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
Neurosurgeryjournal_title
Neurosurgeryauthors
Xu DS,Dirks MS,Quezado MM,Lubensky IA,Zhuang Z,Lonser RR,Asthagiri ARdoi
10.1227/NEU.0b013e318223b7a7subject
Has Abstractpub_date
2011-10-01 00:00:00pages
E1017-21; discussion E1021-2issue
4eissn
0148-396Xissn
1524-4040journal_volume
69pub_type
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