Screen of the tumor-related regions of sporadic pheochromacytoma
- VernacularTitle:散发型嗜铬细胞瘤易感基因的热点区域的筛选
- Author:
Dong WANG
;
Hanzhong LI
- Publication Type:Journal Article
- Keywords:
sporadic pheochromacytomas;
single nucleotide polymorphism chip;
genes
- From:
Basic & Clinical Medicine
2015;(1):79-85
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify candidate regions of sporadic pheochromacytoma (PCC).Methods Totally 42 patients who were clinically diagnosed as sporadic PCC from 2011-9 to 2013-5 in PUMCH were enrolled .To extract whole genome DNA from their tumors as well as peripheral blood leukocytes and to exclude inherited cases by San-ger sequence mutation .Within 14 verified cases of sporadic PCC , we applyed single nucleotide polymorphism ( SNP) chip to detect whole genome DNA copy number variations ( CNV) and loss of heterozygosity ( LOH) to ini-tiallylocatethehotregions.FinallyapplyQ-PCRtoconfirmthehotregionsinleftcases.Results 38caseswere identified as sporadic PCC , and 4 as inherited cases .CNV were found in 14/14 tumors, of which deletions were more common.Missing regions occurred in 1p,3q,17p,22q,11p.On the other hand, of the 3 inherited cases, de-letion was also detected.The loss of parts of arm 1p is the most common, including chr1:74 957 006 ~86 132 879 , chr1:58 096 424~67 700 471 , and chr1:98 902 091~107 622 430 .The result of Q-PCR confirmed the above-mentioned three regions , and the three segments are final candidate regions .Conclusions Partially de-letion of 1p in most cases is the most striking phenomenon , we believe that the deletion of 1p may occur with PCC development , and there may be some tumor suppressor gene ( s) within these areas .
