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Genes Chromosomes Cancer ; 63(1): e23215, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38050902

ABSTRACT

Undifferentiated sarcomas characterized by a primitive monomorphic round to spindle cell phenotype and often non-specific immunoprofile remain difficult to subclassify outside molecular analysis. The increased application of RNA sequencing in clinical practice led to significant advances and discoveries of novel gene fusions that furthered our understanding and refined classification of otherwise undifferentiated neoplasms. In this study, we report an undifferentiated round to spindle cell sarcoma arising in the femur of a 34-year-old female. The round to spindle tumor cells were arranged in short fascicles, with focal rosette formation, within a hyalinized stroma. The tumor immunoprofile included diffuse reactivity for CD99, SATB2, and TLE1 and patchy positivity for Cyclin D1, Keratin AE1/AE3, synaptophysin, and chromogranin. Other markers, such as EMA, SMA, desmin, S100, ERG, and WT1, were negative. Fluorescence in situ hybridization analysis for EWSR1 gene alterations showed a break-apart signal and targeted RNA sequencing revealed an EWSR1::SSX3 gene fusion. The patient received neoadjuvant chemotherapy followed by surgery and subsequently relapsed in less than a year with lung metastasis. Larger series are needed to determine if this fusion defines a novel subset of undifferentiated tumors or represents a genomic variant of already existing primitive round cell sarcoma categories, such as Ewing sarcoma or synovial sarcoma.


Subject(s)
Sarcoma, Ewing , Sarcoma , Soft Tissue Neoplasms , Female , Humans , Adult , In Situ Hybridization, Fluorescence , Sarcoma/genetics , Sarcoma/pathology , Sarcoma, Ewing/genetics , Sarcoma, Ewing/pathology , Transcription Factors/genetics , Soft Tissue Neoplasms/genetics , Gene Fusion , Biomarkers, Tumor/genetics , Oncogene Proteins, Fusion/genetics , RNA-Binding Protein EWS/genetics
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