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About DSRCT

DSRCT and Ewing’s Sarcoma are related cancers. They are both classified as rare and aggressive sarcoma and childhood cancers. DSRCT is a violent and rare soft tissue tumor that mostly occurs as multiple masses in the abdomen. 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.The term “childhood cancer” is not an indication of the average patient’s age but, instead the cells that are affected by the cancer. DSRCT cancer cells are related to the primitive cells associated with children.  We are born with the cells and they remain in the body (depending on your own unique biology) up to the age of 40, and in some age of 60 years. So while DSRCT is considered a childhood cancer it is not in reference to a patient’s real age at diagnosis but,  to the primitive cells associated with children. In the case of DSRCT it is the small round blue cells that are considered primitive; therefore it is far more likely for children to get this disease than it is for adults.

There are no known risk factors that have been identified specific to the cancer. The tumors appear to arise from the primitive cells of childhood, and are therefore considered a childhood cancer that predominantly strikes in adolescent boys and younger adults. The disease rarely occurs in females, but when it does the tumors can be mistaken for ovarian cancer.

Research has indicated that there is a chimeric relationship between desmoplastic small round cell tumor and Wilm’s tumor and Ewing’s sarcoma.

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

The Stehlin Foundation 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 desmoplastic small round cell tumor may qualify to participate in clinical trials that are researching new drugs to treat the disease. Because of the similarities with Ewing’s sarcoma patients with desmoplastic small round cell tumor are often eligible for the same clinical trials.

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 mesothelioma which is another disease sometimes described as desmoplastic.

Symptoms

There are few early warning signs that a patient has a desmoplastic small round cell tumor. 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.

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. In females DSRCT can be mistaken for Ovarian cancer. Desmoplastic small round cell tumor shares characteristics with other small round cell cancers including Ewing’s sarcoma, acute leukemia, small cell mesothelioma, neuroblastoma, primitive neuroectodermal tumor, rhabdomyosarcoma, and Wilm’s tumor.
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 and Support

 
Join the DSRCT chat group for emotional support and exchange of helpful information. Under the guidance of Patty Robertson you will find focussed discussions and people just like you who are sharing their experiences and advise.
The Yahoo DSRCT chat group and database have a wealth of information that is regularly updated by the moderator; Patty Robertson. Follow the links below to get to the latest information.

Chat Group : http://health.groups.yahoo.com/group/DSRCT/

List of DSRCT Patients ( also see our Heroes page ) : http://health.groups.yahoo.com/group/DSRCT/database?method=reportRows&tbl=4

In Memory : http://health.groups.yahoo.com/group/DSRCT/database?method=reportRows&tbl=5

Information about Clinical Trials : http://health.groups.yahoo.com/group/DSRCT/links/Clinical_Trials_001182707145/

Treatment Information : http://health.groups.yahoo.com/group/DSRCT/links/DSRCT_Treatment_Information_001216165975/

DSRCT Primary & Metastatic Locations : http://health.groups.yahoo.com/group/DSRCT/links/DSRCT_Primary___Metastatic_Locations_001289357736/

Financial Assistance : http://www.gifttocure.org/funding-applications/     and

 http://health.groups.yahoo.com/group/DSRCT/links/Financial_Assistance_001215479835/

About Ewing’s Sarcoma Family of Tumors – ESFT

Ewing’s sarcoma is a malignant (cancerous) bone tumor that occurs most often in children and young adults.
ESFT is a group of tumors that form from a certain kind of cell in bone or soft tissue.
Tumors in the Ewing’s family of sarcomas are made of primitive cells, which are cells that haven’t yet decided what type of cell they are. They look blue to a pathologist because of the staining that is used when identifying the cancer, so the cells are referred to as “small round blue cells.” The Ewing’s family of sarcomas includes:

* Ewing’s sarcoma of the bone
* Extraosseus Ewing’s sarcoma, also referred to as extraskeletal Ewing’s sarcoma
(tumor growing outside of the bone)
* Primitive neuroectodermal tumor (PNET)
* Peripheral neuroepithelioma
* Askin’s tumor (Ewing’s sarcoma of the chest wall)
* Atypical Ewing’s sarcoma

