Incidence and Outcomes of Desmoplastic Small Round Cell Tumor: Results from the Surveillance, Epidemiology, and End Results Database

Lettieri, Christina K.; Garcia-Filion, Pamela; Hingorani, Pooja

doi:10.1155/2014/680126

Cited by 87 publications

(104 citation statements)

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“…Using a national tumor registry, the current study sought to describe patterns of care and identify risk factors for OS among patients presenting with DSRCT. To the best of our knowledge, the current study represents the largest study of DSRCT and one of two evaluating national patterns of care and survival among adults presenting with DSRCT . In our analysis of 491 patients, the majority of patients were young Caucasian males, with a median age of 27 years and presented with a stage IV disease.…”

Section: Discussionmentioning

confidence: 96%

“…DSRCT is an aggressive and rare malignancy originating from the abdominal cavity and the peritoneum . Given the rarity of these tumors, limited data exist describing practice patterns, the optimal standard of care and survival of patients with DSRCT.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Desmoplastic small round cell tumors (DSRCTs) are a rare and aggressive histological subtype of soft tissue sarcoma . In the United States, the annual incidence of DSRCT is 0.74 per million individuals, with the highest incidence being observed among patients aged 20 to 24 years . Surgery remains the mainstay of treatment, with complete and aggressive surgical resection being a determinant of long‐term patient survival .…”

Section: Introductionmentioning

confidence: 99%

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A national analysis of patterns of care and outcomes for adults diagnosed with desmoplastic small round cell tumors in the United States

Gani

Goel

Canner

et al. 2019

Journal of Surgical Oncology

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Background Because of the rarity of desmoplastic small round cell tumors (DSRCT), there is a lack of data describing patterns of care and survival for these patients. Using a national tumor registry, the current study sought to describe patterns of care and clinical outcomes for patients with DSCRT. Methods Data from the National Cancer Database were used to identify 491 patients aged 18 years or older diagnosed with DSRCT between 2004 and 2014. Multivariable Cox proportional hazards regression analysis was used to identify factors associated with overall survival (OS). Results Among all patients, 41.2% (n = 200), underwent surgical resection of their primary tumor, chemotherapy was administered to 86.5% (n = 415) of patients, while radiation therapy was administered to 13.0% (n = 63) of patients. Over the study, 69.7% of patients died with a median OS of 25.9 months (interquartile range [IQR]: 22.7‐27.5); 1‐, 3‐, and 5‐year OS were 78.6%, 32.3%, and 18.4%, respectively. On multivariable analysis, stage IV disease (Hazard Ratio [HR] = 2.12, 95% CI: 1.41‐3.18), receipt of surgery (HR = 0.68, 95% CI: 0.50‐0.91), chemotherapy (HR = 0.52, 95% CI: 0.35‐0.78), or radiation therapy (HR = 0.55, 95% CI: 0.33‐0.92) were independently associated with OS. Conclusions Although receipt of multimodality treatment may lead to improved survival, further research and clinical trials are required to establish best practices for the care of DSRCT.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A national analysis of patterns of care and outcomes for adults diagnosed with desmoplastic small round cell tumors in the United States

Gani

Goel

Canner

et al. 2019

Journal of Surgical Oncology

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“…Desmoplastic small round cell tumor (DSRCT) is a very rare type of sarcoma, with an age-adjusted incidence rate of 0.3 cases/million [1], which typically arises from the abdominal or pelvic peritoneum and occurs mainly in male adolescents and young adults (peak incidence at 20–24 years of age) [1]. Current therapeutic approaches involve the use of multimodal therapeutic regimen, including aggressive polychemotherapy, debulking surgery, and whole abdominal radiation [2].…”

