Desmoplastic small round cell tumor

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]

Synonyms and Keywords: Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor

Overview

Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and malignant neoplasm initially reported by Gerald and Rosai in 1989. The pathogenesis or histogenesis of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the abdominal and/or pelvic peritoneum. Moreover, it was also reported in epididymis, pleura, soft tissues, bone, ovary, and kidney. The diagnosis can be confirmed by histological and immunohistochemistry studies. CT scan is the most widely used diagnostic modality; abdominopelvic site was the commonest presentation and the disease can occur at other nonserosal surfaces also. Despite multimodality treatments, optimal treatment strategies remain controversial and the prognosis is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of abdominal DSRCT and retrospectively analyzed its clinical, radiological, and biopathological features, highlighting the modalities of treatment.[1]

Historical Perspective

Desmoplastic small round cell tumor was first described by pathologists, William L. Gerald and Juan Rosai, in 1989.[1]

Pathophysiology

Pathogenesis

Desmoplastic small round cell tumor is a highly aggressive, rare tumor of mesenchymal origin whose oncogenic effect is presumed to originate from the unique chromosomal translocation t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene EWS, to the C-terminal domain of Wilms’ tumor suppressor gene, WT1, which is found in most but not all desmoplastic small round cell tumors.[2]

Genetics

Desmoplastic small round cell tumor is associated with a unique chromosomal translocation t(11;22)(p13:q12), resulting in an EWS/WT1 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 EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.[3]

Associated Conditions

There may be a chimeric relationship between desmoplastic small round cell tumor, and Wilms' tumor and Ewing's sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small cell tumors.[3]

Gross Pathology

  • On gross pathology, desmoplastic small giant cell tumor is characterized by a mass demonstrating the presence of nonuniform white-gray multinodules, distributed widely in the peritoneum.[1]
  • Desmoplastic small round cell tumor tends to grow along a serosal lining, most commonly the peritoneal surface, but other primary sites have been described.[2]

Microscopic Pathology

On microscopic histopathological analysis, desmoplastic small round cell tumor is characterized by:[4][5]

  • Broad bands of paucicellular fibrous stroma
  • Small round cells in nests with an undulating sharp border
  • The small round cells lack distinct nucleoli and have scant cytoplasm; they are small round cell tumor cells.

Gallery

Immunohistochemistry

Desmoplastic small round cell tumor is demonstrated by positivity to tumor markers, such as:[4][1]

Causes

Common causes of desmoplastic small round cell tumor include genetic mutations. A chromosomal translocation, t(11;22)(p13:q12) resulting in an EWS/WT1 transcript, may result in formation of desmoplastic small round cell tumor. 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. ENT4 is also known as PMAT.[3]

Differentiating Desmoplastic Small Round Cell Tumor from other Diseases

  • Desmoplastic small round cell tumor in the abdomen may cause gastrointestinal symptoms and mimic other abdominal tumors. So, they must be differentiated from other tumors in the abdomen, such as:[7]
  • In older patients, desmoplastic small round cell tumor must be differentiated from:[7][8]
  • In males, desmoplastic small round cell tumor may be mistaken for testicular germ cell tumor while in females, desmoplastic small round cell tumor may be mistaken for ovarian cancer.[7]
  • Desmoplastic small round cell tumor must be differentiated from other small-round blue cell cancers, such as:[7][9]

Epidemiology and Demographics

Incidence

  • Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05 and 0.02 per 100,000 individuals, respectively.[2]
  • The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.[2]

Age

  • Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults.
  • Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.[2]

Gender

Males are more commonly affected with desmoplastic small round cell tumor than females. The male to female ratio is approximately 4 to 1.[2]

Race

Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell tumor.[2]

Gallery

Gender and race DSRCT.PNG
(a) Overall age-adjusted incidence of desmoplastic small round cell tumor, (b) Sex-based age-adjusted incidence of desmoplastic small round cell tumor. Males are more likely than females to get desmoplastic small round cell tumor, (c) Race-based, age-adjusted incidence of DSRCT. African Americans are more likely than Caucasians to get desmoplastic small round cell tumor.[2]

Demographics

DSRCT.jpg
From Christina K. Lettieri et al.[2]

Risk Factors

There are no established risk factors for desmoplastic small round cell tumor.[10]

Natural History, Complications, and Prognosis

Natural History

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.[11]

Complications

Complication sof desmoplastic small round cell tumor include:[12][13]

Prognosis

  • The prognosis for desmoplastic small round cell tumor remains poor and depends upon the stage of the cancer.
  • The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.[11]

