同: desmoplastic small round cell tumor

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/29 08:53:17」(JST)

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Display of small round blue cells characteristic of desmoplastic small-round-cell tumor.

Cell exhibiting blue oval and round shapes of desmoplastic small-round blue cell tumor

Desmoplastic small-round-cell tumor is classified as a soft tissue sarcoma. It is an aggressive and rare tumor that primarily occurs as masses in the abdomen.^[1] Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metatastic spread include the liver, lungs, lymph nodes, brain, skull, and bones.

The tumor is considered a childhood cancer that predominantly strikes boys and young adults.

The disease rarely occurs in females, but when it does the tumors can be mistaken for ovarian cancer.^[2]

In dogs, mast cell tumors are the most frequent round cell tumor.^[3]

Causes

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.

Research has indicated that there is a chimeric relationship between desmoplastic small-round-cell tumor (DSRCT) and Wilms' tumor and Ewing's sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small cell tumors.

DSRCT is associated with a unique chromosomal translocation (t11;22)(p13:q12)^[4] resulting in an EWS/WT1 transcript^[5] that is diagnostic of this tumor.^[1] This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth.

The EWS/WT1 translocation product targets ENT4.^[6] ENT4 is also known as PMAT.

Symptoms

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 family 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.

First symptoms of the disease often include abdominal distention, abdominal mass, abdominal or back pain, gastrointestinal obstruction, lack of appetite, ascites, anemia, and/or cachexia.

Other reported symptoms include unknown lumps, thyroid conditions, hormonal conditions, blood clotting, kidney or urological problems, testicle, breast, uterine, vaginal, or ovarian masses

Differential Diagnoses

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 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.

Pathology

The entity was first described by pathologists William L. Gerald and Juan Rosai in 1989.^[7] Pathology reveals well circumscribed solid tumor nodules within a dense desmoplastic stroma. Often areas of central necrosis are present. Tumor cells have hyperchromatic nuclei with increased nuclear/cytoplasmic ratio.

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.

Treatment

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.

There is no standard protocol for the disease;^[8] 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 trials.

Prognosis

The prognosis for DSRCT remains poor.^[9] The 5-year survival rate of DRSCT is only approximately 15%.^[10] 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.

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,^[8] 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

The Stehlin Foundation^[11] 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.

Alternative names

This disease is also known as: desmoplastic small round blue cell tumor; intraabdominal 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.

References

^ ^a ^b Lee YS, Hsiao CH (October 2007). "Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical and molecular study of four patients". J. Formos. Med. Assoc. 106 (10): 854–60. doi:10.1016/S0929-6646(08)60051-0. PMID 17964965.
^ Bland AE, Shah AA, Piscitelli JT, Bentley RC, Secord AA (2007). "Desmoplastic small round cell tumor masquerading as advanced ovarian cancer". Int J Gynecol Cancer 18 (4): 847. doi:10.1111/j.1525-1438.2007.01110.x. PMID 18081791.
^ Mackowiak II et al (2012) E-cadherin in canine mast cell tumors: Decreased expression and altered subcellular localization in Grade 3 tumors. Vet J 194(3):405-11
^ Murphy AJ, Bishop K, Pereira C, et al. (December 2008). "A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity". Hum. Pathol. 39 (12): 1763–70. doi:10.1016/j.humpath.2008.04.019. PMID 18703217.
^ Gerald WL, Haber DA (June 2005). "The EWS-WT1 gene fusion in desmoplastic small round cell tumor". Semin. Cancer Biol. 15 (3): 197–205. doi:10.1016/j.semcancer.2005.01.005. PMID 15826834.
^ Li H, Smolen GA, Beers LF, et al. (2008). "Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor". PLoS ONE 3 (6): e2353. doi:10.1371/journal.pone.0002353. PMC 2394657. PMID 18523561.
^ Gerald WL, Rosai J (1989). "Case 2. Desmoplastic small cell tumor with divergent differentiation". Pediatr Pathol 9 (2): 177–83. doi:10.3109/15513818909022347. PMID 2473463.
^ ^a ^b Talarico F, Iusco D, Negri L, Belinelli D (2007). "Combined resection and multi-agent adjuvant chemotherapy for intra-abdominal desmoplastic small round cell tumour: case report and review of the literature". G Chir 28 (10): 367–70. PMID 17915050.
^ Aguilera D, Hayes-Jordan A, Anderson P, Woo S, Pearson M, Green H (2008). "Outpatient and home chemotherapy with novel local control strategies in DSRCT". Sarcoma 2008: 261589. doi:10.1155/2008/261589. PMC 2430011. PMID 18566684.
^ Lal DR, Su WT, Wolden SL, Loh KC, Modak S, La Quaglia MP (January 2005). "Results of multimodal treatment for desmoplastic small round cell tumors". J. Pediatr. Surg. 40 (1): 251–5. doi:10.1016/j.jpedsurg.2004.09.046. PMID 15868593.
^ Official website for Stehlin Foundation