Causes

EFST can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. It is 10 times as common in Caucasian children as in African-American, African, and Asian children.
The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk.
The tumor often spreads (metastasis) to the lungs and other bones. Metastasis at the time of diagnosis is present in approximately one-third of children with Ewing’s sarcoma. Rarely, Ewing’s sarcoma can occur in adults.
Since the time of his description, many theories have evolved regarding how Ewing sarcomas arise. While the origin of these tumors is still not definitively known, the two theories with the most support suggest that these tumors arise from a primitive cell derived either from an embryologic tissue called the neural crest, or from resident cells in the body (called mesenchymal stem cells) that have a capability to become one of a variety of tissue types. Pathologists have long known that Ewing sarcoma looks very similar to an even rarer soft tissue tumor called primitive neuroectodermal tumor (PNET). By the early 1980’s, ES and PNET were found to not only have similar features when examined under a microscope, but in greater than 95% of cases they also had an identical genetic abnormality called a translocation (Aurias 1984, Whang-Peng 1984, Burchill 2003). Subsequently, these two tumors have been grouped into a class of cancers entitled Ewing’s Sarcoma Family of Tumor (ESFT), all of which demonstrate this translocation.
A translocation involves the mechanical breakage and reconnection between different chromosomes (Obata 1999). Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. Humans have a duplicate set of 23 chromosomes (or a total of 46 chromosomes) in any given cell that carries all of the human genes. Drs. Gabriela Mercado and Frederic Barr of the University of Pennsylvania present an excellent discussion of chromosomal translocations in sarcomas elsewhere on this site.

In ESFT, the translocation is between chromosomes 11 and 22 and is referred to as t(11;22). The gene from chromosome 22 encodes the Ewing sarcoma gene (EWS) whose function is not well-understood (Delattre 1992, May 1993). The gene from chromosome 11, termed FLI1, is involved in turning other genes on and off. This new fused gene, called EWS/FLI, encodes an altered fusion protein that regulates other genes that can give rise to cancers when inappropriately expressed. Dr. Stephen Lessnick of the Huntsman Cancer Institute provides a more detailed discussion of the Ewing fusion protein in a separate ESUN article.

Symptoms

There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor.
Children may also break a bone at the site of the tumor after a seemingly minor injury (this is called a “pathologic fracture”).
Fever may also be present.

Exams and Tests

If a tumor is suspected, tests to locate the primary tumor and any spread (metastasis) often include:
• Biopsy of the tumor
• Bone scan
• Chest x-ray
• CT scan of the chest
• MRI of the tumor
• X-ray of the tumor

Treatment

Treatment should be done by a cancer specialist (oncologist) and often includes a combination of:
• Chemotherapy
o Cisplatin
o Doxorubicin
o Etoposide
o Ifosfamide
o Methotrexate
• Radiation therapy to the tumor site
• Surgical excision (removal) of the primary tumor

Support Groups

The Sarcoma Alliance is providing support for all folks impacted by ESFT. Here is the link to that Chat Group. http://www.sarcomaalliance.org/chat.shtml

Outlook (Prognosis)

The prognosis (chance of recovery) depends on certain factors before and after treatment.
Before treatment, prognosis depends on:
• Whether the tumor has spread to distant parts of the body.
• Where in the body the tumor started.
• How large the tumor is at diagnosis.
• Whether the tumor has certain genetic changes.
• The patient’s age. Infants and patients aged younger than 15 years have a better prognosis than adolescents aged 15 years and older, young adults, or adults.
• The patient’s gender. Girls have a better prognosis than boys.
• Whether the tumor has just been diagnosed or has recurred (come back).
After treatment, prognosis is affected by:
• Whether the tumor was completely removed by surgery.
• Whether the cancer came back more than two years after the initial treatment.
Treatment options depend on the following:
• Where the tumor is found in the body and how large the tumor is.
• The patient’s age and general health.
• The effect the treatment will have on the patient’s appearance and important body functions.
• Whether the cancer has just been diagnosed or has recurred (come back).
Decisions about surgery may depend on how well the initial treatment with chemotherapy or radiation therapy works

Possible Complications

The treatments needed to fight this disease have many complications, which should be discussed on an individual basis.

When to Contact a Medical Professional

Call your health care provider if your child has any of the symptoms of Ewing’s sarcoma. An early diagnosis can increase the possibility of a favorable outcome.

