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Disseminated Malignant Rhabdoid Tumor of the Head and Neck

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Disseminated extrarenal malignant rhabdoid tumors of the head and neck are very rare, but aggressive tumors. Although the features on radiological imaging may be nonspecific, the imaging is useful for assessing the extent of tumor involvement. Key pathologic features are those of a cellular "blue cell tumor'' with variable rhabdoid appearance. These cells express a combination of markers usually viewed as characteristic of diverse lines of differentiation, including EMA, cytokeratins, smooth muscle markers, and GFAP, and occasionally synaptophysin. At a molecular level, the entity is defined by mutations or alterations in the SMARB1/INI1 gene resulting in loss of INI1 expression. Diagnostic features include rhabdoid cells, expression of keratin with absence of desmin, S100 protein and CD34, and loss of INI1 expression. These features are exemplified in this sine qua non radiologypathology correlation article.

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