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.

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

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 Myeloablative Chemotherapy with Autologous Stem Cell Transplant for Desmoplastic Small Round Cell Tumor

Sarcoma ◽  
2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Christopher J. Forlenza ◽  
Brian H. Kushner ◽  
Nancy Kernan ◽  
Farid Boulad ◽  
Heather Magnan ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplant ◽  
Autologous Stem Cell Transplant ◽  
Cell Tumor ◽  
Cell Transplant ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Myeloablative Chemotherapy

Desmoplastic small round cell tumor (DSRCT), a rare, aggressive neoplasm, has a poor prognosis. In this prospective study, we evaluated the role of myeloablative chemotherapy, followed by autologous stem cell transplant in improving survival in DSRCT. After high-dose induction chemotherapy and surgery, 19 patients with chemoresponsive DSRCT underwent autologous stem cell transplant. Myeloablative chemotherapy consisted of carboplatin (400–700 mg/m2/day for 3 days) + thiotepa (300 mg/m2/day for 3 days) ± topotecan (2 mg/m2/day for 5 days). All patients were engrafted and there was no treatment-related mortality. Seventeen patients received radiotherapy to sites of prior or residual disease at a median of 12 weeks after transplant. Five-year event-free and overall survival were 11 ± 7% and 16 ± 8%, respectively. Two patients survive disease-free 16 and 19 years after transplant (both in complete remission before transplant). 14 patients had progression and died of disease at a median of 18 months following autologous transplant. These data do not justify the use of myeloablative chemotherapy with carboplatin plus thiotepa in patients with DSRCT. Alternative therapies should be considered for this aggressive neoplasm.

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 The adult stem cell marker Musashi-1 modulates endometrial carcinoma cell cycle progression and apoptosisviaNotch-1 and p21WAF1/CIP1

2011 ◽  
Vol 129 (8) ◽  
pp. 2042-2049 ◽  
Author(s):  
Martin Götte ◽  
Burkhard Greve ◽  
Reinhard Kelsch ◽  
Heike Müller-Uthoff ◽  
Kristin Weiss ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Stem Cell ◽  
Endometrial Carcinoma ◽  
Cell Cycle Progression ◽  
Carcinoma Cell ◽  
Adult Stem Cell ◽  
Stem Cell Marker ◽  
Cell Marker ◽  
Cycle Progression ◽  
Endometrial Carcinoma Cell
Sign in / Sign up

Export Citation Format

Share Document