SMARCB1/INI1 Protein Expression in Round Cell Soft Tissue Sarcomas Associated With Chromosomal Translocations Involving EWS: A Special Reference to SMARCB1/INI1 Negative Variant Extraskeletal Myxoid Chondrosarcoma

2008 ◽  
Vol 32 (8) ◽  
pp. 1168-1174 ◽  
Author(s):  
Kenichi Kohashi ◽  
Yoshinao Oda ◽  
Hidetaka Yamamoto ◽  
Sadafumi Tamiya ◽  
Yumi Oshiro ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Protein Expression ◽  
Special Reference ◽  
Soft Tissue Sarcomas ◽  
Chromosomal Translocations ◽  
Round Cell ◽  
Extraskeletal Myxoid Chondrosarcoma ◽  
Myxoid Chondrosarcoma

scholarly journals Toward a Personalized Therapy in Soft-Tissue Sarcomas: State of the Art and Future Directions

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2359
Author(s):  
Liliana Montella ◽  
Lucia Altucci ◽  
Federica Sarno ◽  
Carlo Buonerba ◽  
Stefano De Simone ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Chromosomal Translocations ◽  
Intrinsic Variability ◽  
Poor Survival ◽  
Genomic Alterations ◽  
Future Directions ◽  
Oncogenic Mutations ◽  
Targeted Treatments ◽  
Innovative Therapies

Soft-tissue sarcomas are rare tumors characterized by pathogenetic, morphological, and clinical intrinsic variability. Median survival of patients with advanced tumors are usually chemo- and radio-resistant, and standard treatments yield low response rates and poor survival results. The identification of defined genomic alterations in sarcoma could represent the premise for targeted treatments. Summarizing, soft-tissue sarcomas can be differentiated into histotypes with reciprocal chromosomal translocations, with defined oncogenic mutations and complex karyotypes. If the latter are improbably approached with targeted treatments, many suggest that innovative therapies interfering with the identified fusion oncoproteins and altered pathways could be potentially resolutive. In most cases, the characteristic genetic signature is discouragingly defined as “undruggable”, which poses a challenge for the development of novel pharmacological approaches. In this review, a summary of genomic alterations recognized in most common soft-tissue sarcoma is reported together with current and future therapeutic opportunities.

scholarly journals DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations

2020 ◽  
Vol 21 (5) ◽  
pp. 1818 ◽  
Author(s):  
Evelina Miele ◽  
Rita De Vito ◽  
Andrea Ciolfi ◽  
Lucia Pedace ◽  
Ida Russo ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Soft Tissue ◽  
Abdominal Wall ◽  
Current Knowledge ◽  
Soft Tissue Sarcomas ◽  
Molecular Techniques ◽  
Round Cell ◽  
Undifferentiated Sarcoma ◽  
Dna Methylation Profiling ◽  
Methylation Profiling

Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array-based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12-year-old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro-nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease-free and in good clinical condition. To put our experience in context, we conducted a literature review, analyzing current knowledge and state-of-the-art diagnosis, prognosis, and clinical management of CIC rearranged sarcomas. Our findings further support the use of DNA methylation profiling as an important tool to improve diagnosis of non-Ewing small round cell tumors.

scholarly journals Extraskeletal Chondrosarcoma of Labium Majus

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Arshad S. Khan ◽  
Girish D. Bakhshi ◽  
Aftab Shaikh ◽  
Ashraf A. Khan ◽  
Adil A. Khan ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Adjuvant Therapy ◽  
Indian Subcontinent ◽  
Rare Tumor ◽  
Extraskeletal Myxoid Chondrosarcoma ◽  
Postoperative Course ◽  
The Third ◽  
Myxoid Chondrosarcoma ◽  
Soft Tissue Swelling ◽  
Labium Majus

Extraskeletal myxoid chondrosarcoma (ESMC) is a rare tumor seen more often in men. It is seen to arise from soft tissue of lower extremity or buttocks. We report a case of soft tissue swelling of left labium majus in a 66-year-old female. Patient underwent wide excision with uneventful postoperative course. Histopathology of specimen confirmed it to be ESMC. Patient refused adjuvant therapy. Followup of 1 year has shown her to be disease- and symptom- free. Only two cases arising from vulva have been reported in literature . This is the third case and first from Indian subcontinent. A brief review of clinical features, diagnosis, treatment, and outcome of patients with extraskeletal chondrosarcoma is presented.

