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[[H&E stain]]. | pronounce = | width = 250 | field = [[Oncology]] | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = [[Five-year survival rate]] 15%<ref name="St. Jude">{{cite web|title=Desmoplastic Small Round Cell Tumor|url=https://www.stjude.org/disease/desmoplastic-small-round-cell-tumor.html|publisher=[[St. Jude Children's Research Hospital]]|access-date=March 22, 2023}}</ref> | frequency = ~200 cases reported<ref name="St. Jude"/><ref name="NCI">{{cite web|title=Desmoplastic Small Round Cell Tumors (DSRCT)|date=16 September 2019 |url=https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors|publisher=[[National Cancer Institute]]|access-date=March 22, 2023}}</ref> | deaths = }} '''Desmoplastic small-round-cell tumor''' (DSRCT) is an aggressive and rare [[cancer]] that primarily occurs as masses in the [[abdomen]].<ref>Lee YS, Hsiao CH: Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical and molecular study of four patients. J Formos Med Assoc 2007; 106: 854–860.</ref> Other areas affected may include the [[lymph nodes]], the lining of the [[abdomen]], [[diaphragm (anatomy)|diaphragm]], spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the [[pelvis]]. Reported sites of metastatic spread include the [[liver]], [[lung]]s, [[lymph nodes]], [[brain]], skull, and [[bone]]s. It is characterized by the EWS-WT1 fusion protein. The [[tumor]] is classified as a [[soft tissue sarcoma]] and a [[small round blue cell tumor]]. It most often occurs in male children. The disease rarely occurs in females, but when it does the tumors can be mistaken for [[ovarian cancer]].<ref name="pmid18081791">{{cite journal |vauthors=Bland AE, Shah AA, Piscitelli JT, Bentley RC, Secord AA |title=Desmoplastic small round cell tumor masquerading as advanced ovarian cancer |journal=International Journal of Gynecological Cancer |volume= 18|issue= 4|pages= 847–50|year=2007 |pmid=18081791 |doi=10.1111/j.1525-1438.2007.01110.x }}</ref> ==Signs and symptoms== [[Image:Dsrct1.jpg|thumb|right|Display of small round blue cells characteristic of desmoplastic small-round-cell tumor.]] [[Image:Dsrct2.jpg|thumb|right|Cell exhibiting blue oval and round shapes of desmoplastic small-round blue cell tumor]] There are few early warning signs that a patient has a DSRCT. Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and symptoms are often misdiagnosed by physicians. The abdominal masses can grow to enormous size before being noticed by the patient. The tumors can be felt as hard, round masses by palpating the abdomen.{{cn|date=March 2022}} First symptoms of the disease often include abdominal distention, abdominal mass, abdominal or back pain, gastrointestinal obstruction, lack of appetite, [[ascites]], anemia, and [[cachexia]].{{cn|date=March 2022}} Other reported symptoms include unknown lumps, thyroid conditions, hormonal conditions, blood clotting, kidney and urological problems, testicle, breast, uterine, vaginal, and ovarian masses.{{cn|date=March 2022}} ==Genetics== There are no known risk factors that have been identified specific to the disease. The tumor appears to arise from the primitive cells of childhood, and is considered a childhood cancer.{{cn|date=March 2022}} Research has indicated that there is a chimeric relationship between DSRCT and [[Wilms' tumor]] and [[Ewing sarcoma]]. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the [[small-cell tumor]]s.{{cn|date=March 2022}} DSRCT is associated with a unique [[chromosomal translocation]] (notated as t(11;22)(p13:q12))<ref name="pmid18703217">{{cite journal |vauthors=Murphy AJ, Bishop K, Pereira C, etal |title=A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity |journal=Hum. Pathol. |volume=39 |issue=12 |pages=1763–70 |date=December 2008 |pmid=18703217 |doi=10.1016/j.humpath.2008.04.019 }}</ref> that merges the ''[[EWSR1]]'' [[FET protein family|FET family gene]] normally located on [[Karyotype#Types of banding|band]] 12 of the [[Locus (genetics)#Nomenclature|long (or "q") arm]] of [[chromosome 22]] with part of the ''[[WT1]]'' [[transcription factor]] gene normally located on band 13 of the short arm of [[chromosome 11]].<ref name="pmid34203801">{{cite journal | vauthors = Flucke U, van Noesel MM, Siozopoulou V, Creytens D, Tops BB, van Gorp JM, Hiemcke-Jiwa LS | title = EWSR1-The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review | journal = Diagnostics (Basel, Switzerland) | volume = 11 | issue = 6 | date = June 2021 | page = 1093 | pmid = 34203801 | pmc = 8232650 | doi = 10.3390/diagnostics11061093 | url = | doi-access = free }}</ref> The resulting ''EWSR1-WT1'' fusion gene is converted to a [[fusion transcript]]<ref name="pmid15826834">{{cite journal |vauthors=Gerald WL, Haber DA |title=The EWS-WT1 gene fusion in desmoplastic small round cell tumor |journal=Semin. Cancer Biol. |volume=15 |issue=3 |pages=197–205 |date=June 2005 |pmid=15826834 |doi=10.1016/j.semcancer.2005.01.005 }}</ref> that directs the formation of an EWSR1-WT1 [[chimeric protein]].