Primary Desmoplastic Small Round Cell Tumor of the Femur: Case Report and Review of a Rare Intraosseous Malignancy

2021 ◽  
pp. 106689692110460
Author(s):  
Aarti E. Sharma ◽  
John A. deVries ◽  
Caitlin Agrawal ◽  
Rex C. Haydon ◽  
Thomas Krausz ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Malignant Neoplasms ◽  
Round Cell ◽  
Case Presentation ◽  
Young Males ◽  
Small Round Cell ◽  
Metastatic Lesions ◽  
Pet Ct ◽  
Tumors Of Bone ◽  
Desmoplastic Stroma

Background: Desmoplastic small round cell tumors (DSRCT) are malignant neoplasms of young males arising most commonly in the abdominopelvic cavity, with a subset originating from extra-abdominal soft tissues. As either primary or metastatic lesions, they are rare in intraosseous sites. Case Presentation: We describe the fifth report of primary DSRCT of bone. A healthy 18-year old male presented with a blastic, 17 cm lesion within the left distal femur, suspicious for osteosarcoma or Ewing sarcoma. Subsequent biopsy revealed nests of small round blue cells infiltrating through a desmoplastic stroma. These cells were diffusely positive for epithelial markers, with paranuclear staining for desmin and focal reactivity with NSE. Break-apart FISH revealed a rearrangement in EWSR1, and RNA fusion panel confirmed WT1 as its partner in the pathognomonic t(11;22)(p13;q12) rearrangement. PET/CT showed widespread metastatic disease to visceral and bony sites. Conclusions: Due to their rarity as well as clinicopathologic and immunomorphologic overlap, primary intraosseous DSRCT can create diagnostic challenges with the more frequently encountered tumors of bone.

Small Round Cell Tumors of Bone

2007 ◽  
Vol 131 (2) ◽  
pp. 192-204 ◽  
Author(s):  
Meera Hameed
Keyword(s):  
Molecular Genetic ◽  
Malignant Neoplasms ◽  
Round Cell ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Small Round Cell ◽  
Ovid Medline ◽  
Tumors Of Bone ◽  
Round Cell Tumors ◽  
Ewing Family Tumors

Abstract Context.—Primary small round cell tumors of the bone are a heterogeneous group of malignant neoplasms presenting predominantly in children and adolescents. They include Ewing sarcoma/peripheral neuroectodermal tumor or Ewing family tumors, lymphoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Even though they share many morphological similarities, their unique biological and genetic characteristics have provided substantial insights into the pathology of these diverse neoplasms. Objective.—To provide an overview of the clinical, radiologic, pathologic, and genetic characteristics of these tumors along with a pertinent review of the literature. Data Sources.—A literature search using PubMed and Ovid MEDLINE was performed, and data were obtained from various articles pertaining to clinicopathologic, biological, and genetic findings in these tumors. Additionally, findings from rare cases have been included from author's subspecialty experience. Conclusion.—The diagnosis of small round cell tumors can be made accurately by applying clinicopathologic criteria, as well as a panel of immunohistochemical and genetic studies in appropriate cases. Molecular genetic studies may provide further insight into the biology, histogenesis, and prognosis of these tumors.

scholarly journals FDG PET/CT imaging of desmoplastic small round cell tumor: findings at staging, during treatment and at follow-up

2015 ◽  
Vol 45 (9) ◽  
pp. 1308-1315 ◽  
Author(s):  
Austin Ostermeier ◽  
M. Beth McCarville ◽  
Fariba Navid ◽  
Scott E. Snyder ◽  
Barry L. Shulkin
Keyword(s):  
Fdg Pet ◽  
Ct Imaging ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Pet Ct ◽  
Fdg Pet Ct

scholarly journals Clinical Characteristics, Management, and Outcomes of 19 Nonpediatric Patients with Desmoplastic Small Round Cell Tumor: A Cohort of Brazilian Patients

Sarcoma ◽  
2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Fernando Campos ◽  
Daniel L. Coutinho ◽  
Maria Letícia G. Silva ◽  
Ademar Lopes ◽  
Antônio Nascimento ◽  
...  
Keyword(s):  
Multimodality Treatment ◽  
Cell Tumor ◽  
Rank Test ◽  
Cancer Center ◽  
Round Cell ◽  
Imaging Data ◽  
Young Males ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive mesenchymal malignancy, usually affecting young males. There is no consensus on the best therapeutic approach. We seek to characterize a cohort of nonpediatric patients with DSRCT treated at a large Brazilian cancer center. We performed a retrospective analysis of patients with histologically confirmed DSRCT referred to our institution (2007–2020). Clinical and imaging data were extracted and summarized with descriptive statistics. Survival analyses were conducted by the Kaplan–Meier method and compared with the log-rank test. We included 19 patients with DSRCT, the median age at diagnosis was 26 years (range: 15–41 years), and 68% were male. Ninety percent presented with abdominopelvic masses, and 32% had extra-abdominal metastasis at diagnosis. Eleven patients (58%) underwent surgery, four patients (21%) received whole abdominal adjuvant radiotherapy, and five patients (26%) had hyperthermic intraperitoneal chemotherapy. Median OS was 27 months (interquartile range: 18–51 m). The five-year OS rate was 12%. Our data confirm the aggressiveness of DSRCT despite intense multimodality treatment. Outcomes of patients treated in a reference cancer center in a developing country are similar to cancer centers in developed nations. Multicenter cooperation is urgent to the development of clinical trials and to improve diagnosis and treatment efficacy.

