Genetic study in one individual with brainstem hemangioblastoma, multiple meningiomas and a pituitary space-occupying lesion revealing partial deletion in vhl gene
机构：[1]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China神经外科首都医科大学宣武医院[2]Department of Neurobiology, Beijing Institute of geriatrics, Xuanwu Hospital, Capital Medical University, Beijing, China老年医学科首都医科大学宣武医院[3]Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing, China病理科首都医科大学宣武医院[4]Department of Neurosurgery, Chinese PLA General Hospital and PLA Medical College, Beijing, China
The concurrence of different types of brain tumors is extremely rare. We present a 29-yearold women with brainstem hemangioblastoma, posterior fossa meningiomas and a pituitary spaceoccupying lesion causing hyperprolactinemia.Despite multiple primary intracranial tumors,through systemic work-up, no other manifestation related to von Hippel-Lindau(VHL) disease was found. Complete resection of the brainstem hemangioblastoma and posterior fossa meningiomas was achieved in one single operation via a sub-occipital posterior combined with retrosigmoid approach. The patient was discharged without obvious postoperative complications. Gene copy number analysis based on quantitative PCR revealed partial deletion of Exon 1 in VHL gene in the peripheral blood, brainstem hemangioblastoma and meningiomas. The germline and somatic abnormality in VHL gene might be causally related to tumorigenesis in tumors other than hemangioblastoma,although the exact mechanism is unclear. A close follow-up is significant for such a patient with a de-novo deletion of VHL gene.
语种：
外文
第一作者：
第一作者机构：[1]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[*1]Department of Neurosurgery, Chinese PLA General Hospital and PLA Medical College, Chinese PLA Institute of Neurosurgery, 100853, Beijing, China
推荐引用方式(GB/T 7714)：
Pengfei Liu,Yanning Cai,Jianxin Du,et al.Genetic study in one individual with brainstem hemangioblastoma, multiple meningiomas and a pituitary space-occupying lesion revealing partial deletion in vhl gene[J].Current Signal Transduction Therapy.2016,11(1):doi:10.2174/1574362411666160429105406.
APA：
Pengfei Liu,Yanning Cai,Jianxin Du,Jiayin Wang,Mingchu Li...&Ling Chen.(2016).Genetic study in one individual with brainstem hemangioblastoma, multiple meningiomas and a pituitary space-occupying lesion revealing partial deletion in vhl gene.Current Signal Transduction Therapy,11,(1)
MLA：
Pengfei Liu,et al."Genetic study in one individual with brainstem hemangioblastoma, multiple meningiomas and a pituitary space-occupying lesion revealing partial deletion in vhl gene".Current Signal Transduction Therapy 11..1(2016)
