Extraskeletal myxoid chondrosarcoma with a t(9;16)(q22;p11.2) resulting in a NR4A3-FUS fusion.
Academic Article
Case Study
-
- Overview
-
- Research
-
- Identity
-
- Additional Document Info
-
- View All
-
Overview
abstract
-
Extraskeletal myxoid chondrosarcoma (EMC) is a rare neoplasm characterized by rearrangement of NR4A3. A t(9;22)(q22;q12), creating a fusion protein of EWSR1 and NR4A3, has been reported as a unique, recurring translocation in most cases. Reported variant translocations have resulted in fusion of NR4A3 with three other genes: TAF15, TCF12, and TFG. We report a case of EMC in a 59-year-old man who presented with a 6-month history of an enlarging mass in the proximal right thigh. The karyotype of fresh tissue from tumor taken at incisional biopsy revealed a t(9;16)(q22;p11.2). There was no evidence of an EWSR1 rearrangement by dual-color break-apart fluorescence in situ hybridization (FISH). Dual-color FISH probes revealed fusion of NR4A3 and FUS, a member of the TET family of genes, which includes EWSR1 and TAF15. Break-apart FISH probe results confirmed rearrangement of FUS. These findings show that a fusion product of FUS and NR4A3 may be an additional pathway to development of EMC.Copyright © 2014 Elsevier Inc. All rights reserved.
publication date
published in
Research
keywords
-
Chondrosarcoma
-
Chromosomes, Human, Pair 16
-
Chromosomes, Human, Pair 9
-
Cytogenetics
-
DNA-Binding Proteins
-
Humans
-
In Situ Hybridization, Fluorescence
-
Male
-
Middle Aged
-
Neoplasms, Connective and Soft Tissue
-
Oncogene Proteins, Fusion
-
RNA-Binding Protein FUS
-
Receptors, Steroid
-
Receptors, Thyroid Hormone
-
Soft Tissue Neoplasms
-
Translocation, Genetic
Identity
Digital Object Identifier (DOI)
PubMed ID
Additional Document Info
start page
end page
volume
number