Small Round Cell Tumors of Bone

2012 ◽  
Vol 5 (1) ◽  
pp. 231-256 ◽  
Author(s):  
Justin L. Seningen ◽  
Carrie Y. Inwards
Keyword(s):  
Round Cell ◽  
Small Round Cell ◽  
Tumors Of Bone ◽  
Round Cell Tumors

Extraskeletal Ewing's Sarcoma/Primitive Neuroectodermal Tumor of the Posterior Mediastinum with t(11;22)(q24;q12)

2008 ◽  
Vol 94 (6) ◽  
pp. 888-891 ◽  
Author(s):  
Marosh Manduch ◽  
David F Dexter ◽  
Peter M Ellis ◽  
Kenneth Reid ◽  
Phillip A Isotalo
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Posterior Mediastinum ◽  
Neuroectodermal Tumor ◽  
Malignant Neoplasms ◽  
Round Cell ◽  
Mediastinal Tumors ◽  
Small Round Cell ◽  
Extraskeletal Ewing’S Sarcoma

Ewing's sarcoma/primitive neuroectodermal tumor family of tumors is part of a rare group of malignant neoplasms with small round-cell morphology. We describe a 24-year-old woman who presented with non-specific back pain. A chest radiograph and magnetic resonance imaging demonstrated an extraosseous, dumbbell-shaped mass of the posterior mediastinum with extension into the spinal canal. The patient underwent a left posterolateral thoracotomy and a T3–5 laminectomy with subsequent multi-agent chemotherapy. Histopathologic examination of the tumor demonstrated sheets of primitive small round malignant cells that showed no visible differentiation. Neoplastic cells were strongly immunoreactive for CD99 and vimentin and were negative for chromogranin, synaptophysin, CD31, CD34, calcitonin, desmin, low-molecular weight cytokeratins, wide-spectrum cytokeratins, leukocyte common antigen, S-100 protein, and thyroid transcription factor-1. The neoplasm was diagnosed as a Ewing's sarcoma/primitive neuroectodermal tumor, and cytogenetic studies confirmed a t(11;22)(q24;q12) chromosomal translocation and an associated trisomy of chromosome 2, supporting the histologic diagnosis. Extraskeletal Ewing's sarcoma/primitive neuroectodermal tumors are rare neoplasms that should be distinguished from other small round-cell tumors by morphology and ancillary laboratory techniques. Although rare, they need to be considered in the differential diagnosis of primary mediastinal tumors.

scholarly journals Successful Radical Pneumonectomy for a Primitive Neuroendodermal Tumor in the Lung: A Case Report and Review of the Literature

2021 ◽  
Vol 8 ◽  
Author(s):  
Bingqing Yue ◽  
Peng Chen ◽  
Pan Yin ◽  
Jiankai Wang ◽  
Fanying Liu ◽  
...  
Keyword(s):  
Leukemia Virus ◽  
Neuron Specific Enolase ◽  
Lung Parenchyma ◽  
Malignant Neoplasms ◽  
Round Cell ◽  
Small Round Cell ◽  
Friend Leukemia ◽  
Virus Integration ◽  
Friend Leukemia Virus ◽  
Ewing Family Of Tumors

Peripheral primitive neuroendodermal tumors (PNETs) and Ewing's sarcoma belong to the Ewing family of tumors and are small round-cell malignancies originating from spinal cord cells. These tumors account for 5% of all small round-cell malignant neoplasms. PNETs that arise from the lung parenchyma without pleural or chest wall involvement are very rare. We report a case of an adult female with a large pulmonary PNET who had given birth just 1 month prior to the diagnosis. She had cough and expectoration for 6 months, and the preoperative examination showed no metastases. Thus, we performed radical pneumonectomy and lymph node dissection. The patient recovered well without surgical complications and was discharged 7 days after the surgery. Postoperative pathology confirmed that the tumor was a small round-cell malignancy, and the tumor cells were positive for CD99, Friend leukemia virus integration 1 (FLI-1), and neuron-specific enolase (NSE), which was consistent with the diagnosis of a PNET. For primary large pulmonary PNETs, radical pneumonectomy may be a safe surgical method, worthy of further application in clinical practice.

Primitive Neuroectodermal Tumor of the Gallbladder

2004 ◽  
Vol 128 (5) ◽  
pp. 571-573 ◽  
Author(s):  
Dong Eun Song ◽  
Ga Won Choi ◽  
Sun-Young Jun ◽  
Jae Y. Ro
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
Soft Tissues ◽  
Neuron Specific Enolase ◽  
Neuroectodermal Tumor ◽  
Chromosomal Translocations ◽  
Common Antigen ◽  
Round Cell ◽  
Small Round Cell ◽  
Positive Immunoreactivity ◽  
Round Cell Tumors

Abstract Ewing sarcoma/primitive neuroectodermal tumor (ES/ PNET) most commonly occurs in the soft tissues of the extremities and the paravertebral areas. To our knowledge, no case of PNET has been reported in the gallbladder to date. We report a case of PNET of the gallbladder occurring in a 53-year-old woman. Microscopically, the monotonous small round cells with a formation of Homer-Wright rosettes showed intense membranous positive immunoreactivity for MIC2/CD99, as well as for neuron-specific enolase and synaptophysin. Other small round cell tumors, such as lymphoma, rhabdomyosarcoma, or melanoma, were excluded in light of negative immunoreactivity for leukocyte common antigen, desmin, and S100. The diagnosis of PNET was rendered based on the characteristic morphology and immunohistochemical findings, despite an absence of chromosomal translocations, such as t(11; 22)(q24;q12) and t(21;22)(q22;q12).

Sign in / Sign up

Export Citation Format

Share Document