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. […] The genetic change involved in DSRCT is acquired throughout a person’s lifetime and is not inherited. […] GARD does not currently have information about the cause of this disease.

• #52 Desmoplastic small round cell tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dsrct/symptoms-causes/syc-20355405

  Desmoplastic small round cell tumors can happen to anyone, but they’re more common in young men and boys. […] It’s not clear what causes desmoplastic small round cell tumors. […] Cancer begins when a cell develops changes in its DNA. A cell’s DNA contains the instructions that tell a cell what to do. The changes tell the cell to multiply quickly. This creates a clump of cancer cells called a tumor. The cancer cells can invade and destroy healthy body tissue. In time, the cancer cells can break away and spread to other parts of the body. […] Healthcare professionals haven’t found many risk factors for desmoplastic small round cell tumors. This cancer can happen to anyone, but it’s more common in young men and boys.

• #53

  https://journals.lww.com/ijpm/fulltext/2021/64010/desmoplastic_small_round_cell_tumor_of_the_ovary_.48.aspx

  Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm of uncertain histogenesis that preferentially involves the abdominal and pelvic cavities. DSRCT generally develops in the abdomen and have a tendency towards peritoneal spread, with subsequent metastasis to distant lymph nodes, liver and lungs. It is a poorly understood malignancy with a very characteristic morphology, immunophenotype, cytogenetic features, and poor prognosis. […] The histogenesis of this tumor is still unclear, but co-expression of epithelial, mesenchymal, and neural antigens by tumor cells leads us to believe that DSRCT may arise from a primitive pluripotent stem cell with divergent differentiation. The origin of this tumor cell is still uncertain. However, Gerald et al. suggested that DSRCT could be of mesothelial origin on the basis of their growth on the peritoneal surfaces and involvement of WT1. […] In conclusion, based on previous studies and the present case, it is known that DSRCT is an uncommon and aggressive tumor that affects adolescents, particularly young men, and shows a distinct clinical presentation with extremely aggressive clinical behavior.

• #54 What are the causes of desmoplastic small round cell tumor?  – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/what-are-the-causes-of-desmoplastic-small-round-cell-tumor/

  Genetic factors play a big role in desmoplastic small round cell tumor (DSRCT). Changes in DNA might be one of the main causes. These changes, or mutations, can lead to abnormal growths. Mutations happen when there is a mistake during cell division. This mistake makes cells grow out of control. In DSRCT these faulty genes are often found in children and young adults. […] Some genetic mutations are inherited from parents. But most occur randomly over time. The exact cause of these random mutations is still not fully understood by doctors. Research shows that specific gene changes may trigger DSRCT. Knowing which genes are involved helps scientists study this rare cancer better. This knowledge could lead to new treatments someday. […] Environmental factors can also play a role in desmoplastic small round cell tumor (DSRCT). These influences come from the world around us. They might interact with our genes to cause tumors. For example exposure to certain chemicals may be linked to DSRCT causes. This can happen at work or even at home. Some people might have higher risks due to their surroundings.

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

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

  Identifying other genes that may assist with risk assessment of this rare disease is important. […] In rare tumors such as DSCRT, cancer registries can be used to perform pooled analysis of a large number of patients and to assess their trends in treatment and outcomes. […] The high mortality from the disease is also universal. […] Despite aggressive therapy, outcomes continue to be poor and patient preferences on quality of life should be an important consideration in the decision-making process.

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