<ref name="pmid17964965">{{cite journal |vauthors=Lee YS, Hsiao CH |title=Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical and molecular study of four patients |journal=J. Formos. Med. Assoc. |volume=106 |issue=10 |pages=854–60 |year=2007 |pmid=17964965 |doi=10.1016/S0929-6646(08)60051-0 |doi-access=free }}</ref> The EWSR1-WT1 chimeric protein contains the N-terminal [[transactivation domain]] of [[EWSR1]] and the [[DNA-binding domain]] of [[WT1]]. This translocation is seen in virtually all cases of DSRCT.<ref name="pmid34340159">{{cite journal | vauthors = Martínez-Trufero J, Cruz Jurado J, Hernández-León CN, Correa R, Asencio JM, Bernabeu D, Alvarez R, Hindi N, Mata C, Marquina G, Martínez V, Redondo A, Floría LJ, Gómez-Mateo MC, Lavernia J, Sebio A, Garcia Del Muro X, Martin-Broto J, Valverde-Morales C | title = Uncommon and peculiar soft tissue sarcomas: Multidisciplinary review and practical recommendations. Spanish Group for Sarcoma research (GEIS -GROUP). Part II | journal = Cancer Treatment Reviews | volume = 99 | issue = | pages = 102260 | date = September 2021 | pmid = 34340159 | doi = 10.1016/j.ctrv.2021.102260 | url = }}</ref> The EWS/WT1 translocation product targets [[ENT4]].<ref name="pmid18523561">{{cite journal |vauthors=Li H, Smolen GA, Beers LF, etal |title=Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor |journal=PLOS ONE |volume=3 |issue=6 |pages=e2353 |year=2008 |pmid=18523561 |pmc=2394657 |doi=10.1371/journal.pone.0002353 |bibcode=2008PLoSO...3.2353L |doi-access=free }} {{open access}}</ref> ENT4 is also known as PMAT. ==Pathology== The entity was first described by pathologists William L. Gerald and [[Juan Rosai]] in 1989.<ref>{{cite journal |last1=Gerald |first1=W. L. |last2=Rosai |first2=J. |title=Case 2. Desmoplastic small cell tumor with divergent differentiation |journal=Pediatr. Pathol. |volume=9 |issue=2 |pages=177–83 |year=1989 |pmid=2473463 |doi=10.3109/15513818909022347}}</ref> Pathology reveals well circumscribed solid tumor nodules within a dense desmoplastic [[Stroma (animal tissue)|stroma]]. Often areas of central necrosis are present. Tumor cells have hyperchromatic nuclei with increased nuclear/cytoplasmic ratio.{{citation needed|date=June 2020}} On immunohistochemistry, these cells have trilinear coexpression including the epithelial marker cytokeratin, the mesenchymal markers desmin and vimentin, and the neuronal marker neuron-specific enolase. Thus, although initially thought to be of mesothelial origin due to sites of presentation, it is now hypothesized to arise from a progenitor cell with multiphenotypic differentiation.{{cn|date=March 2022}} ==Diagnosis== ===Differential diagnosis=== Because this is a rare tumor, not many family physicians or 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. In males DSRCT may be mistaken for [[germ cell cancer|germ cell]] or [[testicular cancer]] while in females DSRCT can be mistaken for ovarian cancer. DSRCT shares characteristics with other small-round blue cell cancers including Ewing's sarcoma, acute leukemia, small cell mesothelioma, neuroblastoma, [[primitive neuroectodermal tumor]], [[rhabdomyosarcoma]], and Wilms' tumor.{{cn|date=March 2022}} ==Treatment== DSRCT is frequently [[Misdiagnosis|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.{{cn|date=March 2022}} There is no standard protocol for the disease;<ref>Talarico F, Iusco D, Negri L, Belinelli D: Combined resection and multi-agent adjuvant chemotherapy for intra-abdominal desmoplastic small round cell tumour: case report and review of the literature. G Chir 2007; 28: 367–370.</ref> however, recent journals and studies have reported that some patients respond to high-dose (P6 Protocol) [[chemotherapy]], [[maintenance chemotherapy]], [[debulking operation]], [[cytoreductive surgery]], and [[radiation therapy]]. Other treatment options include: [[hematopoietic stem cell transplantation]], intensity-modulated radiation therapy, [[radiofrequency ablation]], stereotactic body radiation therapy, [[intraperitoneal hyperthermic chemoperfusion]], and [[clinical trial]]s. ==Prognosis== The prognosis for DSRCT remains poor.