948 Transcriptome Analysis and Theranostic Profiling of Ewing Sarcoma (ES) and Desmoplastic Small Round Cell Tumours (DSRCT)

2012 ◽  
Vol 48 ◽  
pp. S228
Author(s):  
W.H. Wen ◽  
A. Ghazalpour ◽  
S. Chen ◽  
B. Rhees ◽  
M.J. McGinniss ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Transcriptome Analysis ◽  
Round Cell ◽  
Small Round Cell

Theranostic profiling of Ewing sarcoma (ES) and desmoplastic small round cell tumors (DSRCT).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e20507-e20507
Author(s):  
Wenhsiang Wen ◽  
Sting Chen ◽  
Anatole Ghazalpour ◽  
Brian Rhees ◽  
Matthew Jerome McGinniss ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Stem Cell ◽  
Dna Replication ◽  
Ewing Sarcoma ◽  
Transcriptome Analysis ◽  
Reference Sample ◽  
Stem Cell Marker ◽  
Round Cell ◽  
Small Round Cell ◽  
Multimodality Test

e20507 Background: Ewing Sarcoma (ES)/PNET and Desmoplastic Small Round Cell Tumor (DSRCT) are sarcomas with distinct chromosomal translocations involving the EWS gene (predominately EWS-FLI1 and EWS-WT1; respectively). Their diagnosis and treatment has been difficult due to the rarity, diverse clinical presentation, overlapping histologic features and genetic complexity (Taylor BS et al, 2011). Therefore, novel approaches in clinical management are warranted. Methods: Seventeen cases (9 ES and 8 DSRCT) were analyzed using a commercial molecular profiling service (CarisTargetNow, Caris Life Sciences, Phoenix, AZ). The whole genome transcriptome analysis (29285 transcripts) was performed using HumanHT-12 beadChip (Illuminia Inc, San Diego, CA) and comparison to pooled soft tissue reference sample. Additionally, a select number of chemotherapy-predictive (theranostic) biomarkers were evaluated using immunohistochemistry, FISH, and DNA sequencing. Results: We observed 160 commonly up and 357 commonly down regulated genes between ES and DSRCT in transcriptome analysis. Cell cycle signaling, DNA replication and E2F mediated pathway genes were most commonly up regulated. In addition, higher expression of SOX-2, a recently identified cancer stem cell marker (Riggi et al, 2010), were observed in DSRCT than in ES, suggesting EWS-WT1 translocation might result in reprogramming of DSRCT to express cancer stem cells. Above threshold expression of TOP2A and TOPO1was observed in approximately 50% of all cases. Additional theranostic biomarkers (ERCC1, TS, SPARC and MGMT) showed significant inter-individual variations. No KRAS mutations or EGFR gene amplification were observed in any case. Conclusions: 1. Our transcriptome analyses might provide future therapeutic targets in cell cycle regulation, DNA replication, receptor TKI pathways and stem cell reprogramming. 2. Using multimodality test approaches, we confirmed and refined the benefits in both tumor types of individualized therapeutic assessment including predicted susceptibilities to anthracycline, irinotecan, platinum analogs, fluorouracil, and temozolomide.

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 Primitive Neuroectodermal Tumor/Ewing Sarcoma Presenting with Pulmonary Nodular Lesions

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Selvi Asker ◽  
Fuat Sayir ◽  
Gulay Bulut ◽  
Aysel Sunnetcioglu ◽  
Selami Ekin ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Pulmonary Nodules ◽  
Lung Parenchyma ◽  
Round Cell ◽  
X Ray ◽  
Small Round Cell ◽  
Neuroectodermal Tumors ◽  
Chest X Ray ◽  
Nodular Lesions

Primitive neuroectodermal tumors (PNETs) and Ewing sarcoma (EWS) belong to the same family of malignant, small, round cell neoplasms of soft tissue or bone origin. EWS-PNETs that arise in the lung parenchyma involvement are extremely rare in adults. A case of a 32-year-old male presenting with chest pain and diffuse pulmonary nodules on chest X-ray and diagnosed with Ewing sarcoma-PNETs will be presented here.

scholarly journals Common Pitfalls in Ewing Sarcoma and Desmoplastic Small Round Cell Tumor Diagnosis Seen in a Study of 115 Cases

2021 ◽  
Vol 9 (4) ◽  
pp. 62
Author(s):  
Nikolaos A. Trikalinos ◽  
John S. A. Chrisinger ◽  
Brian A. Van Tine
Keyword(s):  
Ewing Sarcoma ◽  
Tumor Location ◽  
Neuroendocrine Neoplasms ◽  
Round Cell ◽  
Contributing Factors ◽  
Small Round Cell ◽  
Diagnostic Pitfall ◽  
Inappropriate Treatment ◽  
Tertiary Center ◽  
Tumor Types

Ewing sarcoma (ES), “Ewing-like sarcoma” (ELS) and desmoplastic small round cell tumors (DSRCT) can masquerade as other tumor types, particularly neuroendocrine neoplasms and receive inappropriate treatment. We retrieved 115 cases of ES, ELS and DSRCT seen over 17 years in a tertiary center. An initial misdiagnosis or incomplete diagnosis occurred in 6/93 (6.4%) of ES/ELS and 5/22 (22.7%) of DSRCT cases. The most frequent misdiagnosis was small cell neuroendocrine carcinoma. While any misdiagnosis or incomplete classification is almost certainly multifactorial, the most common identified reason for erroneous/incomplete initial reporting was expression of neuroendocrine markers. Other contributing factors included keratin expression, older patient age and apparently unusual tumor location. Most patients treated with a non-sarcoma chemotherapy regimen expired, while those who received a sarcoma-related regimen were alive as of last evaluation. Increased awareness of this diagnostic pitfall is needed in evaluating cases of round cell malignancies.

