Cancer Res Treat.  2016 Jan;48(1):409-414. 10.4143/crt.2014.299.

A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas

• Heo SJ
• Lee CK
• Hahn KY
• Kim G
• Hur H
• Choi SH
• Han KS
• Cho A
• Jung M

• KMID: 2152301
• DOI: http://doi.org/10.4143/crt.2014.299

Abstract

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS.

Keyword

von Hippel-Lindau disease; Colorectal neoplasm; Renal cell carcinoma; Hemangioblastoma

MeSH Terms

Adenocarcinoma*
Adrenal Glands
Aged
Carcinogenesis
Carcinoma, Renal Cell*
Central Nervous System
Colorectal Neoplasms
Genes, Tumor Suppressor
Hemangioblastoma*
Humans
Kidney
Pancreas
von Hippel-Lindau Disease*

Figure

• 

  Fig. 1. 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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  Fig. 2. (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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  Fig. 3. 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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  Fig. 4. 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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  Fig. 5. Abdomen-pelvic computed tomography scan showed newly developed hepatic metastasis in S6 (A) and an enlarged aortocaval lymph node (arrow) (B).n

Reference

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