A von Hippel-Lindau disease-associated microcystic adenoma of the ethmoid sinus: case report.

Abstract:

BACKGROUND AND IMPORTANCE:We present a unique case of an anterior cranial base von Hippel-Lindau disease (VHL)-associated microcystic neoplasm. To determine the lesion's relationship with VHL and its appropriate management, we discuss its salient clinical, pathological, and molecular features. CLINICAL PRESENTATION:A 36-year-old woman with VHL presented with a 3-month history of phantosmia. Serial magnetic resonance imaging studies revealed a lesion within the ethmoid and frontal sinus region that was first evident 18 months before symptom development and demonstrated progressive growth over the interval period. The lesion was resected via a transbasal approach. Histopathological and immunohistochemical analysis revealed a microcystic lesion composed of bland clear cells and underlying endothelial cells consistent with a VHL-associated microcystic neoplasm that are not known to metastasize. Molecular testing demonstrated loss of heterozygosity of the VHL locus, verifying the tumor as a VHL-related neoplasm. CONCLUSION:Because primary VHL-associated microcystic tumors in the anterior cranial base have not been described previously, the natural history of these tumors remains unclear. Based on the benign features of these lesions, they can be managed conservatively with close observation and surgical intervention reserved for those that produce symptoms.

journal_name

Neurosurgery

journal_title

Neurosurgery

authors

Xu DS,Dirks MS,Quezado MM,Lubensky IA,Zhuang Z,Lonser RR,Asthagiri AR

doi

10.1227/NEU.0b013e318223b7a7

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

E1017-21; discussion E1021-2

issue

4

eissn

0148-396X

issn

1524-4040

journal_volume

69

pub_type

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