scholarly journals Endosialin and Associated Protein Expression in Soft Tissue Sarcomas: A Potential Target for Anti-Endosialin Therapeutic Strategies

Sarcoma ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Daniel J. O’Shannessy ◽  
Hongyue Dai ◽  
Melissa Mitchell ◽  
Shane Huntsman ◽  
Stephen Brantley ◽  
...  
Keyword(s):  
Gene Expression ◽  
Soft Tissue ◽  
Protein Expression ◽  
Soft Tissue Sarcomas ◽  
Tissue Expression ◽  
Tissue Type ◽  
Expression Data ◽  
Interacting Protein ◽  
Undifferentiated Sarcoma ◽  
Tumor Types

Endosialin (CD248, TEM-1) is expressed in pericytes, tumor vasculature, tumor fibroblasts, and some tumor cells, including sarcomas, with limited normal tissue expression, and appears to play a key role in tumor-stromal interactions, including angiogenesis. Monoclonal antibodies targeting endosialin have entered clinical trials, including soft tissue sarcomas. We evaluated a cohort of 94 soft tissue sarcoma samples to assess the correlation between gene expression and protein expression by immunohistochemistry for endosialin and PDGFR-β, a reported interacting protein, across available diagnoses. Correlations between the expression of endosialin and 13 other genes of interest were also examined. Within cohorts of soft tissue diagnoses assembled by tissue type (liposarcoma, leiomyosarcoma, undifferentiated sarcoma, and other), endosialin expression was significantly correlated with a better outcome. Endosialin expression was highest in liposarcomas and lowest in leiomyosarcomas. A robust correlation between protein and gene expression data for both endosialin and PDGFR-βwas observed. Endosialin expression positively correlated with PDGFR-βand heparin sulphate proteoglycan 2 and negatively correlated with carbonic anhydrase IX. Endosialin likely interacts with a network of extracellular and hypoxia activated proteins in sarcomas and other tumor types. Since expression does vary across histologic groups, endosialin may represent a selective target in soft tissue sarcomas.

Determination of Chromosomal Translocations in Soft Tissue Sarcomas: A Worthwhile Undertaking

2008 ◽  
Vol 13 (2) ◽  
pp. 57-64
Author(s):  
Kevin B. Jones ◽  
Peter C. Ferguson ◽  
Rita Kandel ◽  
Jay S. Wunder
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Chromosomal Translocations

scholarly journals Primary Extraskeletal Myxoid Chondrosarcoma: A Case Report

2021 ◽  
Author(s):  
Renuka Bangalore Nagaraj ◽  
Arshiya Sultana
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Histopathological Examination ◽  
Matrix Material ◽  
Needle Aspiration ◽  
Extraskeletal Myxoid Chondrosarcoma ◽  
Soft Tissue Neoplasm ◽  
Rare Tumour ◽  
Myxoid Chondrosarcoma ◽  
Malignant Soft Tissue

Extraskeletal Myxoid Chondrosarcoma (EMC) is a rare malignant soft tissue sarcoma with uncertain differentiation, most often seen in males. The incidence is 3% of all soft tissue tumours with limited literature available on its cytological features. EMC may arise from lower extremities, upper extremities, retroperitoneum, pelvis, and buttocks. This case report was an effort to understand the role of Fine Needle Aspiration Cytology (FNAC), histopathology and immunochemistry in the diagnosis of EMC. Authors hereby report a case of a 70-year-old male patient with slow-growing soft tissue swelling on the back just behind the right shoulder who was referred for FNAC. Patient complete history and clinical findings were recorded. Radiological images were suggestive of malignant soft tissue neoplasm with no involvement of underlining bone. FNAC reveled tumour cells which appeared monotonous and they were seen in a myxoid stroma background. Subsequently, the excised lesion was sent for histopathological examination and the report revealed the presence of abundant chondromyxoid matrix material within which were found numerous elongated spindly shaped cells. These cells had moderately pleomorphic elongated nuclei with focal solid fibrocollagenous areas along intersecting fascicles of the moderately pleomorphic spindly cell. Few of these cells had multilobulated bizarre nuclei with nuclear inclusions. Immunohistochemical stains showed diffuse positivity for S-100, vimentin, and focally positive for Epithelial Membrane Antigen (EMA). The FNAC, histopathology and immunohistochemical features confirm the diagnosis of EMC on right shoulder. It’s a rare tumour whose diagnosis is made depending on history, clinical location, growth pattern, histopathology, and immunohistochemistry.

