Desmoplastic Small Round Cell Tumor

2019 ◽  
Author(s):  
James A Saltsman III ◽  
Todd E Heaton
Keyword(s):  
Abdominal Cavity ◽  
Local Therapy ◽  
Residual Tumor ◽  
Cell Tumor ◽  
Clinical Approach ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Consensus Statements

Desmoplastic small round cell tumor (DSRCT) is a relatively recently identified, rare, aggressive cancer that arises from the peritoneal lining of the abdominal cavity and predominantly affects male adolescents and young adults. DSRCT is included in the Ewing family of tumors and harbors a unique translocation between EWSR and WT1 genes. Patients characteristically present with advanced disease, including widespread involvement of the abdominal cavity and pelvis, with frequent extraperitoneal metastases involving liver, spleen, and thoracic lymph nodes. Five-year overall survival remains approximately 15 to 20% in recent series despite aggressive multimodal therapy. Neoadjuvant chemotherapy, complete resection, defined as less than 1 cm3 of residual tumor, and consolidative whole abdominopelvic radiotherapy (WAP-RT) appear to play important role in curative treatment. The rarity of DSRCT makes large randomized trials difficult and consensus statements about clinical approach impossible. However, this chapter summarizes the best available data on the pathogenesis, diagnosis, and treatment of DSRCT; highlights the major advances made in these areas; and discusses the addition of local therapy to the treatment paradigm. This review contains 3 figures, 1 table, and 51 references.   Key Words: DSRCT, peritoneal malignancy, desmoplastic round cell tumor, surface malignancies of the peritoneum, desmoplastic small round cell tumor of the abdomen, surgical oncology, rare malignancies, surgical therapy of abdominal malignancies

Desmoplastic Small Round Cell Tumor

2019 ◽  
Author(s):  
James A Saltsman III ◽  
Todd E Heaton
Keyword(s):  
Abdominal Cavity ◽  
Local Therapy ◽  
Residual Tumor ◽  
Cell Tumor ◽  
Clinical Approach ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Consensus Statements

Desmoplastic small round cell tumor (DSRCT) is a relatively recently identified, rare, aggressive cancer that arises from the peritoneal lining of the abdominal cavity and predominantly affects male adolescents and young adults. DSRCT is included in the Ewing family of tumors and harbors a unique translocation between EWSR and WT1 genes. Patients characteristically present with advanced disease, including widespread involvement of the abdominal cavity and pelvis, with frequent extraperitoneal metastases involving liver, spleen, and thoracic lymph nodes. Five-year overall survival remains approximately 15 to 20% in recent series despite aggressive multimodal therapy. Neoadjuvant chemotherapy, complete resection, defined as less than 1 cm3 of residual tumor, and consolidative whole abdominopelvic radiotherapy (WAP-RT) appear to play important role in curative treatment. The rarity of DSRCT makes large randomized trials difficult and consensus statements about clinical approach impossible. However, this chapter summarizes the best available data on the pathogenesis, diagnosis, and treatment of DSRCT; highlights the major advances made in these areas; and discusses the addition of local therapy to the treatment paradigm. This review contains 3 figures, 1 table, and 51 references.   Key Words: DSRCT, peritoneal malignancy, desmoplastic round cell tumor, surface malignancies of the peritoneum, desmoplastic small round cell tumor of the abdomen, surgical oncology, rare malignancies, surgical therapy of abdominal malignancies

Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.

1998 ◽  
Vol 16 (9) ◽  
pp. 3028-3036 ◽  
Author(s):  
W L Gerald ◽  
M Ladanyi ◽  
E de Alava ◽  
M Cuatrecasas ◽  
B H Kushner ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Abdominal Cavity ◽  
Neuron Specific Enolase ◽  
Chimeric Protein ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Translocation Breakpoints

