Browsing by Subject "von Hippel-Lindau disease"

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    A 41-year-old woman with von Hippel-Lindau and a cerebellar lesion
    (Wiley, 2010-03) Martin, Sarah E.; Al-Khatib, Sohaib M.; Turner, Michael S.; Douglas-Akinwande, Annette C.; Hattab, Eyas M.; Pathology and Laboratory Medicine, School of Medicine
    A 41-year-old woman with a 12-year history of von Hippel-Lindau disease presented with progressive quadriparesis and difficulty swallowing. MRI revealed a well-circumscribed, partially cystic cerebellar neoplasm, consistent with hemangioblastoma. The tumor was resected and the diagnosis of hemangioblastoma confirmed. Embedded within the hemangioblastoma was a small focus of metastatic renal cell carcinoma (RCC). RCC metastatic to a CNS hemangioblastoma is the second most common type of tumor-to-tumor metastasis, which may be due to a number of factors. Proper immunostaining panels are required to clearly identify these cases since both tumor may have similar histology.
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    Characterization of Microscopic Multicellular Foci in Grossly Normal Renal Parenchyma of Von Hippel-Lindau Kidney
    (MDPI, 2022-11-24) Al-Gharaibeh, Nayef S.; Shively, Sharon B.; Vortmeyer, Alexander O.; Pathology and Laboratory Medicine, School of Medicine
    Background and Objectives: This study aims to describe the earliest renal lesions in patients with von Hippel-Lindau (VHL) disease, especially the multicellular microscopic pathologic events, to get information into the genesis of renal neoplasms in this condition. Materials and Methods: Multicellular events were identified, and 3dimensional reconstruction was performed in grossly normal kidney parenchyma from VHL disease patients by using H&E-stained slides previously prepared. Results: The lesions were measured and the volume of clusters was calculated. Immunohistochemistry was performed for downstream HIF-target protein carbonic anhydrase 9 (CAIX) as well as CD34 for assessment of angiogenesis. We divided lesions into four types according to lesion height/size. The number of lesions was markedly decreased from lesion 1 (smallest) to lesion 2, then from lesions 2 to 3, and again from lesion 3 to 4. Distribution was highly consistent in the four cases, and the same decrement pattern was seen in all blocks studied. The volumes of clusters were measured and divided into three categories according to their volume. The most frequent pathologic event in VHL kidneys was category 1 (smallest volume), then category 2, and then category 3. Conclusion: We demonstrate that tracking histologic and morphologic changes in 3 dimensions of multicellular microscopic pathologic events enabled us to confirm a protracted sequence of events from smaller to larger cellular amplification events in VHL kidney.
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    The Pathologic and Molecular Genetic Landscape of the Hereditary Renal Cancer Predisposition Syndromes
    (Wiley, 2022) Al-Obaidy, Khaleel I.; Alruwaii, Zainab I.; Williamson, Sean R.; Cheng, Liang; Pathology and Laboratory Medicine, School of Medicine
    It is estimated that 5-8% of renal tumors are hereditary in nature with many inherited as autosomal dominant. These tumors carry a unique spectrum of pathologic and molecular alterations, the knowledge of which is expanding in the recent years. Indebted to this knowledge, many advances in treatment of these tumors have been achieved. In this review, we summarize the current understanding of the genetic renal neoplasia syndromes, the clinical and pathologic presentations, their molecular pathogenesis, the advances in therapeutic implications and targeted therapy.