Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript.

6533b85cfe1ef96bd12bcba0

RESEARCH PRODUCT

Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript.

Samuel Navarro Carmen Carda Antonio Llombart-bosch Antonio Pellín Amando Peydro-olaya Rosa Noguera

subject

Male Adolescent Oncogene Proteins Fusion Chromosomes Human Pair 22 Transplantation Heterologous Mice Nude Soft Tissue Neoplasms Chromosomal rearrangement Sarcoma Ewing Biology Groin Translocation Genetic Pathology and Forensic Medicine Fusion gene Exon Mice Fatal Outcome medicine Tumor Cells Cultured Animals Humans Neuroectodermal Tumors Primitive Neoplasm Metastasis Molecular Biology Peripheral Primitive Neuroectodermal Tumor Reverse Transcriptase Polymerase Chain Reaction Cell Biology Exons medicine.disease Prognosis Combined Modality Therapy Neoplasm Proteins Fusion transcript Primitive neuroectodermal tumor Chromosomes Human Pair 2 Karyotyping Cancer research Disease Progression Sarcoma Clear cell

description

This study describes a new case of Ewing sarcoma (ES)-peripheral primitive neuroectodermal tumor (pPNET) with unusual phenotype and fusion gene structure. The tumor located in the inguinal area of a 15-year-old boy showed a highly aggressive behavior with hematogenous metastases after intensive chemotherapy and bone marrow transplant, causing death 28 months after diagnosis. The tumor displayed a clear cell pattern, and several neuroectodermal markers proved positive both in the original tumor and in xenografts. This neuroectodermal character was confirmed by electron microscopy. Moreover, cytogenetically the tumor has an unusual chromosomal rearrangement, t(2;22)(q13;q22,t(3;18)(p21;q23); representing a new EWS-FEV fusion type in which exon 7 of EWS gene is fused with exon 2 of FEV gene. This is the third published study of an ES-pPNET showing EWS-FEV fusion described, but it is the first study of a tumor with the aforementioned fusion points. These findings support the genetic and morphologic heterogeneity existing within the group of ES-pPNET tumors.

year	journal	country	edition	language
2000-09-08	Diagnostic molecular pathology : the American journal of surgical pathology, part B

10.1097/00019606-200009000-00003 https://pubmed.ncbi.nlm.nih.gov/10976720