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Desmoplastic Small Round Cell Tumor

DSRCT


Presentation

  • Majority (83%) presented with abdomino-pelvic disease. The others, involving chest wall and extremities. There were 6 patients (33%) with metastatic disease at presentation.[ncbi.nlm.nih.gov]
  • Pulmonary metastases were present at initial staging studies, but no abdominal or pelvic lesion was present.[ncbi.nlm.nih.gov]
  • The first patient presented with symptoms of acute appendicitis and the second patient presented with a mass in the lower abdomen and slightly elevated CA-125 level. In both patients, the tumor was widely metastatic at presentation.[ncbi.nlm.nih.gov]
  • Ascites may be present. In late stages, pleural effusions, pleural implants, mediastinal adenopathy, supraclavicular adenopathy, or bone metastasis may be present.[ncbi.nlm.nih.gov]
  • We present two cases of IDSRCT in a young male and a female. Both typically presented with diffuse peritoneal involvement.[ncbi.nlm.nih.gov]
Agent Orange
  • He was a Vietnam veteran and he admitted being exposed to Agent Orange. On physical examination, the abdomen was distended and tense.[ncbi.nlm.nih.gov]
  • Baz W, El-Soueidi R, Nakhl F, Aoun N, Chin N, Dhar M: Desmoplastic small round-cell tumor: an adult with previous exposure to agent orange. Jpn J Clin Oncol. 2010 Jun;40(6):593-5.[orthopaedicsone.com]
Sepsis
  • He responded poorly to chemotherapy with high-dose cyclophosphamide, doxorubicin and vincristine and died 5 months after presentation secondary to neutropenic sepsis despite G-CSF support and antibiotics.[ncbi.nlm.nih.gov]
Sister Mary Joseph's Nodule
  • Umbilical metastases, also named Sister Mary Joseph's nodules, are well documented in the adult population and most often represent an underlying intra-abdominal malignancy, usually a carcinoma of gastrointestinal or gynecologic origin.[ncbi.nlm.nih.gov]
  • Another peculiar sign on presentation is known as a "Sister Mary Joseph nodule," which is an occasionally painful lump in the umbilicus secondary to metastatic cancer in this location (Figure 1). 10,11 More than 40% of patients have distant metastases[sarcomahelp.org]
Cyanosis
  • A 12-year-old boy presented acutely after an episode of syncope with perioral cyanosis.[ncbi.nlm.nih.gov]
  • MOUTH No central cyanosis Good dentition No angular stomatitis No mouth ulcer 12. PHYSICAL EXAM (Gastrointestinal system) - Physical examination was done on day 4 hospitalization.[slideshare.net]
Knee Pain
  • The patient presented with knee pain, and radiological findings were strongly suggestive of osteogenic sarcoma.[ncbi.nlm.nih.gov]
Neck Swelling
  • A 17-year-old male having painless testicular mass and neck swelling diagnosed to have metastatic DSRCT of the testis. Patient received aggressive chemotherapy with P6 protocol.[ncbi.nlm.nih.gov]
Adnexal Mass
  • Abdominal ultrasonography and computed tomography showed a right adnexal mass. She had a slightly raised serum CA-125 level. Frozen section examination identified the right ovarian mass as a poorly differentiated Sertoli-Leydig cell tumor.[ncbi.nlm.nih.gov]
Painless Testicular Mass
  • A 17-year-old male having painless testicular mass and neck swelling diagnosed to have metastatic DSRCT of the testis. Patient received aggressive chemotherapy with P6 protocol.[ncbi.nlm.nih.gov]

Workup

  • We also discuss the differential diagnostic considerations faced by the pathologist in the workup of small round cell neoplasms of the kidney.[ncbi.nlm.nih.gov]
  • A panel of multiple myoid and epithelial markers should always be employed in the immunohistochemical workup of this neoplasm. The most sensitive myoid and epithelial markers are desmin and CAM 5.2 (both 91%).[nature.com]
Cytopenia
  • Grade 4 cytopenia requiring growth factor support occurred in only one patient; no other significant cytopenias were noted.[ncbi.nlm.nih.gov]

Treatment

  • The overall response rate after multimodality treatment was 39% (CR-5, PR-2).[ncbi.nlm.nih.gov]
  • Aggressive multimodality therapy is the current treatment approach; however. treatment toxicity is of concern.[ncbi.nlm.nih.gov]
  • Because of the rarity of this disease, little is known about optimal treatment. Patients may present with dozens to hundreds of tumors studding the peritoneal cavity.[ncbi.nlm.nih.gov]
  • While combination treatment strategies can confer a survival benefit, the overall prognosis remains poor.[ncbi.nlm.nih.gov]
  • Despite aggressive treatment, less than half of the patients were dead of DSRCT within 2 years of presentation. Although a select group of patients who underwent CRS had improved OS, novel treatments are urgently needed.[ncbi.nlm.nih.gov]

