Cytology of Undifferentiated Round-Cell Sarcomas of Bone and Soft Tissue: Ewing Sarcoma or Not Ewing Sarcoma , That Is the Question

2021 ◽  
pp. 1-12
Author(s):  
Pawel Gajdzis ◽  
Gaëlle Pierron ◽  
Jerzy Klijanienko
Keyword(s):  
Soft Tissue ◽  
Ewing Sarcoma ◽  
Genetic Alterations ◽  
Gene Fusions ◽  
Round Cell ◽  
Ets Transcription Factors ◽  
Myxoid Stroma ◽  
Spindle Cells ◽  
Round Cell Tumors ◽  
Ancillary Studies

<b><i>Background:</i></b> Undifferentiated round-cell sarcomas (URCSs) of soft tissue and bone are a group of clinically heterogeneous tumors. Diagnosis of these malignancies is based mainly on recurrent genetic alterations. The most common and the best known representative of this group is Ewing sarcoma (ES) which is characterized by gene fusions including EWSR1 or FUS and ETS transcription factors family. Other newly described entities are CIC-rearranged sarcoma, sarcoma with BCOR genetic alterations, and round-cell sarcoma with EWSR1-non-ETS fusions. All these novel tumors are known as Ewing-like sarcomas. <b><i>Summary:</i></b> It is believed that morphologic features of ES and Ewing-like sarcomas vary only slightly or even that cytomorphology is not relevant. But differences are usually obvious, and some cytologic findings, such as spindle cells, connective tissue fragments, or myxoid stroma, are typical for Ewing-like sarcomas but not for ES. Each of these entities is also characterized by different immunoprofiles. The aim of this review was to summarize cytomorphologic and immunohistochemical features of URCS and compare them with other small round-cell tumors. <b><i>Key Messages:</i></b> Cytology can be successfully used in URCS diagnosis as a complementary tool for core-needle biopsy or even alone in selected cases, especially in recurrent and metastatic tumors. Knowing the morphologic and immunohistochemical differences between URCS is essential to provide appropriate ancillary studies and make a definitive diagnosis.

Fine-Needle Aspiration Features of BCOR-CCNB3 Sarcoma

2019 ◽  
Author(s):  
Pawel Gajdzis ◽  
Marick Laé ◽  
Gaëlle Pierron ◽  
Hervé J Brisse ◽  
Daniel Orbach ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Fine Needle Aspiration ◽  
Ewing Sarcoma ◽  
Gene Fusion ◽  
Needle Aspiration ◽  
Round Cell ◽  
Fine Needle ◽  
Spindle Cells ◽  
Molecular Studies ◽  
Round Cell Tumors

Abstract Objectives BCOR-CCNB3 sarcoma (BCS) is an undifferentiated tumor that has some clinical and morphologic similarity to classic Ewing sarcoma, but it is characterized by a distinct BCOR-CCNB3 gene fusion. There are no reports describing its cytomorphologic findings. Methods We describe cytologic findings of five molecularly proven BCS cases (four males and one female, aged 8.5-22 years). Results Smears showed mainly round cells, but some spindle cells and rhabdoid-like cells were also observed. Dispersed cells dominated in smears, but also distinct pseudopapillary structures with vascular cores were noted in four cases. Scant connective tissue fragments were found in four cases. There was no rosette formation in any case. Conclusions BCS should be differentiated from other round cell tumors. Some cytologic features, especially rhabdoid-like cells, connective tissue fragments, and pseudopapillary formations, combined with immunohistochemical and molecular studies, may be helpful in making the appropriate diagnosis.

A CASE REPORT OF A YOUNG MAN WITH ABDOMINAL MASS: HUNT FOR DIAGNOSIS

2021 ◽  
pp. 55-56
Author(s):  
K Pratyusha ◽  
Satish Arakeri ◽  
Surekha Arakeri
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Liver Abscess ◽  
Ewing Sarcoma ◽  
Abdominal Mass ◽  
Histopathological Study ◽  
Round Cell ◽  
Small Round Cell ◽  
Malignant Soft Tissue Tumor ◽  
Extraskeletal Ewing Sarcoma