External links

humpath #2002 (Pathology images)
Desmoplastic Small Round Cell Tumor in the Sarcoma Learning Center
Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Blue Cell Tumor

UpToDate Contents

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1. 軟部組織肉腫の臨床所見、病理組織学的検査、診断的評価、および病期分類 clinical presentation histopathology diagnostic evaluation and staging of soft tissue sarcoma
2. 軟部および骨肉腫の病原因子 pathogenetic factors in soft tissue and bone sarcomas
3. 転移性軟部組織肉腫の全身治療 systemic treatment of metastatic soft tissue sarcoma
4. ユーイング肉腫ファミリーの腫瘍の疫学、病理、および分子遺伝学 epidemiology pathology and molecular genetics of the ewing sarcoma family of tumors
5. 精巣腫瘍の解剖学および病理 anatomy and pathology of testicular tumors

English Journal

Complete Cytoreduction and HIPEC Improves Survival in Desmoplastic Small Round Cell Tumor.

Hayes-Jordan A, Green HL, Lin H, Owusu-Agyemang P, Fitzgerald N, Arunkumar R, Mejia R, Okhuysen-Cawley R, Mauricio R, Fournier K, Ludwig J, Anderson P.Author information Department of Surgical Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX, USA, ahjordan@mdanderson.org.AbstractBACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare tumor of adolescents and young adults. Less than 100 cases per year are reported in North America. Extensive peritoneal metastases are characteristic of this disease. We performed cytoreductive surgery and hyperthermic peritoneal perfusion with chemotherapy (HIPEC) using cisplatin (CDDP) for DSRCT.
Annals of surgical oncology.Ann Surg Oncol.2014 Jan;21(1):220-4. doi: 10.1245/s10434-013-3269-y. Epub 2013 Sep 18.
BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare tumor of adolescents and young adults. Less than 100 cases per year are reported in North America. Extensive peritoneal metastases are characteristic of this disease. We performed cytoreductive surgery and hyperthermic peritoneal perf
PMID 24046124

The oncogenic properties of EWS/WT1 of desmoplastic small round cell tumors are unmasked by loss of p53 in murine embryonic fibroblasts.

Bandopadhayay P, Jabbour AM, Riffkin C, Salmanidis M, Gordon L, Popovski D, Rigby L, Ashley DM, Watkins DN, Thomas DM, Algar E, Ekert PG.Author information University of Melbourne, Royal Parade, Parkville, Melbourne, Victoria 3052, Australia. Ekert@wehi.edu.au.AbstractBACKGROUND: Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11;22) (p13;q12) translocation. Here we examine the oncogenic properties of two splice variants of EWS/WT1, EWS/WT1-KTS and EWS/WT1 + KTS.
BMC cancer.BMC Cancer.2013 Dec 9;13(1):585. doi: 10.1186/1471-2407-13-585.
BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11;22) (p13;q12) translocation. Here we examine the oncogenic properties of two splice variants of EWS/WT1, EWS/WT1-KTS and EWS/WT1 + KTS.METHODS: We over-exp
PMID 24321497

Sinonasal desmoplastic small round cell tumor.

López F, Costales M, Vivanco B, Fresno MF, Suárez C, Llorente JL.Author information Department of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, Spain. flopez_1981@yahoo.esAbstractDesmoplastic small round cell tumor (DSRCT) is a rare malignancy with poor prognosis that generally involves the peritoneum. Only rare cases occur outside the abdomen. Its diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. We describe a case of a 61-year-old man referred to our department with a primary sinonasal tumor. The DSRCT diagnosis was confirmed by the presence of a polyphenotypic immunoprofile (positive for cytokeratin, desmin, and neuronspecific enolase) and the characteristic EWS-WT1 gene fusion resulting from the t(11;22)(p13;q12) reciprocal translocation. This reported case of DSRCT draws attention to the importance of including DSRCT in the differential diagnosis of sinonasal tumors.
Auris, nasus, larynx.Auris Nasus Larynx.2013 Dec;40(6):573-6. doi: 10.1016/j.anl.2012.12.006. Epub 2013 Feb 16.
Desmoplastic small round cell tumor (DSRCT) is a rare malignancy with poor prognosis that generally involves the peritoneum. Only rare cases occur outside the abdomen. Its diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. We describe a case of a 61-year-old man referred
PMID 23422233

Japanese Journal

P15-05 desmoplastic small round cell tumor (DSRCT)に対する温熱化学療法を併用したcytoreductive surgery(ポスターセッション15 腫瘍2)

