scholarly journals Molecular, biological and diagnostic features of Ewing sarcoma and undifferentiated small round cell sarcomas of bone and soft tissue

2021 ◽  
Vol 13 (1) ◽  
pp. 24-31
Author(s):  
K. Y. Sinichenkova ◽  
V. Y. Roschin ◽  
A. E. Druy
Keyword(s):  
Soft Tissue ◽  
Gene Rearrangement ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Molecular Genetic ◽  
Round Cell ◽  
Diagnostic Features ◽  
Genetic Characteristics ◽  
Small Round Cell ◽  
Ets Family

Ewing’s sarcoma is a highly malignant small round cell tumor with a unique rearrangement of the EWSR1 (FUS) gene with partners genes of ETS family. Tumors with Ewing's sarcoma morphological features lacking without specific EWSR1 rear-rangement called undifferentiated small round cell sarcomas of bone and soft tissue. This group includes: sarcomas with СIC gene rearrangement, sarcomas with BCOR gene rearrangement and sarcomas with EWSR1 (FUS) gene rearrangement with non-ETS gene-partner. Clinical, morphological and molecular genetic characteristics of these groups of tumors will be described below

scholarly journals Ewing’s sarcoma in maxilla

2019 ◽  
Vol 12 (2) ◽  
pp. e227819
Author(s):  
Madhusudan Astekar ◽  
Shipra Saxena ◽  
Aditi Murari ◽  
Bhari Sharanesha Manjunatha
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Ewing Sarcoma ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Round Cell ◽  
Primitive Neuroectodermal Tumour ◽  
Small Round Cell ◽  
Cell Neoplasm ◽  
Age Range

Ewing sarcoma is a lesion of bone, described in small round cell neoplasm. This tumour resembles primitive neuroectodermal tumour both clinically and histologically. Major difference between these two is that the former arises in the bone and the later in soft tissue. It appears most frequently in males at the age range of of 5–25 years, 80% of which occurs within first two decades of life. Males are more commonly affected than females. Present paper reported with a case report of male patient with 24-year-old showing Ewing’s sarcoma of right maxilla.

scholarly journals Role of immunohistochemistry in the diagnosis of malignant small round cell tumors

1970 ◽  
Vol 1 (2) ◽  
pp. 87-91
Author(s):  
R Bashyal ◽  
TB Pathak ◽  
S Shrestha ◽  
CB Pun ◽  
S Banstola ◽  
...  
Keyword(s):  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Small Cell ◽  
Low Grade ◽  
Round Cell ◽  
Small Round Cell ◽  
Small Cell Variant ◽  
Valuable Adjunct ◽  
Cell Variant ◽  
Round Cell Tumors

Background: Immunohistochemistry is a key tool for the analysis of localization of target molecules within tissues. It has a significant role in the identification of tumors lacking evidence of lineage differentiation on the basis of routine light microscopic morphology alone. Approximately 90% of tumors posing diagnostic difficulties by morphology could be accurately classified by exploiting immunohistochemistry. The aim of this study is to identify the true identity of malignant small round cell tumors by immunohistochemical analysis. Materials and Methods:This was a retrospective study done in Department of Histopathology of B.P.Koirala Memorial Cancer Hospital from January 2010 to April 2011.A total of 40 cases small round cell tumors were selected for immunostaining. The immunohistochemistry technique used is the Polymer detection-EnvisionTM System, a two step staining technique based on Horse Radish Peroxidase labeled dextran polymer technology (DAKO Company). Results: Out of 40 cases of malignant small round cell tumors, there were 21 cases (52.5%) of Non- Hodgkin Lymphoma , 11 cases (27.5%) of Ewing’s Sarcoma/Primitive Neuroectodermal Tumor, 1 case (2.5%) of Lymphoblastic Lymphoma , 1 case (2.5%) of Rhabdomyosarcoma, 2 cases (5%) of Low grade neuroendocrine tumor, 1 case (2.5%) of Neuroblastoma, 2 cases (5%) of Poorly differentiated Synovial Sarcoma (small cell variant), 1case (2.5%) of Malignant Melanoma (small cell variant). Conclusion: Immunohistochemistry is a valuable adjunct to routine hematoxylin and eosin staining for adequate and accurate categorization of malignant small round cell tumors. Keywords: Immunohistochemistry; Malignant Small Round Cell Tumor; Non Hodgkin’s Lymphoma; Ewing’s Sarcoma; Rhabdomyosarcoma DOI: http://dx.doi.org/10.3126/jpn.v1i2.5398 JPN 2011; 1(2): 87-91

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 Novel Secondary Somatic Mutations in Ewing's Sarcoma and Desmoplastic Small Round Cell Tumors

PLoS ONE ◽  
2014 ◽  
Vol 9 (8) ◽  
pp. e93676 ◽  
Author(s):  
Yunyun Jiang ◽  
Vivek Subbiah ◽  
Filip Janku ◽  
Joseph A. Ludwig ◽  
Aung Naing ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Round Cell ◽  
Small Round Cell ◽  
Round Cell Tumors

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.