References

Baker LH. Bone tumors: primary and metastatic bone lesions. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 212.
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology: Bone Cancer. National Comprehensive Cancer Network; 2010. Version 1.2010.
Update Date: 3/2/2010 – most of the above information comes from MedicinePlus – read more here:

http://www.sarcomahelp.org/learning_center/ewings_sarcoma.html

http://www.cancer.gov/cancertopics/pdq/treatment/ewings/patient/#Keypoint1

http://www.nlm.nih.gov/medlineplus/ency/article/001302.htm

DSRCT Statistics

DESMOPLASTIC SMALL ROUND CELL TUMOR: ANALYSIS OF 161 CASES AT TWO MAJOR SARCOMA CENTERS – Nov 2010 – 901218
Vivek Subbiah; Pete Anderson; Joseph Ludwig – University of Texas, MD Anderson
Cancer Center, Houston TX
Aaron Viny; Robert Maki – Memorial Sloan Kettering Cancer Center, New York NY

OBJECTIVE: Desmoplastic small round cell tumor (DSRCT) is a rare translocation-positive (t[11;22][p13;q12]) sarcoma subtype that often presents as diffuse peritoneal sarcomatosis in male adolescents and young adults. Although clinically and molecularly distinct from other small round cell tumors because of the EWS-WT1 translocation, DSRCT treatments have been similar to that of Ewing’s sarcoma using multimodal therapy including surgery, radiation, and chemotherapy. Because of its rarity, optimal therapy for DSRCT remains to be defined. The objective of this study was to assess the survival of patients with DSRCT.

METHODS: The medical charts of patients with a diagnosis of initial or relapsed DSRCT seen at the University of Texas MD Anderson Cancer Center (MDACC) and Memorial Sloan Kettering Cancer Center (MSKCC) were reviewed.

RESULTS: Of 161 patients evaluated at both cancer centers, 86% were male. The mean age (± standard deviation) was 25 ± 11 years; 116 (72%) underwent surgery; 154 patients (96%) received chemotherapy. Neoadjuvant chemotherapy included 5-drug Ewing’s-like chemotherapy at “standard” doses or at high doses (P6 regimen), or vincristine, ifosfamide, doxorubicin, and etoposide in children (<18 years of age) and either Ewing’s sarcoma-based 5-drug therapy or
vincristine, antinomycin D, and ifosfamide in adults. The investigators evaluated response to chemotherapy using CT and/or FDG PET-CT. Local control with cytoreductive surgery followed by external beam radiation therapy was done in 16 patients (10%). Ten patients (6%) underwent stem cell transplantation and 10 patients (6%) had continuous hyperthermic peritoneal perfusion (CHPP) with cisplatin (200 mg/m2). Preliminary analyses showed median survival duration of
2.4 years. There appeared to be no differences in overall survival based on gender, or chemotherapy schedule. Survival analyses and outcomes will be updated.

CONCLUSION: This multi-institutional analysis of patients with DSRCT is the largest reported to date. Although a multidisciplinary approach to treatment likely improves survival duration, the likelihood of durable remission is rare.

Therefore, in addition to chemotherapy improved local control strategies that use both surgery like MDACC CHPP (NCT00436657) and radiotherapy followed by novel therapeutic approaches such as the current MSKCC 1311-8H9 antibody trial (NCT01099644) are reasonable efforts to improve outcomes in DSRCT

DSRCT Studies done in China :
Desmoplastic small round cell tumor (DSRCT) was first reported in 1989. Generally, DSRCT is considered to be an aggressive malignant neoplasm that mainly occurs in the abdominal cavity and has been often seen in adolescents and young male adults. In the present study, a total of 18 cases of DSRCT reported in China between October 1998 and June 2006, including one case treated by the authors, were reviewed and analyzed. Among them, 14 had tumors in the abdominal cavity; the other four cases had tumors in the left fossa orbitalis, the root of the tongue, the soft tissue behind the left eyeball, and the abdominal wall (umbilicus). Overall, the 1-year, 3-year, and 5-year survival rates were 52.36%, 27.92%, and 27.92%, respectively. The survival rate of DSRCT patients is disappointing; however, the survival of patients who had resection of the tumor or received comprehensive clinical treatment is satisfactory.

Aug 2010 – From the Journal of Pediatric Surgery
Volume 40, Issue 1, Pages 251-255, (January 2005)
Results of multimodal treatment for Desmoplastic Small Round Cell Tumor
Presented at the 35th Annual Meeting of the American Pediatric Surgical Association, Ponte Vedra, Florida, May 27-30, 2004.

Dave R. Lal, Wendy T. Su, Suzanne L. Wolden, Kenneth C. Loh, Shakeel Modak, Michael P. La Quaglia</strong>
Abstract
Purpose:

Desmoplastic Small Round Cell Tumors (DSRCTs) are rare aggressive neoplasms that frequently present with large symptomatic intraabdominal masses. We examined the effects of multimodal therapy including induction chemotherapy, aggressive surgical debulking, and external beam radiotherapy on patients with DSRCT.

