Pancreatic manifestations of von Hippel-Lindau disease.

Von Hippel-Lindau disease is an uncommon, multisystem, multitumor disorder that can present in sporadic form but is more commonly inherited as an autosomal-dominant disease with high penetrance. Affected patients are at increased risk for developing multiple synchronous or metachronous benign or malignant, cystic, and vascular neoplasms of various organs. The characteristic neoplasms associated with von Hippel-Lindau are hemangioblastoma of the central nervous system and retina, clear cell renal cell carcinoma, and pheochromocytoma, but other lesions are well recognized. Pancreatic lesions, both primary and metastatic, are common, and several differential diagnostic possibilities must be considered.

Adrenal extranodal NK/T-cell lymphoma diagnosed by fine-needle aspiration and cerebrospinal fluid cytology and immunophenotyping: a case report.

The cytologic findings of an extranodal NK/T-cell lymphoma (NKTCL) presenting as a large adrenal mass with leptomeningeal involvement diagnosed by CT-guided fine-needle aspiration and cerebrospinal fluid (CSF) cytology are described. The 65-year-old Caucasian patient presented with progressive headache and multiple cranial nerve neuropathies. Magnetic resonance imaging showed leptomeningeal enhancement surrounding the conus medullaris and cauda equine, and a subsequent PET/CT demonstrated a large right adrenal gland mass. Fine-needle aspiration of the adrenal mass showed occasional large pleomorphic cells with prominent nucleoli, moderate amounts of cytoplasm, and rare large cells with sparse cytoplasmic granules admixed with numerous small lymphocytes. Initial flow cytometry from this sample showed no clonal B-cell population. Immunoperoxidase stains performed on the cell block/core specimen showed that the large atypical cells were positive for CD2, CD30, CD43 and CD56, TIA-1, granzyme, and perforin, but for none of the other T-cell markers used (CD3, CD4, CD5, CD8, CD45RO), which stained the abundant background lymphocytes. A CSF specimen showed similar neoplastic cells and flow cytometry showed an NK-cell population with aberrant immunophenotype. The cytologic findings of the neoplastic cells and the extensive panel of immunoperoxidase stains allowed the diagnosis of NKTCL, which was confirmed by the subsequent flow-cytometric immunophenotyping performed on the CSF. This is, to the best of our knowledge, the first case of NKTCL diagnosed by FNA of the adrenal gland and by CSF cytology.

Endoscopic ultrasound-guided fine-needle aspiration diagnosis of clear-cell pancreatic endocrine neoplasm in a patient with von Hippel-Lindau disease: a case report.

The cytologic findings of a clear-cell pancreatic endocrine neoplasm (PEN) diagnosed by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) occurring in a 29-year-old man with von Hippel-Lindau (VHL) syndrome are described. Imaging studies showed multiple pancreatic masses and cysts, a single liver lesion, and pulmonary and renal cysts. Cytologic features of this clear-cell PEN included the presence of large sheets and rounded clusters of polygonal neoplastic cells with relatively abundant cytoplasm containing numerous, small, sharply-demarcated vacuoles that occasionally indented nuclei and gave the cells a "frothy" appearance. Mild anisonucleosis was present and nucleoli were visible. Rare single cells and stripped nuclei were seen. Small vessels transgressed tumor cell sheets. These cytologic findings are distinct from those of typical endocrine neoplasms, and bear resemblance to the cytologic features of renal cell carcinoma metastatic to the pancreas. To the best of our knowledge, this is the first detailed report of the EUS-FNA cytologic findings of a clear-cell PEN associated with VHL syndrome. We believe that the distinctive and characteristic cytologic features, together with immunohistochemical studies, can allow a preoperative cytologic diagnosis of this highly unusual pancreatic lesion and avoid possible confusion with other clear-cell neoplasms in the pancreas, particularly metastatic renal cell carcinoma.