北河徳彦,大浜用克,新開真人,武浩志,薄井佳子,小坂太一郎,湊雅嗣,大澤絵都子,浜之上聡,気賀澤寿人,田中水緒,田中祐吉
日本小児外科学会雑誌 48(3), 558, 2012-05-01
NAID 110009582134

腹腔内desmoplastic small round cell tumorの1例

熊谷洋一,飯田道夫,東海林裕,落合高徳,山崎繁,小田島肇,猪狩亨
日本消化器外科学会雑誌 42(6), 702-707, 2009-06-01
… 状態で腹腔内に多発腫瘍を認めた.切除検体の免疫染色検査の結果,desmoplastic small round cell tumor(以下,DSRCT)と診断された.P6 regimenにのっとり化学療法を5コース施行.2コース終了後には肝転移巣,腹部腫瘍とも縮小を認め,腫瘍マーカーの低下を認めた.その後,次第に腫瘍は増大し診断より7か月で原病死した.DSRCTは本邦ではまれであるが若年者の腹部腫瘍の鑑別診断として本疾患も念頭におく必要があると考 …
NAID 110007226792

非典型的な組織像を呈した線維形成性小円形細胞性腫瘍の1例

石川典由,原田祐治,中本周,伏見聡一郎,並河徹,丸山理留敬
診断病理 : Japanese journal of diagnostic pathology 25(3), 236-240, 2008-07-30
NAID 10021930449

Related Pictures

File:Desmin.DSRCT.desmoplastic small round DSRCT Awareness ribbons~ | Made by Me small round cell tumor (DSRCT $Box\case 47.MT.DSRCT thumbnails list view$ DSRCT – Sarcoma Research | CHRISTUS

★リンクテーブル★

「DSR」

Desmoplastic small-round-cell tumor
	Classification and external resources
	Micrograph of a desmoplastic small round cell tumor, showing the characteristic desmoplastic stroma and angulated nests of small round cells. H&E stain.
ICD-O:	8806/3

　　[★]

[pmid17964965-1] Lee YS, Hsiao CH (October 2007). "Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical and molecular study of four patients". J. Formos. Med. Assoc. 106 (10): 854–60. doi:10.1016/S0929-6646(08)60051-0. PMID 17964965.

[pmid18081791-2] Bland AE, Shah AA, Piscitelli JT, Bentley RC, Secord AA (2007). "Desmoplastic small round cell tumor masquerading as advanced ovarian cancer". Int J Gynecol Cancer 18 (4): 847. doi:10.1111/j.1525-1438.2007.01110.x. PMID 18081791.

[3] Mackowiak II et al (2012) E-cadherin in canine mast cell tumors: Decreased expression and altered subcellular localization in Grade 3 tumors. Vet J 194(3):405-11

[pmid18703217-4] Murphy AJ, Bishop K, Pereira C, et al. (December 2008). "A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity". Hum. Pathol. 39 (12): 1763–70. doi:10.1016/j.humpath.2008.04.019. PMID 18703217.

[pmid15826834-5] Gerald WL, Haber DA (June 2005). "The EWS-WT1 gene fusion in desmoplastic small round cell tumor". Semin. Cancer Biol. 15 (3): 197–205. doi:10.1016/j.semcancer.2005.01.005. PMID 15826834.

[pmid18523561-6] Li H, Smolen GA, Beers LF, et al. (2008). "Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor". PLoS ONE 3 (6): e2353. doi:10.1371/journal.pone.0002353. PMC 2394657. PMID 18523561.

[7] Gerald WL, Rosai J (1989). "Case 2. Desmoplastic small cell tumor with divergent differentiation". Pediatr Pathol 9 (2): 177–83. doi:10.3109/15513818909022347. PMID 2473463.

[pmid17915050-8] Talarico F, Iusco D, Negri L, Belinelli D (2007). "Combined resection and multi-agent adjuvant chemotherapy for intra-abdominal desmoplastic small round cell tumour: case report and review of the literature". G Chir 28 (10): 367–70. PMID 17915050.

[pmid18566684-9] Aguilera D, Hayes-Jordan A, Anderson P, Woo S, Pearson M, Green H (2008). "Outpatient and home chemotherapy with novel local control strategies in DSRCT". Sarcoma 2008: 261589. doi:10.1155/2008/261589. PMC 2430011. PMID 18566684.

[10] Lal DR, Su WT, Wolden SL, Loh KC, Modak S, La Quaglia MP (January 2005). "Results of multimodal treatment for desmoplastic small round cell tumors". J. Pediatr. Surg. 40 (1): 251–5. doi:10.1016/j.jpedsurg.2004.09.046. PMID 15868593.

[11] Official website for Stehlin Foundation

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DSRCT