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Sellar abnormalities in female first-degree relatives.

Abstract：

:Non-pituitary lesions account for a minority of sellar region abnormalities. We report the unusual occurrence of non-pituitary sellar/suprasellar lesions in a mother and her two daughters. Each of these cases was diagnosed and managed differently, illustrating the relative importance of radiographic imaging, tumor markers and histopathologic examination in the diagnosis and treatment of intracranial disease. The mother had histologically confirmed Rathke's cleft cyst (RCC) with typical radiographic and histologic appearance. One daughter was treated presumptively for germinoma based on characteristic radiographic studies and slightly elevated tumor marker. The other daughter's lesion exhibited radiographic characteristics concerning for pituitary macroadenoma but with slightly elevated germ cell tumor marker, raising the suspicion for germinoma. Biopsy of the intrasellar mass revealed only proteinaceous material and normal anterior pituitary, consistent with cyst content without evidence of neoplasm. Without a clear unifying diagnosis it is difficult to posit an underlying pathology or genetic mechanisms in this unusual set of cases. At least two of the patients had benign cysts. The diagnosis of the third patient is unclear as there was no tissue biopsy. However, it is highly improbable that three female first-degree relatives would develop such lesions in the same brain region simply by chance.

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Gabeau-Lacet D,Grant E,Stemmer-Rachamimov A,Yock T,Tarbell NJ

doi

10.1016/j.clineuro.2007.09.021

subject

Has Abstract

pub_date

2008-02-01 00:00:00

pages

202-6

issue

2

eissn

0303-8467

issn

1872-6968

pii

S0303-8467(07)00286-7

journal_volume

110

pub_type

杂志文章

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