Prognosis

  • The overall prognosis for desmoplastic small round cell tumor remains extremely poor, with reported rates of death as high as 90%.[ncbi.nlm.nih.gov]
  • Prognosis is uncertain in such an aggressive neoplasm as chemotherapy (CT) or radiotherapy (RT) shows various outcomes. Here in; we report four cases, all of which showed diagnostic dilemma and uncertain prognosis.[ncbi.nlm.nih.gov]
  • The prognosis and overall survival rates were generally poor. Commonly used treatment strategies including aggressive tumor resection, polychemotherapy, and radiotherapy, showed various therapeutic effects.[ncbi.nlm.nih.gov]
  • The RMS4.99 study was designed to explore the role of early sequential intensified chemotherapy (SICT) with PBSC rescue in patients with soft tissue sarcoma with a poor prognosis.[ncbi.nlm.nih.gov]
  • Gross tumor resection was highly significant in prolonging overall survival; patients with localized solitary lesion have a better prognosis, most likely due to increased feasibility of resection. DSRCT is a rare malignant tumor with poor prognosis.[ncbi.nlm.nih.gov]

Etiology

  • When encountering an extensive intraabdominal malignancy of uncertain etiology, DSRCT should be in the differential diagnosis.[ncbi.nlm.nih.gov]
  • Nonetheless, the truncated protein was able to stimulate expression of the insulin-like growth factor-I receptor gene, a potent antiapoptotic receptor tyrosine kinase with potentially important roles in DSRCT etiology.[ncbi.nlm.nih.gov]
  • (Etiology) The exact cause and mechanism of Desmoplastic Small Round Cell Tumor formation, is unknown They are thought to occur due to genetic defects (fused genes) occurring on account of certain chromosomal exchanges What are the Signs and Symptoms[dovemed.com]
  • Sites Abdominal cavity, pelvic cavity and extraperitoneal sites including central nervous system, nasal sinuses , lung , bone, kidney , salivary glands , ovary, paratesticular and soft tissue Site of origin may be difficult to discern radiologically Etiology[pathologyoutlines.com]
  • HER2/neu and c-kit are both proto-oncoproteins involved in cellular growth and differentiation, and alterations of these genes have been implicated in the etiology of certain tumors ( 10 , 11 , 12 , 13 ).[nature.com]

Epidemiology

  • A brief review of epidemiology, clinical manifestations as well as pathological and molecular features is also included in the paper.[ncbi.nlm.nih.gov]
  • The objective of this work is to report two new cases of DSRCT and to review the literature to clarify its epidemiological, clinical and pathological aspects.[ncbi.nlm.nih.gov]
  • UR - UR - U2 - 10.1155/2014/680126 DO - 10.1155/2014/680126 M3 - Article VL - 2014 JO - Journal of Cancer Epidemiology JF - Journal of Cancer Epidemiology SN - 1687-8558 M1 - 680126 ER -[nebraska.pure.elsevier.com]
  • 5023 Phylum Soft Tissues::Desmoplastic small round cell tumor WHO/OMS Classification Soft Tissues Other names t(11;22)(p13;q11) in desmoplastic small round cell tumor Phenotype / cell stem origin thought to be of peritoneal blastomatous cell origin Epidemiology[atlasgeneticsoncology.org]
  • […] by Gerald and Rosai in 1989 ( Pediatr Pathol 1989;9:177 ) Highly aggressive, commonly multifocal, spreads along serosal surface Rarely involves the testicular / paratesticular region and if affected, may represent spread from an intraabdominal tumor Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Abdominal cavity, pelvic cavity and extraperitoneal sites including central nervous system, nasal sinuses , lung , bone, kidney , salivary glands , ovary, paratesticular and soft tissue Site of origin may be difficult to discern radiologically Etiology and pathophysiology[pathologyoutlines.com]
  • Chest 121:2079–2080 PubMed CrossRef Google Scholar Miserocchi G (1997) Physiology and pathophysiology of pleural fluid turnover.[link.springer.com]
  • Recent advances in the understanding of the molecular pathophysiology of DSRCT should lead to the development of effective molecularly targeted therapies with fewer side effects.[sarcomahelp.org]
  • At present, the biologic basis or the pathophysiology of this tumor is poorly understood.[nobleresearch.org]

Prevention

  • Prevention Since DSRCT doesn’t have any avoidable risk factors, it is impossible to prevent the onset of this disease. If your or a loved one experience any of the aforementioned symtpoms, see a doctor immediately.[knowcancer.com]
  • Current medical research have not established a way of preventing Desmoplastic Small Round Cell Tumor Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help[dovemed.com]
  • Prevention - Desmoplastic small round cell tumor Not known. Diagnosis - Desmoplastic small round cell tumor The entity was first described by pathologists William L. Gerald and Juan Rosai in 1989.[checkorphan.org]
  • High doses of chemotherapy to shrink the tumor(s) and prevent new ones from forming. This therapy may require the use of rescuing stem cells, which serve as an internal repair system for the body.[cincinnatichildrens.org]
  • In our series, the morbidity after complete CRS without HIPEC/EPIC was only 10% and did not prevent postoperative adjuvant treatment in 66% of patients.[journals.plos.org]

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