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Article Open Access

Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series

  • Authors:
    • Shibo Dong
    • Hongshan Chu
    • Ruisheng Duan
    • Yuqing Bu
    • Dezhao Jia
    • Tong Pan
    • Yijing Wang
  • View Affiliations / Copyright

    Affiliations: Department of Medical Imaging, Hebei General Hospital, Shijiazhuang, Hebei 050051, P.R. China, Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei 050051, P.R. China, Department of Oncology, Hebei General Hospital, Shijiazhuang, Hebei 050051, P.R. China
    Copyright: © Dong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 190
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    Published online on: August 7, 2025
       https://doi.org/10.3892/etm.2025.12940
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Abstract

The objective of the present case report was to explore the clinical approaches to diagnosing and managing Von Hippel‑Lindau (VHL) syndrome. A retrospective review was performed on the clinical presentations, imaging findings and family genetic histories of four patients diagnosed with VHL syndrome. Their clinical features and treatment strategies were systematically analyzed. The cohort comprised of four patients, one male and three female patients, with ages at initial onset ranging from 24 to 38 years, and a median age of 32.3 years. None of the patients reported a family history of the condition, and all patients showed central nervous system hemangioblastomas and pancreatic cysts. The results of the present study demonstrated that VHL syndrome presents with a broad spectrum of clinical manifestations, often with considerable time intervals between the involvement of different organ systems. The study highlights that the presence of tumors in the central nervous system, pancreas, kidneys or other organs should prompt consideration of VHL syndrome. Accurate diagnosis relies on a thorough checking of medical history, comprehensive imaging studies and confirmatory genetic testing. The marked clinical heterogeneity and phenotypic complexity of VHL syndrome pose substantial diagnostic challenges for both clinicians and patients. The present study systematically characterizes the clinical manifestations and radiological signatures of VHL syndrome, providing actionable insights to enhance diagnostic precision and clinical decision‑making.
View Figures

Figure 1

Postoperative pathological images of
case 1. (A and C.L) Postoperative pathological images taken in
October 2010 (x100 total magnification). Pathological results: Left
cerebellar hemisphere hemangioblastoma. (B) Postoperative
pathological image taken in March 2014 (x200 total magnification).
Pathological results: (A.C) Hematoxylin and eosin staining showing
that the tumor tissue demonstrates nested and alveolar growth
patterns, composed of large tumor cells with vacuolated, lipid.rich
cytoplasm. Marked nuclear pleomorphism is observed, featuring
atypical nuclei with hyperchromasia. Mitotic figures are rare. The
tumor cell nests are surrounded by abundant capillary networks,
predominantly thin.walled vessels with some showing characteristic
highly branched 'staghorn' morphology. Immunohistochemical
findings: (D) CD34(+++; strong diffuse positivity). (E) Solute
carrier family 2 facilitated glucose transporter member 1(+). (F)
Vimentin(+++; strong diffuse positivity). (G) Epithelial membrane
antigen(.), effectively ruling out angiomatous meningioma. (H)
Ki.67 (<5% positive), supporting the diagnosis of
hemangioblastoma. (I) Glial fibrillary acidic protein(.), excluding
diffuse astrocytoma. (J) Pan.cytokeratin (.). (K) CD10(.). (L)
Paired box protein Pax.8(.), excluding metastatic carcinoma and
metastatic renal cell carcinoma.

Figure 2

Imaging of case 1. Images (A.E) were
acquired in January 2018, while images (F.H) were obtained in
February 2019. (A) Lipid compression sequence on T2WI (the arrow
indicates a pancreatic cyst). (B) T1WI fat suppression-enhanced
sequence (the arrow indicates a pancreatic cyst). (C)
Diffusion.weighted imaging sequence, showing adrenal PhC (thin
arrow) and neurofibroma of the foramen (thick arrow). (D) T1WI fat
suppression.enhanced sequence, showing adrenal PhC (thin arrow) and
neurofibroma of the foramen (thick arrow). (E) T1WI fat suppression
sequence, showing adrenal PhC (thin arrow) and pancreatic
neuroendocrine tumor (thick arrow). (F.H) T1WI enhancement, with
arrows pointing to the different hemangioblastomas. WI, weighted
imaging.

Figure 3

Imaging of case 2. The MRI
examination was performed in November 2019. (A and B) Sagittal
plane of T2-weighted imaging sequence, showing multiple abnormal
signal intensities (arrows) in the cerebellum vermis and spinal
cord. (C) T1WI enhanced sequence, showing multiple
hemangioblastomas of the CNS with syringomyelia. (D and E) T1WI
enhanced sequences showing multiple hemangioblastomas of the CNS.
CNS, central nervous system; T1WI, T1-weighted imaging.

Figure 4

Imaging of case 3. The CT scan was
performed in May 2018. (A-D) Non-contrast CT images, demonstrating
multiple lesions in both kidneys and the pancreas. The specific
types of lesions require further evaluation with contrast-enhanced
CT scans. (E and F) Arterial phases of enhanced CT scanning. (G and
H) Venous phases of enhanced CT scanning. (I and J) Delayed period
of enhanced CT scanning. The scans indicate renal cell carcinoma
(thick white short arrows), a renal cyst (thin white long arrows)
and a pancreatic cyst (red arrows). CT, computed tomography.

Figure 5

Imaging of case 4. (A-Q) MRI was
performed on March 11, 2019, and (R-T) CT scans were obtained on
March 15, 2019. (A-D) Sagittal, coronal and cross-sectional images
enhanced by lipid pressure on T1WI. The images show meningeal
metastasis of the hemangioblastoma. (E and F) T1WI cross-sectional
plain scans. (G and H) T2-weighted imaging cross-sections. (I and
J) Cross-sections of fluid-attenuated inversion recovery sequence.
(K-Q) T1WI enhanced scanning. (E-Q) Multiple hemangioblastomas in
the bilateral cerebellar hemispheres and vermis. (R) CT-enhanced
scan showing adrenal pheochromocytoma (arrow). (S) CT-enhanced scan
showing renal cell carcinoma (arrow). (T) CT-enhanced scan showing
the renal cyst (arrow). CT, computed tomography; T1WI, T1-weighted
imaging.
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Copy and paste a formatted citation
Spandidos Publications style
Dong S, Chu H, Duan R, Bu Y, Jia D, Pan T and Wang Y: Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series. Exp Ther Med 30: 190, 2025.
APA
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., & Wang, Y. (2025). Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series. Experimental and Therapeutic Medicine, 30, 190. https://doi.org/10.3892/etm.2025.12940
MLA
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., Wang, Y."Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series". Experimental and Therapeutic Medicine 30.4 (2025): 190.
Chicago
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., Wang, Y."Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series". Experimental and Therapeutic Medicine 30, no. 4 (2025): 190. https://doi.org/10.3892/etm.2025.12940
Copy and paste a formatted citation
x
Spandidos Publications style
Dong S, Chu H, Duan R, Bu Y, Jia D, Pan T and Wang Y: Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series. Exp Ther Med 30: 190, 2025.
APA
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., & Wang, Y. (2025). Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series. Experimental and Therapeutic Medicine, 30, 190. https://doi.org/10.3892/etm.2025.12940
MLA
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., Wang, Y."Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series". Experimental and Therapeutic Medicine 30.4 (2025): 190.
Chicago
Dong, S., Chu, H., Duan, R., Bu, Y., Jia, D., Pan, T., Wang, Y."Diagnosis and treatment of Von Hippel‑Lindau syndrome: A case series". Experimental and Therapeutic Medicine 30, no. 4 (2025): 190. https://doi.org/10.3892/etm.2025.12940
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