PMC4720105_01
Pedigree presenting VHL gene mutation status and malignancy. Both brothers were diagnosed with renal cell carcinoma (RCC) with VHL gene mutation and one of his sons was confirmed VHL mutation without clinical manifestation.
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The patient's family history included a mother with a brain tumor of unconfirmed pathology, and both brothers with renal cell carcinoma with VHL gene mutation (Fig. 1).
(A) Spine magnetic resonance imaging showed multiple enhancing nodular lesions of the spinal canal suspected leptomeningeal metastasis of unknown primary malignancy. Positron emission tomography computed tomography whole body scan showed a 3-cm enhancing heterogenous mass in the right kidney (arrow) (B), focal mural thickening with intense fludeoxyglucose uptake in the sigmoid colon (C).
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Whole spine magnetic resonance imaging (MRI) showed multiple enhancing nodular lesions of the spinal canal suspected leptomeningeal metastasis of unknown primary malignancy (Fig. 2A).
Polymerase chain reaction sequencing analysis of von Hippel-Lindau (VHL) gene showed a p.Glu70Lys (c.208G > A)
mutation in exon 1, confirming the diagnosis of VHL disease.
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Subsequently, polymerase chain reaction (PCR) sequencing analysis of VHL gene showed p.Glu70Lys (c.208G > A) mutation in exon 1, confirming the diagnosis of VHL disease (Fig. 3).
Brain magnetic resonance imaging showed three enhancing lesions (arrows) in bilateral cerebellar hemispheres (A,B) and left cerebellar tonsil (C), suggesting hemangioblastomas.n
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Brain MRI showed three enhancing lesions in bilateral cerebellar hemispheres and left cerebellar tonsil, suggesting hemangioblastomas (Fig. 4).
Abdomen-pelvic computed tomography scan showed newly developed hepatic metastasis in S6 (A) and an enlarged aortocaval lymph node (arrow) (B).n
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After one month, follow-up imaging studies showed stable lesions in the brain and spine, but there was a newly developed hepatic metastasis in S6 and an enlarged aortocaval lymph node (Fig. 5).