Soft-Tissue Sarcomas

2020 ◽  
pp. 206-218
Author(s):  
Gianni Bisogno ◽  
Hans Merks
Keyword(s):  
Soft Tissue ◽  
Treatment Strategies ◽  
Soft Tissue Sarcomas ◽  
Mesenchymal Cells ◽  
Round Cell ◽  
Adult Type ◽  
Rhabdoid Tumour ◽  
Small Round Cell ◽  
Synovial Sarcomas ◽  
Small Round Cell Tumour

This chapter discusses soft-tissue sarcomas (STS) in children and adolescents, which comprise approximately 8% of all paediatric malignancies. It highlights the clinical, pathological, and biological characteristics of this heterogeneous group of tumors derived from mesenchymal cells, and it describes the current management and the treatment results. The first part of the chapter is dedicated to the most frequent paediatric STS, rhabdomyosarcomas (RMS), while the second part covers the diagnosis and treatment strategies for non-rhabdomyosarcoma STS (NRSTS) including synovial sarcomas (SS), adult-type NRSTS, and other histotypes (infantile fibrosarcoma (IFS), desmoplastic small round-cell tumour (DSRCT), and malignant rhabdoid tumour (MRT)).

Immunohistochemical Profile of MYC Protein in Pediatric Small Round Blue Cell Tumors

2017 ◽  
Vol 20 (3) ◽  
pp. 213-223 ◽  
Author(s):  
Karen M Chisholm ◽  
Chandra Krishnan ◽  
Amy Heerema-McKenney ◽  
Yasodha Natkunam
Keyword(s):  
Protein Expression ◽  
Protein C ◽  
Wilms Tumor ◽  
Soft Tissue Sarcomas ◽  
Tissue Microarrays ◽  
Round Cell ◽  
Poor Prognostic Factor ◽  
Variable Expression ◽  
Not Otherwise Specified ◽  
Blue Cell

Deregulation of MYC oncoprotein in cancers can result from multiple oncogenic mechanisms. Although MYC translocations define Burkitt lymphoma and MYC protein expression is a poor prognostic factor in undifferentiated neuroblastomas, the distribution of MYC protein (c-MYC) across other pediatric small round blue cell tumors (SRBCT) has not been well characterized. We undertook this study to assess MYC protein expression in a large cohort of pediatric lymphomas, sarcomas, and other SRBCT. Tissue microarrays containing 302 SRBCT were successfully evaluated by immunohistochemistry using anti-MYC clone Y69, with nuclear positivity scored as 0%, 1%–25%, 26%–50%, 51%–75%, or 76%–100%. MYC protein staining of >50% of lesional cells was identified in 60% of Burkitt lymphomas, 50% of B lymphoblastic lymphomas, 33% of T lymphoblastic lymphomas, 31% of rhabdomyosarcomas, 33% of Ewing sarcomas, and 25% of soft tissue sarcomas, not otherwise specified. Only 14% of neuroblastomas showed >50% staining, and of these, if known, MYCN was not amplified. No cases of Wilms tumor, synovial sarcoma, or desmoplastic small round cell tumor had >50% staining. Recurrences and metastases often had the same percentage of MYC staining (15/30). In conclusion, MYC protein exhibited variable expression across and within pediatric SRBCT subtypes. Overall, these findings provide a baseline for MYC expression in pediatric SRBCT and suggest that there may be multiple mechanisms of MYC upregulation in these different neoplasms.

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