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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]
  • 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]
  • When presenting within visceral organs, as kidney, the diagnosis of DSRCT imposes significant difficulties. We present a case of primary DSRCT of the kidney in a 10-year-old boy mimicking clinically and pathologically Wilms tumor.[ncbi.nlm.nih.gov]
  • Herein, we present the pathologic and molecular findings in the case of a young man who presented with a large renal mass without any visceral or serosal involvement.[ncbi.nlm.nih.gov]
Supraclavicular Adenopathy
  • In late stages, pleural effusions, pleural implants, mediastinal adenopathy, supraclavicular adenopathy, or bone metastasis may be present. With this challenging disease, multidisciplinary therapy, including aggressive surgery, is warranted.[ncbi.nlm.nih.gov]
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]
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]
Epigastric Pain
  • A 14-year-old girl presented with intermittent epigastric pain; abdominal computed tomography and upper gastrointestinal barium X-ray revealed an 8 cm   10 cm space-occupying mass in the duodenal region.[ncbi.nlm.nih.gov]
Cyanosis
  • A 12-year-old boy presented acutely after an episode of syncope with perioral cyanosis.[ncbi.nlm.nih.gov]
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]
Renal Insufficiency
  • Significant morbidity after HIPEC included renal insufficiency and gastroparesis. There were no operative mortalities.[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]
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]

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]
Ovarian Mass
  • Every ovarian mass regardless of age should be approached with caution.[ncbi.nlm.nih.gov]
  • Frozen section examination identified the right ovarian mass as a poorly differentiated Sertoli-Leydig cell tumor.[ncbi.nlm.nih.gov]
  • Other reported symptoms include unknown lumps, thyroid conditions, hormonal conditions, blood clotting, kidney or urological problems, testicle, breast, uterine, vaginal, or ovarian masses.[checkorphan.org]
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]
  • Intraperitoneal cisplatin treatment showed little effect. Apatinib was then recommended. Apatinib revealed outstanding effect on reducing mass size and ascites during 2-month treatment.[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]

Prognosis

  • 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]
  • Abstract 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]
  • It has generally been associated with a very poor prognosis. The patient initially underwent biopsy of the mass and omentectomy for mesenteric implants followed by chemotherapy.[ncbi.nlm.nih.gov]
  • They are usually intra-abdominal tumors affecting young people and have classically been associated with a bad 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 DSRCT seems to originate from the mesothelium. In almost all cases, a specific translocation t(11;22)(p13;q12) is found that juxtaposes the EWSR1 gene to the WT1 tumor suppressor gene.[orpha.net]
  • (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]

Epidemiology

  • 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]
  • A brief review of epidemiology, clinical manifestations as well as pathological and molecular features is also included in the paper.[ncbi.nlm.nih.gov]
  • Summary Epidemiology DSRCT is extremely rare. Only a few hundred cases have been reported worldwide since the first description in 1989. It usually affects males, during adolescence or young adulthood, with a male-to-female ratio of 4:1.[orpha.net]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Desmoplastic small round-cell tumor (DSRCT) is a member of the small round-cell tumor group that also includes rhabdomyosarcoma[mayocliniclabs.com]
  • 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]

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]
  • Some patients responded and some ultimately progressed, but I think that this drug has promise in the adjuvant setting and the potential for use in relapse prevention,” he says.[consultqd.clevelandclinic.org]

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