Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Fusion in the Parotid Gland Presenting as Bell's Palsy.

Epithelioid hemangioendothelioma is a rare tumor of endothelial differentiation most commonly arising in soft tissue, liver, and lung, following a variable clinical course. Most cases are characterized by a t(1;3)(p36;q23-25) resulting in WWTR1-CAMTA1 fusion. Only five epithelioid hemangioendothelioma have been previously reported arising in the salivary glands. None have presented as Bell's palsy. In the current case, a 37-year-old female presented with a longstanding complaint of pain and fullness in the right preauricular region and progressive episodes of Bell's palsy and facial nerve weakness. Surgical resection showed a tumor comprised of atypical cells with occasional intracytoplasmic vacuoles in a fibromyxoid stroma. Immunohistochemical stains demonstrated the neoplastic cells expressed ERG, CD31, and CD34, confirming vascular differentiation. Fluorescence in situ hybridization revealed a t(1;3)(p36;q25), confirming a diagnosis of epithelioid hemangioendothelioma. At 12-month follow-up, the patient has no evidence of disease.

Developmentally dynamic colocalization patterns of DSCAM with adhesion and synaptic proteins in the mouse retina.

PURPOSE: The Down syndrome cell adhesion molecule (Dscam) gene is required for normal dendrite arborization and lamination in the mouse retina. In this study, we characterized the developmental localization of the DSCAM protein to better understand the postnatal stages of retinal development during which laminar disorganization occur in the absence of the protein. METHODS: Immunohistochemistry and colocalization analysis software were used to assay the localization of the DSCAM protein during development of the retina. RESULTS: We found that DSCAM was initially localized diffusely throughout mouse retinal neurites but then adopted a punctate distribution. DSCAM colocalized with catenins in the adult retina but was not detected at the active zone of chemical synapses, electrical synapses, and tight junctions. Further analysis identified a wave of colocalization between DSCAM and numerous synaptic and junction proteins coinciding with synaptogenesis between bipolar and retinal ganglion cells. CONCLUSIONS: Research presented in this study expands our understanding of DSCAM function by characterizing its location during the development of the retina and identifies temporally regulated localization patterns as an important consideration in understanding the function of adhesion molecules in neural development.