Abstract
To explore the clinical features and mechanism of pituitary adenoma associated with vestibular schwannoma (PAVS). The authors retrospectively reviewed pituitary adenoma patients in Beijing Tiantan Hospital from January 1, 2008 to December 31, 2016. A total of two pituitary adenoma samples, 1 vestibular schwannoma sample and one paired pituitary adenoma/blood sample were subjected next-generation sequencing and sanger sequence. A total of 5675 pituitary adenoma patients from January 1, 2008 to December 31, 2016, were retrospectively analyzed; of these, 4 (7%) patients met the criteria of PAVS. Clinical variable analyses revealed significant correlations between PAVS and older age when compared with sporadic pituitary adenoma (SPA) or sporadic vestibular schwannoma (SVS). The authors found that there were 2 germline mutations of XKR3 in 2/4 PAVS patients. Therefore, the authors speculated that XKR3 might be a genetic predisposition factor. The result also showed that there was no NF2 mutation and NF2-related symptom in the 4 PAVS samples. PAVS had a significant correlation with older age when compared with SPA and SVS. XKR3 may be a genetic predisposition factor for PAVS, it represents a therapeutic target for PAVS in the future.
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