PURPOSE Intense investigation has reshaped concepts about undifferentiated tumors occurring in young people (small round-cell tumors). Tumors associated with t(11;22)(p13;q12) and descriptively designated desmoplastic small round-cell tumor (DSRCT) are a distinctive, rare, poorly understood member of this family. We reviewed 109 cases of DSRCT to further characterize this entity better. METHODS Clinical information and histology were reviewed. Immunohistochemistry and immunoblotting were performed using standard techniques. Chimeric EWS-WT1 RNA and DNA were detected by polymerase chain reaction (PCR) and genomic translocation breakpoints mapped in a subset of cases. RESULTS There were 90 males and 19 females from 6 to 49 years of age (mean, 22 years). A total of 103 had tumor in the abdominal cavity, four in the thoracic region, one in the posterior cranial fossa, and one in the hand. Typical histologic and immunohistochemical features were usually evident in well-sampled tumors, but variations in cellularity, stromal components, cytology, architecture, and immunoreactivity occurred. Tumor cells were usually reactive with antibodies to keratin (67 of 78 cases, 86%), epithelial membrane antigen (50 of 54, 93%), vimentin (64 of 66, 97%), desmin (70 of 78, 90%), neuron-specific enolase (60 of 74, 81%), and the EWS-WT1 chimeric protein (25 of 27, 93%); typically nonreactive for muscle common actin (one of 58, 2%), myogenin (zero of eight, 0%), and chromogranin (one of 46, 2%); and variably reactive for MIC2 (nine of 47, 20%) and p53 (five of 17 with > 20% tumor cells reactive). Functional EWS-WT1 gene fusion was evident in 25 of 26 cases with genomic breakpoints in WT1 intron 7, and EWS introns 7, 8, and 9. Prognosis in general is poor, but tumors are responsive to aggressive therapy. CONCLUSION This large review identifies a greater degree of clinical, pathologic, and molecular variation than originally appreciated for tumors associated with t(11;22)(p13;q12). Translocation and functional fusion of the EWS and WT1 genes appears to be a consistent feature of this unique tumor.

Desmoplastic Small Round Cell Tumor: A Rare but Aggressive Tumor in Young Women

2016 ◽  
Vol 8 (3) ◽  
pp. 239-242
Author(s):  
K Harish ◽  
G Nandini ◽  
K Padma ◽  
ACV Swamy ◽  
Murali Subramanian
Keyword(s):  
Young Women ◽  
Abdominal Cavity ◽  
Malignant Neoplasm ◽  
Cell Tumor ◽  
Round Cell ◽  
Female Ratio ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Aggressive Tumor

ABSTRACT Desmoplastic small round cell tumor (DSRCT) is a rare malignant neoplasm. It is primarily found in young men, with a reported male to female ratio of 4:1. The tumor typically develops in the abdominal cavity, invading the omentum with multiple peritoneal implants involving the diaphragm, splenic hilum, mesentery of the small and large bowel, and the pelvic peritoneum. Most of them have widespread disease at presentation, with an organ of origin difficult to ascertain. We report a case of desmoplastic round cell tumor in a 17-year-old teenage girl. Immunohistochemistry helped in the diagnosis. She received multimodality treatment. How to cite this article Nandini G, Harish K, Swamy ACV, Subramanian M, Padma K. Desmoplastic Small Round Cell Tumor: A Rare but Aggressive Tumor in Young Women. J South Asian Feder Obst Gynae 2016;8(3):239-242.

scholarly journals Desmoplastic small round cell tumor: review of therapy including surgery followed by continuous hyperthermic peritoneal perfusion of chemotherapy

2011 ◽  
Vol 3 (3) ◽  
pp. 195
Author(s):  
Andrea Hayes-Jordan ◽  
Peter Anderson
Keyword(s):  
Residual Disease ◽  
Fusion Gene ◽  
Abdominal Cavity ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Peritoneal Perfusion ◽  
Microscopic Residual Disease

Desmoplastic small round cell tumor (DSRCT) is a very rare disease of children, adolescents, and young adults and involves the abdominal cavity. DSRCT has characteristic fusion gene involving EWS1 and WT1 translocation, t(11;22)(p13;q12). Unlike Ewing’s sarcoma of bone, DSRCT usually presents with diffuse peritoneal implants that are prone to recur. The primary organ of origin of DSRCT is mesenchyme of the peritoneum. This makes it a very unique tumor that is difficult to treat because of the infiltrative and diffuse nature of the peritoneum. The challenge of local control is to remove dozens to hundreds of tumors studding the peritoneal cavity, and then eliminate microscopic disease. We review a sequential multimodality strategy to reduce macroscopic and microscopic disease including neoadjuvant chemotherapy, aggressive surgery including an emerging new therapy to use after surgery to treat microscopic residual disease: continuous hyperthermic peritoneal chemotherapy,

scholarly journals Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

2020 ◽  
Author(s):  
Celso Abdon Mello ◽  
Fernando Augusto Batista Campos ◽  
Tiago Goss Santos ◽  
Maria Leticia Gobo Silva ◽  
Giovana Tardin Torrezan ◽  
...  
Keyword(s):  
Kinase Inhibitors ◽  
Abdominal Cavity ◽  
Cell Tumor ◽  
New Drugs ◽  
Round Cell ◽  
Male Predominance ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Molecular Abnormalities ◽  
Small Round Cell

