Coexistence of Sporadic Cerebellar Hemangioblastoma and Pituitary Null Cell Adenoma: Simultaneous Expression of von Hippel-Lindau Gene Product

Abstract

Coexistence of brain tumors of different pathologies is rare, and the majority of the cases were related to genetic disorders or secondary tumors occurring after radiotherapy. A 73-year-old man was introduced to the outpatient department suffering from severe nausea and vertigo. Magnetic resonance imaging showed a cystic tumor in the left cerebellar hemisphere and another lesion in the sella turcica. There was no evident family history of von Hippel-Lindau (VHL) disease, and the systemic investigation failed to detect any other tumors or signs of VHL disease. Treatment was performed in two stages, and he was discharged with remaining slight ataxic gait. The diagnoses were cerebellar hemangioblastoma and pituitary null cell adenoma. Additional immunohistochemical investigation using VHL disease gene-related protein in both tumors showed minute granular positive staining in the cytoplasm of stromal cells in the former, and diffuse and strong granular cytoplasmic positive staining in the latter. Further analysis is required to confirm the true implication of the VHL gene mutation, and the possible involvement of VHL gene-related protein in the pathogenesis of these coexisting tumors.

Rapid Progression of Unilateral Moyamoya Disease in a Patient with a Family History and an <b><i>RNF213</i></b> Risk Variant

“…In the past reports, a 59-year-old woman showed de novo progression of bilateral MMD within a 5-year interval and a 46-year-old woman developed unilateral MMD between 2004 and 2009 [8,9]. Albeit not adult cases, Amlie-Lefond et al [10] reported a 3-month-old patient with MMD and reviewed other 8 cases of early infancy before the age of 1 year, suggesting that MMD can develop very rapidly.…”

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules

“…She was tested for a paraganglioma panel due to her GIST and acromegaly because SDH genes can cause both GIST and pituitary adenomas [20][21][22][23], and because VHL can be associated with renal cell carcinoma and CNS lesions [24] and rarely with pituitary adenoma [25,26]. She was tested for AIP and MEN1, although her presentation was not suggestive for either of these genes (i.e.…”

Clinicopathological Investigation of Vascular Endothelial Growth Factor and von Hippel–Lindau Gene-Related Protein Expression in Immunohistochemically Negative Pituitary Adenoma – Possible Involvement in Tumor Aggressiveness

“…Expression of pVHL in pituitary adenomas is not well characterized (15,30,31). In a previous study, examination of pituitary adenomas (nonfunctioning, growth hormone-producing, adrenocorticotropic hormone-producing, and prolactinproducing adenomas) using VHL40 (epitope was 54-213 of pVHL) found negative staining in 18 of 21 adenomas, but strong staining in coexisting normal pituitary cells (30).…”

“…unaware of the clinical information. The whole procedure of pVHL staining was described in our previous paper (15). Diagnostic criteria of staining for VEGF, HIF1-α, and pVHL were defined as 3þ if more than half of the cells showed strong to moderate staining, as 2þ if more than half of the cells showed mild to weak staining, as 1þ if less than half of the cells showed mild to weak staining, and as 0 if no cells showed staining.…”