<ref>{{cite journal |vauthors=Lal DR, Su WT, Wolden SL, Loh KC, Modak S, La Quaglia MP |title=Results of multimodal treatment for desmoplastic small round cell tumors |journal=J. Pediatr. Surg. |volume=40 |issue=1 |pages=251–5 |date=January 2005 |pmid=15868593 |doi=10.1016/j.jpedsurg.2004.09.046 }}</ref> 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 [[metastasis|metastasize]] or seed to other parts of the body. There is no known organ or area of origin. DSRCT can metastasize through lymph nodes or the blood stream. Sites of metastasis include the spleen, diaphragm, liver, large and small intestine, lungs, central nervous system, bones, uterus, bladder, genitals, abdominal cavity, and the brain. A multi-modality approach of high-dose chemotherapy, aggressive surgical resection,<ref name="pmid17915050">{{cite journal |vauthors=Talarico F, Iusco D, Negri L, Belinelli D |title=Combined resection and multi-agent adjuvant chemotherapy for intra-abdominal desmoplastic small round cell tumour: case report and review of the literature |journal=G Chir |volume=28 |issue=10 |pages=367–70 |date=October 2007 |pmid=17915050 |url=http://www.giornalechirurgia.it/index.php?PAGE=article&ID=2393}}</ref> radiation, and stem cell rescue improves survival for some patients. Reports have indicated that patients will initially respond to first line chemotherapy and treatment but that relapse is common. Some patients in remission or with inoperable tumor seem to benefit from long term low dose chemotherapy, turning DSRCT into a chronic disease. ==Research== {{Globalize|section|date=July 2016}} The Stehlin Foundation<ref>{{Cite web |url=http://www.stehlin.org/ |title=Official website for Stehlin Foundation |access-date=2006-10-08 |archive-date=2021-04-12 |archive-url=https://web.archive.org/web/20210412065938/http://stehlin.org/ |url-status=dead }}</ref> currently offers DSRCT patients the opportunity to send samples of their tumors free of charge for testing. Research scientists are growing the samples on nude mice and testing various chemical agents to find which are most effective against the individual's tumor. Patients with advanced DSRCT may qualify to participate in [[clinical trials]] that are researching new drugs to treat the disease. The [https://www.corymonzingofoundation.org/ Cory Monzingo Foundation] is a [[501(c)(3) organization]] that supports the research for treatments and a cure for DSRCT. The Cory Monzingo Foundation provides funding to MD Anderson Cancer Center and may also provide funding to other nonprofit cancer research organizations. In 2002, Nishio and al,<ref>{{Cite journal|last1=Nishio|first1=Jun|last2=Iwasaki|first2=Hiroshi|last3=Ishiguro|first3=Masako|last4=Ohjimi|first4=Yuko|last5=Fujita|first5=Chikako|last6=Yanai|first6=Fumio|last7=Nibu|first7=Keiko|last8=Mitsudome|first8=Akihisa|last9=Kaneko|first9=Yasuhiko|date=September 2002|title=Establishment and characterization of a novel human desmoplastic small round cell tumor cell line, JN-DSRCT-1|journal=Laboratory Investigation; A Journal of Technical Methods and Pathology|volume=82|issue=9|pages=1175–1182|issn=0023-6837|pmid=12218078|doi=10.1097/01.LAB.0000028059.92642.03|doi-access=free}}</ref> established a novel human tumor cell line derived from the pleural effusion of a patient with a typical intra-abdominal DSRCT, called JN-DSRCT-1<ref>{{Cite web|url=https://www.wikidata.org/wiki/Q54899015|title=Jn-Dsrct-1}}</ref> that can now be used in research. St. Jude Children’s Research Hospital has, in 2018, make available resources from the Childhood Solid Tumor Network, that upon request gives access to patient-derived orthotopic xenografts.<ref>{{Cite web|url=https://www.stjude.org/research/resources-data/childhood-solid-tumor-network/available-resources.html|title=St Jude Children's Research Hospital}}</ref> ==Alternative names== This disease is also known as: [[desmoplastic]] small round blue cell tumor; intra-abdominal desmoplastic small round blue cell tumor; desmoplastic small cell tumor; desmoplastic cancer; desmoplastic sarcoma; DSRCT. There is no connection to [[peritoneal mesothelioma]] which is another disease sometimes described as desmoplastic. == See also == * [[Desmoplasia]] * [[Kate Granger]] (1981–2016), an English physician, whose diagnosis with DSRCT led to her campaigning for better patient care, and fund-raising for cancer research. ==References== {{Reflist}} == External links == {{Medical resources | ICD10 = C48.2 | ICD9 = | ICDO = 8806/3 | MeshID = D058405 | Orphanet = 83469 | SNOMED CT = 128735004 }} {{Soft tissue tumors and sarcomas}} {{Chromosomal abnormalities}} {{Digestive system neoplasia}} {{DEFAULTSORT:Desmoplastic Small Round Cell Tumor}} [[Category:Hepatology]] [[Category:Small-blue-round-cell tumors]] [[Category:Rare cancers]] [[Category:Sarcoma]] </textarea><div class="templatesUsed"><div class="mw-templatesUsedExplanation"><p><span id="templatesused">Pages transcluded onto the current version of this page<span class="posteditwindowhelplinks"> (<a href="/wiki/Help:Transclusion" 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