Desmoplastic small round cell tumor (DSRCT) is an extremely rare, aggressive sarcoma affecting adolescents and young adults with male predominance. Generally, it originates from serosal surface of abdominal cavity. The hallmark characteristic of DSRCT is the EWSR1-WT1 gene fusion. This translocation up-regulates the expression of PDGFRα, VEGF and other proteins related to tumor and vascular cell proliferation. Current management of DSRCT includes a combination of chemotherapy, radiation and aggressive cytoreductive surgery plus intra-peritoneal hyperthermic chemotherapy (HIPEC). Despite advances in multimodal therapy, outcomes remain poor since the majority of patients present disease recurrence and die within 3 years. The dismal survival makes DSRCT an orphan disease with urgent need of new drugs. The treatment of advanced and recurrent disease with tyrosine kinase inhibitors, such as pazopanib, sunitinib, and mTOR inhibitors have been evaluated in small studies. Recent works using comprehensive molecular profiling of DSRCT identified potential therapeutic targets. In this review, we aim to describe the current studies conducted to better understand DSRCT biology and to explore the new therapeutic strategies under investigation in preclinical models and in early phase clinical trials.

scholarly journals Desmoplastic Small Round Cell Tumor: Current Management and Recent Findings

Sarcoma ◽  
2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Armelle Dufresne ◽  
Philippe Cassier ◽  
Laure Couraud ◽  
Perrine Marec-Bérard ◽  
Pierre Meeus ◽  
...  
Keyword(s):  
Abdominal Cavity ◽  
Hepatic Metastases ◽  
Chromosomal Translocation ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Desmoplastic Stroma ◽  
Liver Embolization

Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Patients typically present with symptoms of abdominal sarcomatosis. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. DSRCT is associated with a unique chromosomal translocation t(11:22) (p 13; q 12) that involves theEWSR1andWT1genes. The prognosis is particularly poor; median survival ranges from 17 to 25 months, largely due to the presentation of the majority of patients with metastatic disease. Management of DSRCT remains challenging and current schemes lack a significant cure rate despite the use of aggressive treatments such as polychemotherapy, debulking surgery and whole abdominal radiation. Several methods are being evaluated to improve survival: addition of chemotherapy and targeted therapies to standard neoadjuvant protocol, completion of surgical resection with HIPEC, postoperative IMRT, treatment of hepatic metastases with [90Y]Yttrium microsphere liver embolization.

scholarly journals Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 498
Author(s):  
Celso Abdon Mello ◽  
Fernando Augusto Batista Campos ◽  
Tiago Goss Santos ◽  
Maria Leticia Gobo Silva ◽  
Giovana Tardin Torrezan ◽  
...  
Keyword(s):  
Kinase Inhibitors ◽  
Abdominal Cavity ◽  
Cell Tumor ◽  
New Drugs ◽  
Round Cell ◽  
Male Predominance ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Molecular Abnormalities ◽  
Small Round Cell

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 PDGFRα, VEGF and other proteins related to tumor and vascular cell proliferation. Current management of DSRCT includes a combination of chemotherapy, radiation and aggressive cytoreductive surgery plus intra-peritoneal hyperthermic chemotherapy (HIPEC). Despite advances in multimodal therapy, outcomes remain poor since the majority of patients present disease recurrence and die within three years. The dismal survival makes DSRCT an orphan disease with an urgent need for new drugs. The treatment of advanced and recurrent disease with tyrosine kinase inhibitors, such as pazopanib, sunitinib, and mTOR inhibitors was evaluated by small trials. Recent studies using comprehensive molecular profiling of DSRCT identified potential therapeutic targets. In this review, we aim to describe the current studies conducted to better understand DSRCT biology and to explore the new therapeutic strategies under investigation in preclinical models and in early phase clinical trials.

Bone Marrow Metastasis of Desmoplastic Small round Cell Tumor

2007 ◽  
Vol 93 (5) ◽  
pp. 511-513 ◽  
Author(s):  
Jing Deng ◽  
Nong Xu ◽  
Peng Shen ◽  
Zhaoming Wang ◽  
Xiaochen Zhang ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Lung Metastases ◽  
Abdominal Cavity ◽  
Cell Tumor ◽  
Pelvic Cavity ◽  
Round Cell ◽  
Bone Marrow Metastasis ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

Desmoplastic small round cell tumor is an extremely rare and highly aggressive neoplasm. It usually arises as a single mass or multiple masses in the abdominal cavity, characterized by diffuse peritoneal implants, involvement of regional lymph nodes, and liver and lung metastases. However, bone marrow metastasis has rarely been reported in the literature. We present a case of clinically symptomatic bone marrow metastasis in a 25-year-old woman with a diagnosis of desmoplastic small round cell tumor originating from the pelvic cavity.

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