Section: Introductionmentioning

confidence: 99%

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

et al. 2016

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BackgroundGenome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor. Here, we present a comprehensive genomic profiling of one DSRCT affecting a 26-year-old male, who achieved an excellent outcome.MethodsWe investigated somatic and germline variants through whole-exome sequencing using a family based approach and, by array CGH, we explored the occurrence of genomic imbalances. Additionally, we performed mate-paired whole-genome sequencing for defining the specific breakpoint of the EWS-WT1 translocation, allowing us to develop a personalized tumor marker for monitoring the patient by liquid biopsy.ResultsWe identified genetic variants leading to protein alterations including 12 somatic and 14 germline events (11 germline compound heterozygous mutations and 3 rare homozygous polymorphisms) affecting genes predominantly involved in mesenchymal cell differentiation pathways. Regarding copy number alterations (CNA) few events were detected, mainly restricted to gains in chromosomes 5 and 18 and losses at 11p, 13q, and 22q. The deletions at 11p and 22q indicated the presence of the classic translocation, t(11;22)(p13;q12). In addition, the mapping of the specific genomic breakpoint of the EWS-WT1 gene fusion allowed the design of a personalized biomarker for assessing circulating tumor DNA (ctDNA) in plasma during patient follow-up. This biomarker has been used in four post-treatment blood samples, 3 years after surgery, and no trace of EWS-WT1 gene fusion was detected, in accordance with imaging tests showing no evidence of disease and with the good general health status of the patient.ConclusionsOverall, our findings revealed genes with potential to be associated with risk assessment and tumorigenesis of this rare type of sarcoma. Additionally, we established a liquid biopsy approach for monitoring patient follow-up based on genomic information that can be similarly adopted for patients diagnosed with a rare tumor.Electronic supplementary materialThe online version of this article (doi:10.1186/s40246-016-0092-0) contains supplementary material, which is available to authorized users.

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A Young Man With Disseminated Intra-abdominal Masses

2018

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A man in his 20s presented with a 2-month history of vague, right upper-quadrant abdominal pain, with associated 5-kg weight loss, loss of appetite, and increasing abdominal distension. He reported a small mass in the right scrotum that was evaluated 5 years previously and was reassured to be a nonmalignant lesion. Physical examination was notable for a distended abdomen with a palpable left abdominal mass. Testicular examination revealed an approximately 1-cm firm right spermatic cord nodule. Laboratory tests showed lactate dehydrogenase levels of 818 U/L (to convert to μkat/L, multiply by 0.0167), with no significant β-human chorionic gonadotropin and α-fetoprotein levels. Computed tomography (CT) of the abdomen (Figure , A and B) revealed innumerable masses throughout the abdomen and pelvis, with the largest measuring 17.5 × 14 × 14 cm and a 3.9-cm enhancing lesion in the left hepatic lobe, and a small amount of ascites. Testicular sonogram disclosed a 1.5-cm right epididymal cyst. Percutaneous biopsy and histologic examination of the dominant left abdominal mass revealed neoplastic cells (Figure , C) that were positive for cytokeratin, desmin but negative for S100. Fluorescence in situ hybridization (FISH) was positive for EWS-WT1 rearrangement. Computed tomographic image of abdomen and pelvis A Computed tomographic image of abdomen B Histopathologic image C Figure. Coronal view (A) and sagittal view (B) contrast-enhanced computed tomographic imaging revealed innumerable abdominopelvic masses. Blue arrowheads indicate the dominant mass and the red arrowhead indicates the liver mass. C, Hematoxylin-eosin stain (original magnification ×40). WHAT IS YOUR DIAGNOSIS? A. Metastatic neuroendocrine carcinoma B. Metastatic gastrointestinal stromal tumor C. Metastatic testicular carcinoma D. Advanced desmoplastic small round cell tumor Clinical Review & Education

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Incidence and Outcomes of Desmoplastic Small Round Cell Tumor: Results from the Surveillance, Epidemiology, and End Results Database

Cited by 87 publications

References 19 publications

A national analysis of patterns of care and outcomes for adults diagnosed with desmoplastic small round cell tumors in the United States

A national analysis of patterns of care and outcomes for adults diagnosed with desmoplastic small round cell tumors in the United States

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

A Young Man With Disseminated Intra-abdominal Masses

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