A novel IRF2BP2:CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!. Issue 3 (13th December 2022)

• Record Type: Journal Article
• Authors: Patton, Ashley; Speeckaert, Amy; Zeltman, Micayla; Cui, Xiaoyan; Oghumu, Steve; Iwenofu, O. Hans
• Is Part Of: Genes, chromosomes & cancer. Volume 62:Issue 3(2023)
• Page Start: 176
• Page End: 183
• Publication Date: 2022-12-13
• Subjects: collision tumor -- digital intravascular location -- IRF2BP2::CDX2 gene fusion -- Masson tumor -- molecular genetics -- myoepithelioma of soft tissue; Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.23108
• Languages: English
• ISSNs: 1045-2257

Abstract

Abstract: Soft tissue myoepitheliomas (STM) are benign myoepithelial neoplasms (of nonsalivary gland origin) arising, most commonly within subcutaneous and deep soft tissues of the extremities and rarely within bones. To the best of our knowledge, the intravascular location of STM as well as the identification of a novel IRF2BP2::CDX2 fusion have not been previously reported. Herein, we report a case of spindle cell myoepithelioma arising within the intravascular space of the right index finger in a 52‐year‐old male of more than 20 years duration. Histopathology demonstrated an intravascular tumefactive lesion composed of predominantly plump banal spindle cells in a fascicular arrangement within a mixed collagenous and chondromyxoid stroma colliding with papillary endothelial hyperplasia (Masson tumor). By immunohistochemistry, the lesional cells were positive for keratin‐AE1/3, epithelial membrane antigen, S100, SOX10, glial fibrillary acid protein, calponin and negative for CD34, smooth muscle actin, desmin, p63, and ERG. Fluorescence in situ hybridization for EWSR1 gene rearrangement was negative. Next‐generation sequencing detected a novel IRF2BP2::CDX2 fusion involving Exon 1 of the IRF2BP2 gene and Exon 2 of the CDX2 gene confirmed by reverse transcriptase polymerase chain reaction and Sanger sequencing. Further, clinical evaluation for a salivary gland mass in the head and neck region and magnetic resonance imaging (MRI) of the chest, abdomen, and pelvis was performed with no evidence of tumor elsewhere. Taken together, the overall features were considered diagnostic of STM. Our current case underscores the novelty of the IRF2BP2::CDX2 gene fusion in STM and its exceptionally rare intravascular location.