Introduction: Extraskeletal Ewing sarcoma/PNET is a small round cell sarcoma showing gene fusions of EWSR1-FLI1. A 28-year-old male patient presented with right ank pain and low gr Case Report: ade fever since 15 days. On examination: a mass was palpable in the right hypochondrium. Provisional diagnosis of Liver abscess has been made. USG abdomen shows features cystic lesion in the liver with internal septation ?Liver abscess /Hydatid cyst. Intraoperatively, tumor was seen attached to upper pole of kidney. Since tumor was large, it was ruptured intraoperatively and debulking surgery has been done. Under microscopy, tumor was arranged in sheets with intervening stroma showing desmoplastic reaction. Perivascular pseudorosettes are seen. The diagnosis of malignant small round cell tumor has been given. On immunohistochemistry, tumor cells are positive for Vimentin, CD99, NKX2.2 , FLI1, Neurolaments, Synaptophysin with focal immunoreactivity for EMA, Pancytokeratin. Final diagnosis was EXTRASKELETAL EWING SARCOMA/PNET. Discussion: Extra-skeletal Ewing sarcoma/PNET is malignant soft tissue tumor seen in chest wall, thigh, paravertebal region etc. Retroperitoneum is a least common site. Most common presentation is swelling in the soft tissue with compressive symptoms. Histologically, it is composed of undifferentiated small round cells. Conclusion: Clinical examination and radiological ndings leads to ambiguous diagnosis in Ewing sarcoma/PNET. Hence proper histopathological study is essential for nal diagnosis.

Intramedullary Ewing sarcoma of the spinal cord: consequences of molecular diagnostics

2001 ◽  
Vol 95 (2) ◽  
pp. 270-275 ◽  
Author(s):  
Robert J. Weil ◽  
Zhengping Zhuang ◽  
Svetlana Pack ◽  
Shimareet Kumar ◽  
Lee Helman ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Ewing Sarcoma ◽  
Unusual Case ◽  
Modern Medicine ◽  
Round Cell ◽  
Intramedullary Spinal Cord ◽  
Content Type ◽  
Small Round Cell ◽  
Neuroectodermal Tumors ◽  
Round Cell Tumors

✓ Molecular biological techniques have begun to transform modern medicine. These techniques have shown promise in the pathological diagnosis of difficult or uncommon tumors. Accurate molecular diagnosis of the small round-cell tumors, for example, is especially important because divergent therapies may be required to eradicate such disparate lesions as neuroblastoma, lymphoma, rhabdomyosarcoma, central primitive neuroectodermal tumors/medulloblastoma, or Ewing sarcoma (ES). The authors present an unusual case of a primary, extraosseous ES arising from the intramedullary spinal cord, in which molecular studies were required for specific diagnosis and therapeutic guidance.

scholarly journals Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors

Science ◽  
2018 ◽  
Vol 361 (6405) ◽  
pp. eaam8419 ◽  
Author(s):  
Nathaniel D. Anderson ◽  
Richard de Borja ◽  
Matthew D. Young ◽  
Fabio Fuligni ◽  
Andrej Rosic ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Ewing Sarcoma ◽  
Rna Binding ◽  
Fusion Gene ◽  
Soft Tissue Tumors ◽  
Gene Fusions ◽  
Gene Encoding ◽  
Reciprocal Translocations ◽  
Whole Genomes ◽  
Genomic Regions

Sarcomas are cancers of the bone and soft tissue often defined by gene fusions. Ewing sarcoma involves fusions between EWSR1, a gene encoding an RNA binding protein, and E26 transformation-specific (ETS) transcription factors. We explored how and when EWSR1-ETS fusions arise by studying the whole genomes of Ewing sarcomas. In 52 of 124 (42%) of tumors, the fusion gene arises by a sudden burst of complex, loop-like rearrangements, a process called chromoplexy, rather than by simple reciprocal translocations. These loops always contained the disease-defining fusion at the center, but they disrupted multiple additional genes. The loops occurred preferentially in early replicating and transcriptionally active genomic regions. Similar loops forming canonical fusions were found in three other sarcoma types. Chromoplexy-generated fusions appear to be associated with an aggressive form of Ewing sarcoma. These loops arise early, giving rise to both primary and relapse Ewing sarcoma tumors, which can continue to evolve in parallel.

scholarly journals EWSR1 Rearrangement and CD99 Expression as Diagnostic Biomarkers for Ewing/PNET Sarcomas in a Moroccan Population

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Sara Louati ◽  
Nadia Senhaji ◽  
Laila Chbani ◽  
Sanae Bennis
Keyword(s):  
Differential Diagnosis ◽  
Sensitivity And Specificity ◽  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Neuroectodermal Tumor ◽  
Fish Analysis ◽  
Round Cell ◽  
Diagnostic Biomarkers ◽  
Moroccan Population ◽  
Round Cell Tumors

