Virchows Archiv

, Volume 463, Issue 4, pp 593–597

Inhibin-expressing clear cell neuroendocrine tumor of the ampulla: an unusual presentation of von Hippel–Lindau disease

  • Hasan Gucer
  • Eva Szentgyorgyi
  • Shereen Ezzat
  • Sylvia L. Asa
  • Ozgur Mete
Case Report

DOI: 10.1007/s00428-013-1465-6

Cite this article as:
Gucer, H., Szentgyorgyi, E., Ezzat, S. et al. Virchows Arch (2013) 463: 593. doi:10.1007/s00428-013-1465-6

Abstract

von Hippel–Lindau (VHL) disease is a hereditary autosomal dominant disorder associated with deletions or mutations in the VHL tumor suppressor gene. Characteristically, up to 60 % of neuroendocrine tumors (NETs) associated with VHL disease display a spectrum of clear cell morphology including multivacuolated lipid-rich cell change. Unlike neurofibromatosis type 1 and multiple endocrine neoplasia type 1 syndromes, ampullary NETs have not been described in association with VHL disease. In this report, we discuss the features of an incidental ampullary clear cell NET occurring in a patient with pancreatic VHL disease including multiple pancreatic NETs. The ampullary lesion consisted of epithelial cells resembling lipoblasts or signet ring cells. In our case, all NETs showing clear cell change were positive for inhibin. While the underlying mechanism of this finding is largely unknown, it is of note that positivity for inhibin has not been observed in clear cell NETs associated with multiple endocrine neoplasia type 1 syndrome. Our case proves that NETs can develop in the ampullary region in patients with VHL; clear cell change can occur in these lesions and can mimic signet ring cell carcinoma. This issue is of clinical significance especially in small biopsy samples; thus, positivity for keratin alone should not be taken as evidence of an adenocarcinoma. Moreover, demonstration of inhibin expression in a NET with clear cell change along with other clinical stigmata should alert the diagnostician to the possibility of VHL disease. However, further larger series examining inhibin expression in both syndrome-related and sporadic clear cell NETs are needed to confirm our findings.

Keywords

von Hippel–Lindau Inhibin Clear cell neuroendocrine tumor HIF Pancreas Ampulla 

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Hasan Gucer
    • 1
    • 2
  • Eva Szentgyorgyi
    • 1
    • 2
  • Shereen Ezzat
    • 3
    • 4
  • Sylvia L. Asa
    • 1
    • 2
  • Ozgur Mete
    • 1
    • 2
  1. 1.Department of PathologyUniversity Health NetworkTorontoCanada
  2. 2.Department of Laboratory Medicine and PathobiologyUniversity of TorontoTorontoCanada
  3. 3.Department of MedicineUniversity Health NetworkTorontoCanada
  4. 4.Department of MedicineUniversity of TorontoTorontoCanada

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