scholarly journals High Specificity of BCL11B and GLG1 for EWSR1-FLI1 and EWSR1-ERG Positive Ewing Sarcoma

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 644 ◽  
Author(s):  
Martin F. Orth ◽  
Tilman L.B. Hölting ◽  
Marlene Dallmayer ◽  
Fabienne S. Wehweck ◽  
Tanja Paul ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
High Specificity ◽  
Tissue Microarrays ◽  
Differential Diagnoses ◽  
Round Cell ◽  
Small Round Cell ◽  
Patient Derived Xenograft ◽  
Aggressive Cancer ◽  
Ihc Markers ◽  
Independent Cohort

Ewing sarcoma (EwS) is an aggressive cancer displaying an undifferentiated small-round-cell histomorphology that can be easily confused with a broad spectrum of differential diagnoses. Using comparative transcriptomics and immunohistochemistry (IHC), we previously identified BCL11B and GLG1 as potential specific auxiliary IHC markers for EWSR1-FLI1-positive EwS. Herein, we aimed at validating the specificity of both markers in a far larger and independent cohort of EwS (including EWSR1-ERG-positive cases) and differential diagnoses. Furthermore, we evaluated their intra-tumoral expression heterogeneity. Thus, we stained tissue microarrays from 133 molecularly confirmed EwS cases and 320 samples from morphological mimics, as well as a series of patient-derived xenograft (PDX) models for BCL11B, GLG1, and CD99, and systematically assessed the immunoreactivity and optimal cut-offs for each marker. These analyses demonstrated that high BCL11B and/or GLG1 immunoreactivity in CD99-positive cases had a specificity of 97.5% and an accuracy of 87.4% for diagnosing EwS solely by IHC, and that the markers were expressed by EWSR1-ERG-positive EwS. Only little intra-tumoral heterogeneity in immunoreactivity was observed for differential diagnoses. These results indicate that BCL11B and GLG1 may help as specific auxiliary IHC markers in diagnosing EwS in conjunction with CD99, especially if confirmatory molecular diagnostics are not available.

A Review of Effusion Cytomorphology of Small Round Cell Tumors

2021 ◽  
pp. 1-11
Author(s):  
Lucy M. Han ◽  
Christopher J. VandenBussche ◽  
Mads Abildtrup ◽  
Ashish Chandra ◽  
Poonam Vohra
Keyword(s):  
Skeletal Muscle ◽  
Synovial Sarcoma ◽  
Ewing Sarcoma ◽  
Abdominal Mass ◽  
Neuroendocrine Differentiation ◽  
Malignant Cells ◽  
Round Cell ◽  
Small Round Cell ◽  
Mesenchymal Neoplasm ◽  
Round Cell Tumors

<b><i>Background:</i></b> Small round cell tumors (SRCTs) are a broad category of diverse malignant tumors composed of monotonous undifferentiated cells. Involvement of serous fluids by SRCT is rare; however, the identification of exfoliated malignant cells is a crucial component of management and has significant implications for treatment and prognosis. The most common effusion tumors with SRCT morphology include Ewing sarcoma, synovial sarcoma, rhabdomyosarcoma (RMS), small-cell neuroendocrine carcinoma (SCNC), and desmoplastic SRCT, and the cytomorphologic distinction between these tumors is challenging. The purpose of this article is to describe the morphologic features of the most common SRCT in fluids and propose helpful ancillary testing. <b><i>Summary:</i></b> Effusion SRCTs display similar primitive and undifferentiated morphologic features although each has subtle variations. Ewing sarcoma is a mesenchymal neoplasm and harbors characteristic translocations t(11;22) (<i>EWSR1-FLI1</i>) or t(21;22) (<i>EWSR1-ERG</i>). In fluids, Ewing sarcoma shows poorly differentiated cells of variable size with round to oval nuclei, prominent nucleoli, and scant cytoplasm. In contrast, synovial sarcoma typically involves extremities and expresses a fusion transcript in t(X;18) (<i>SS18-SSX</i>). This soft tissue neoplasm demonstrates uniform cells with irregular nuclear contours, characteristic nuclear folding, and scant cytoplasm. RMS is a neoplasm arising from skeletal muscle, and the alveolar subtype demonstrates a translocation in t(2;13) (<i>PAX3-FOXO1</i>). The malignant cells show a spectrum of small round cells and pleomorphic large cells with rhabdoid morphology. RMS cells characteristically express myogenin and MyoD1, markers of skeletal muscle differentiation. Although SCNC is not a classic SRCT, the morphology is similar. SCNC demonstrates tight clusters of malignant cells with nuclear molding and salt-and-pepper chromatin. This tumor classically has neuroendocrine differentiation and is positive for synaptophysin and chromogranin on immunohistochemistry. And last, desmoplastic SRCT typically presents as an intra-abdominal mass in young men and characteristically harbors the translocation t(11;22) (p13;q12) (<i>EWSR1-WT1</i>). Cytomorphologically, the tumor shows small monomorphic cells occasionally arranged as rosette-like structures. <b><i>Key Message:</i></b> The diagnosis of SRCT can be made in effusion samples and is best achieved with a combination of morphologic features, clinical history, and ancillary testing.

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