A multiplex assay for detection of common pediatric sarcoma tumor markers

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 10041-10041
Author(s):  
R. A. Bender ◽  
J. Y. Liu ◽  
H. Li ◽  
K. Z. Qu ◽  
A. D. Sferruzza ◽  
...  
Keyword(s):  
Synovial Sarcoma ◽  
Tumor Markers ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Rna Extraction ◽  
Multiplex Assay ◽  
Round Cell ◽  
Rt Pcr ◽  
Small Round Cell ◽  
Pcr Products

10041 Background: Molecular assays for tumor markers have become an important component in diagnosing pediatric sarcomas and small round cell tumors. We developed a multiplex assay to detect 7 common translocations associated with synovial sarcoma (SYT/SSX1, SYT/SSX2), Ewing's sarcoma (EWS/FLI1, EWS/ERG), rhabdomyosarcoma (PAX3/FKHR, PAX7/FKHR), and small round cell desmoplastic tumors (SRCDT) (EWS/WT1). Methods: 27 samples were analyzed with the multiplex assay: 13 formalin-fixed paraffin-embedded tumor samples, 5 fresh frozen tumor samples, 2 commercial RNA samples (SYT/SSX1, SYT/SSX2), 3 cell line samples (EWS/FLI, EWS/ERG, PAX3/FKHR), 1 synthetic control (PAX7/FKHR), and 3 negative controls. After RNA extraction, RT-PCR was performed using the SuperScript III One-Step RT-PCR System with Platinum Taq DNA Polymerase (Invitrogen, Carlsbad, CA). 12 primers were added to a single master mix to amplify all 7 translocations and an internal control; 1 primer from each pair was fluorescently labeled. After RT-PCR, the PCR products were separated on a genetic analyzer and the translocations identified based on the size of the PCR products and their signal intensity. Samples were also analyzed by our current assay (real-time RT-PCR or standard RT-PCR/gel electrophoresis). Results: The results of our current and multiplex assays were positive for all synthetic controls, cell lines, and commercial RNA samples and were concordant for 15/18 tumor samples: 2/7 synovial sarcoma samples were positive for SYT/SSX1 and 3/7 for SYT/SSX2; 2/6 Ewing's sarcoma samples were EWS/FLI1-positive; 1/1 SRCDT sample was EWS/WT1-positive; and 4/4 rhabdomyosarcoma samples were negative. The 3 discordant samples tested negative with our current assay; the new multiplex assay detected EWS/FLI1 in 1 of these and SYT/SSX2 in 2, in agreement with the histological classification. Conclusions: This multiplex assay can detect 7 translocations commonly found in pediatric soft tissue tumors in a single-tube reaction, with increased clinical sensitivity relative to our current methods. No significant financial relationships to disclose.

scholarly journals Small Round Cell Tumors of Soft Tissue and Bone

2021 ◽  
Author(s):  
Shi Wei ◽  
Gene P. Siegal
Keyword(s):  
Soft Tissue ◽  
English Language ◽  
Clinical Decision Making ◽  
Molecular Genetic ◽  
Clinical Decision ◽  
Vital Role ◽  
Round Cell ◽  
Small Round Cell ◽  
Round Cell Tumors ◽  
Radiologic Characteristics

Context.— Small round cell tumors of soft tissue and bone constitute a divergent group of neoplasms. These lesions often demonstrate overlapping clinical and radiologic characteristics and share histomorphologic and sometimes immunophenotypic similarities, but they typically have diverse prognostic outcomes, thus warranting different clinical management. Recent advances in molecular and cytogenetic techniques have identified a number of novel molecular alterations contributing to the diversity of these lesions. This state-of-the-art knowledge has enhanced our understanding of these diseases. Objective.— To provide an overview of the current concepts in the classification and diagnosis of small round cell tumors of soft tissue and bone, focusing on salient histologic features, key immunophenotypic characteristics, and recent molecular genetic advancements. Data Sources.— Data were obtained from pertinent peer-reviewed English-language literature and firsthand experience from the authors as practicing bone and soft tissue pathologists. Conclusions.— Immunohistochemistry plays a vital role in rendering a specific diagnosis or narrowing the differential diagnosis in small round cell tumors of soft tissue and bone. Molecular genetic studies are often needed, especially for those lesions with unusual histologic features, an uncommon immunoprofile, and/or unusual clinical presentation. Accurate diagnosis of these tumors necessitates recognition of salient histologic features, judicious and astute use of ancillary studies, and correlation with the clinical and radiologic characteristics to guide clinical decision-making.

Sign in / Sign up

Export Citation Format

Share Document