Methods:

Institutional Review Board permission was obtained. Sixty-six patients were diagnosed by histology, immunohistochemistry, and or cytogenetic as having DSRCT at our institution from July 1, 1972, to July 1, 2003. Data were collected on patient demographics, presenting symptoms, tumor location and extent, treatment regimen, and overall survival.

Results:

A majority of patients were male (91%), Caucasian (85%), and with a median age of 19 (7-58) years old at diagnosis. The most common presenting complaint was an intra-abdominal mass (64%). In 63 patients (96%), the primary tumor was located in the abdomen or pelvis. Thirty-three (50%) had positive lymph nodes and 27 (41%) had distant parenchyma metastases at diagnosis. Overall, 3- and 5-year survivals were 44% and 15%, respectively. Twenty-nine of these patients (44%) underwent induction chemotherapy (P6), surgical debulking, and radiotherapy. Three-year survival was 55% in those receiving chemotherapy, surgery, and radiotherapy vs 27% when all 3 modalities were not used (P &lt; .02). Gross tumor resection was highly significant in prolonging overall survival; 3-year survival was 58% in patients treated with gross tumor resection compared to no survivors past 3 years in the nonresection cohort (P &lt; .000 01). Ten patients (15%) have no evidence of disease with a median follow-up of 2.4 years (range, 0.4-11.2 years).

Ewing’s Sarcoma Statistics

ESFT is very rare, arising in just less than 3 per one million people under 20 years of age (Esiashvili 2008). In 90% of the cases, ESFT is found in patients between 5 and 25 years of age. After age 25, it is exceptionally rare.
About 25% of cases occur before age 10, while 65% arise between ages 10 and 20 years old. Approximately 10% of patients are older than 20 years when they are diagnosed.

ESFT is uncommon in children under the age of five. Metastatic neuroblastoma is a rare cancer which can present with symptoms, signs, and histology similar to ESFT. Small, round cell tumors in patients under age five are more likely to be metastatic neuroblastoma than ESFT.

Boys and young men are affected more frequently than girls and young women. Males also do less well than females in terms of survival. The pelvis is the most common location, followed in order by the femur, tibia, humerus, and scapula. However, ESFT can be found in any part of the body. Interestingly, ESFT is ten times more common in whites than in blacks. These ratios are consistent throughout the world.

Since Ewing’s sarcoma has a higher incidence in children than in adults, it is considered a “pediatric cancer.” The median patient age is 15 years old. There are approximately 200 new cases diagnosed in children and adolescents in the US per year and 20 diagnosed in adults (Esiashvili 2008).

Other sources of DSRCT and ESFT information and facts :

http://online.sagepub.com/
http://orpha.net/
http://rarediseases.info.nih.gov/
http://protopage.com/sarcoma#Sarcoma_Post-It®_Links/Page_1/

General Childhood Cancer Facts

In the U.S. almost 3000 children die from cancer each year, more than from asthma, diabetes, cystic fibrosis, congenital anomalies, and pediatric AIDS combined.

Cancer is the number one disease killer of children between ages of 1-19.

1 in 330 will be diagnosed with cancer by age 20.

The incidence of childhood cancer has increased EVERY year for the last 25 years.

In the past 25 years ONLY ONE new cancer drug has been approved for pediatric use. Since children can handle much more chemo than adults, most treatments are little more than mega doses of adult cancer chemotherapy treatments. The result of these high doses of chemo on children is a higher rate of secondary cancers. For reasons not fully known, teenagers experience the highest rate of secondary cancers as a result of the high dose chemotherapy treatments.

Young adults aged 15-22 have the lowest cancer survival rate of any age group.

Teenagers are extremely underrepresented in clinical trials for cancer, especially the 15-19 age group. They tend to be excluded from both childhood and adult cancer studies due to their age.

September is Pediatric Cancer Awareness month, which nationally goes largely unrecognized.

Currently there are between 30-40,000 children being treated for cancer in the US.

The National Cancer Institute’s federal budget is about $5 Billion. Less than 3% of the budget goes towards all pediatric cancers combined. The rest goes toward adult cancers. Breast cancer alone receives 12%. Prostate cancer receives 7%.

The government recently cut the budget for Childhood Cancer Research.

Cancer in General – Facts and Statistical Information

Cancer Facts and Figures 2010

http://www.cancer.org/acs/groups/content/@nho/documents/document/acspc-024113.pdf

Soft Tissue Sarcomas

http://seer.cancer.gov/publications/aya/7_sts.pdf

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