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As many as 5 to 10% of cases presented for pathologic review pose a significant diagnostic dilemma. Among the most challenging of these are different lesions with similar clinicopathologic features.1 Whereas modern methods such as immunohistochemistry and molecular tools such as the PCR can help distinguish some conditions, there remain lesions, such as tumors, that share the same genetic alterations but for which differentiation remains imperative for prognostic and therapeutic reasons. A setting in which this may be especially true is in familial, multiple neoplastic syndromes, in which tumors may share histologic features and also have an identical pathogenesis.
von Hippel–Lindau (vHL) disease is a hereditary cancer syndrome characterized by multiple tumors of the CNS and retina, kidney, adrenal medulla, and pancreas. Although CNS hemangioblastomas (Hb) are considered benign, renal clear cell carcinomas (RCCC) frequently metastasize and are the cause of death in up to 30% of vHL patients.2,3⇓ Given the morphologic resemblance of …
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