Ewing sarcoma/primitive neuroectodermal tumor (Ewing/PNET sarcomas or EPS) are a group of round cell tumors. Malignant round cell tumors form a large and diverse group that includes rhabdomyosarcoma, synovial sarcoma, non-Hodgkin’s lymphoma, neuroblastoma, hepatoblastoma, Wilm’s tumor, desmoplastic small round cell tumor, and other morphologically similar entities. Differential diagnosis of Ewing sarcoma/primitive neuroectodermal tumor (Ewing/PNET sarcomas or EPS) is difficult. In addition to morphology and immunohistochemistry (IHC), differential diagnosis of these tumors is based on molecular analysis of the EWSR1 gene rearrangement using fluorescent in situ hybridization (FISH) technique. We investigated the diagnostic value of combined CD99 immunostaining and EWSR1 t(22q12) alteration using a dual-color, break-apart rearrangement probe in forty-one formalin-fixed paraffin-embedded (FFPE) tissue samples from pediatric and adult patients diagnosed with EPS. IHC was performed in all cases using the CD99 antibody and showed a positivity of 92.7% in the enrolled cases (38/41) followed by FISH analysis where 48.8% of the cases (20/41) were rearranged. Sensitivity and specificity for IHC assays were 88% and 58%, respectively. Notably, FISH had a sensitivity of 100% and a specificity of 87%. In addition, CD99 positivity was found to correlate with EWSR1 rearrangement (p<0.05). This report shows that FISH has better sensitivity and specificity than IHC in the Moroccan population, and supports its combination with CD99 immunostaining as diagnostic biomarkers for this rare malignant entity.”

Cytologic and Immunophenotypic Features of Malignant Cells in Pediatric Body Fluids

2015 ◽  
Vol 59 (4) ◽  
pp. 332-338 ◽  
Author(s):  
Atif A. Ahmed ◽  
Nevene Andraws ◽  
Ahmed M. Almutairi ◽  
Hesham M. Saied ◽  
Asim M. Elbagir-Mohamed
Keyword(s):  
Correct Diagnosis ◽  
Clinical History ◽  
Hematologic Malignancies ◽  
Body Fluids ◽  
Malignant Cells ◽  
Round Cell ◽  
Small Round Cell ◽  
Round Cell Tumors ◽  
Ancillary Studies ◽  
Difficult Cases

Objective: Cytospin preparations and immunocytochemistry are common methods in hospitals to evaluate malignancies in body fluids. Characteristics of malignant cells in pediatric body fluids have not been adequately evaluated. Study Design: 183 pleural, peritoneal and pericardial pediatric fluid specimens were examined by cytospin preparations and immunocytochemistry from two hospitals using similar procedural techniques. Cytologic diagnoses were correlated with the results of clinical history, histology and ancillary studies. Results: Forty cases with malignancy were identified (21.9%); the most common diagnoses were rhabdomyosarcoma and acute lymphoblastic lymphoma (9 and 8 cases, respectively). Small round cell tumors revealed similar morphology as clusters of small round cells with central nuclei and scant cytoplasm with frequent small vacuoles. Twenty-one cases were evaluated by immunocytochemistry, 12 by flow cytometry and 5 by cytogenetic analysis. CD3, CD20, TdT, CD10, desmin and myogenin were the most common markers. Staining artifacts causing interpretation difficulties were noted in 5 cases that were resolved by molecular studies and deferral for surgical specimens. Conclusions: Small round cell tumors are the most common malignancies encountered in pediatric body fluids and share a nonspecific morphology. Although immunocytochemistry is helpful to arrive at the correct diagnosis, other ancillary studies may be necessary, particularly in hematologic malignancies and other difficult cases.

Rhabdomyosarcoma, Ewing Sarcoma, and Other Round Cell Sarcomas

2018 ◽  
Vol 36 (2) ◽  
pp. 168-179 ◽  
Author(s):  
Alberto S. Pappo ◽  
Uta Dirksen
Keyword(s):  
Ewing Sarcoma ◽  
Therapeutic Targets ◽  
Genomic Rearrangements ◽  
Round Cell ◽  
Tumor Subtypes ◽  
Specific Tumor ◽  
Genomic Characterization ◽  
Round Cell Tumors ◽  
Made In

Several recent advances have been made in the diagnosis and therapy of malignant small round cell tumors that affect children, particularly in rhabdomyosarcoma, Ewing sarcoma, and other round cell sarcomas. These advances have provided new insights into the pathologic, histologic, and genomic characterization of specific tumor subtypes, which has led to the identification of novel therapeutic targets and improved stratification of risk. This has, in turn, led to improved efficacy in clinical trials of new drug combinations, thereby increasing the survival of patients with newly diagnosed and refractory or recurrent round cell sarcomas. Here, we review the progress that has been made using genomics to identify novel pathologic genomic rearrangements, as well as therapeutic targets. We also describe how clinical and molecular factors have helped refine risk stratification and therapies that have led to improved clinical outcomes in patients with round cell sarcomas.

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