Gallery

Prognosis DSRCT.PNG
(a) Race-based survival of desmoplastic small round cell tumor. There may be a survival disadvantage for African americans compared to Caucasians. Although it did not reach statistical significance, this analysis suggests that African americans are 33% more likely to succumb to desmoplastic small round cell tumor than are Caucasians, (b) Treatment-based survival of desmoplastic small round cell tumor, radiation versus no radiation. There was no statistically significant difference in survival amongst patients who received radiation therapy compared to those who did not, (c) Treatment-based survival of demsoplastic small round cell tumor, radiation after surgery versus no radiation. Patients who received radiation following surgery fared better than those patients who did not.
From Christina K. Lettieri et al.[2]

Diagnosis

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 the symptoms are often misdiagnosed by physicians. The abdominal lump may grow to enormous size before being noticed by the patient.[14]

Common Symptoms

Common symptoms of desmoplastic small round cell tumor include:[14][1]

Less Common Symptoms

Less common symptoms of desmoplastic small round cell tumor include:[14]

Physical Examination

Common physical examination findings of desmoplastic small round cell tumor include:[5][1]

CT

Gallery

MRI

  • MRI may helpful in delineating the extent of desmoplastic small round cell tumor, if surgery is considered.[5]
  • On MRI, desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous stroma and degenerative features including necrosis, hemorrhage, and [[calcification].[5]

Treatment

  • Desmoplastic small round cell tumor 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.[15]
  • Surgical excision with combination chemotherapy as an adjunct is mandatory for nonmetastatic cases because these modalities used in isolation may have less impact.[1]
  • There is no standard protocol for desmoplastic small round cell tumor; however, recent journals and studies have reported that some patients respond to high-dose (P6 Protocol) chemotherapy, maintenance chemotherapy, debulking procedure, cytoreductive surgery, and radiation therapy.
  • Other treatment options for desmoplastic small round cell tumor include hematopoietic stem cell transplantation, intensity-modulated radiation Therapy, radiofrequency ablation, stereotactic body radiation therapy, intraperitoneal hyperthermic chemoperfusion, and clinical trials.

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 (2014) "Desmoplastic Small Round Cell Tumor of the Abdomen and Pelvis: Clinicopathological Characters of 12 Cases". The Scientific World Journal 2014: 1–7. doi:10.1155/2014/549612. ISSN 2356-6140.
  2. 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 2.9 (2014) "Incidence and Outcomes of Desmoplastic Small Round Cell Tumor: Results from the Surveillance, Epidemiology, and End Results Database". Journal of Cancer Epidemiology 2014: 1–5. doi:10.1155/2014/680126. ISSN 1687-8558.
  3. 3.0 3.1 3.2 Causes of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016
  4. 4.0 4.1 icroscopic features of desmoplastic small round cell tumour. Libre pathology 2016. https://librepathology.org/wiki/Desmoplastic_small_round_cell_tumour. Accessed on March 30, 2016
  5. 5.0 5.1 5.2 5.3 (2012) "Imaging of desmoplastic small round cell tumour in adults". The British Journal of Radiology 85 (1010): 187–192. doi:10.1259/bjr/57186741. ISSN 0007-1285.
  6. 6.0 6.1 6.2 Desmoplastic small round cell tumor. Wikipedia 2016. Accessed on March 29, 2016
  7. 7.0 7.1 7.2 7.3 Differential diagnosis of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016
  8. Differential diagnosis of desmoplastic small round cell tumour. Dr Yuranga Weerakkody and Dr Ayush Goel et al. Radiopaedia 2016. http://radiopaedia.org/articles/desmoplastic-small-round-cell-tumour. Accessed on March 29, 2016
  9. Small round blue cell tumours. Dr Yuranga Weerakkody and A.Prof Frank Gaillard et al. Radiopaedia 2016. http://radiopaedia.org/articles/small-round-blue-cell-tumours. Accessed on March 29, 2016
  10. Causes of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor. Accessed on March 29, 2016
  11. 11.0 11.1 (2011) "The diagnosis and management of desmoplastic small round cell tumor: a review". Current Opinion in Oncology 23 (4): 385–389. doi:10.1097/CCO.0b013e3283477aab. ISSN 1040-8746.
  12. (2015) "A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management". Case Reports in Oncological Medicine 2015: 1–6. doi:10.1155/2015/925453. ISSN 2090-6706.
  13. 13.0 13.1 Radiographic features of desmoplastic small round cell tumour. Dr Yuranga Weerakkody and Dr Ayush Goel et al. Radioipaedia 2016. http://radiopaedia.org/articles/desmoplastic-small-round-cell-tumour. Accessed on March 29, 2016
  14. 14.0 14.1 14.2 Symptoms of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016
  15. Treatment of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor. Accessed on March 30, 2016

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