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    MUTATIONS IN PANCREATIC NEOPLASMS
    5.
    发明公开
    MUTATIONS IN PANCREATIC NEOPLASMS 有权
    PANKREAS-NEOPLASMEN中的突变体

    公开(公告)号：EP2723896A2

    公开(公告)日：2014-04-30

    申请号：EP12802288.6

    申请日：2012-06-22

    申请人： The Johns Hopkins University

    发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth W. ,  WU, Jian ,  DIAZ, Luis ,  PAPADOPOULOS, Nickolas ,  MATTHAEI, Hanno ,  HRUBAN, Ralph ,  MAITRA, Anirban

    IPC分类号： C12Q1/68 ,  C12N15/11

    CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/156

    摘要： To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.

    摘要翻译： 为了揭示这些病变的发病机制，我们从19名患者的导管内乳头状粘液性肿瘤（IPMN）囊肿液中纯化了DNA，并在人类癌症中通常改变的169种基因中进行了突变检测。 我们在GNAS的201号密码子处鉴定了复发性突变。 我们发现GNAS突变存在于66％的IPMNs中，KRAS或GNAS突变可以在96％中鉴定。 在8例中，我们可以研究与含有GNAS突变的IPMN相关的侵袭性腺癌。 在这8例中有7例中，存在于IPMNs中的GNAS突变也在侵袭性损伤中发现。 在其他类型的胰腺囊性肿瘤或与IPMN无关的侵袭性腺癌中未发现GNAS突变。 这些数据表明，GNAS突变可以为囊性胰腺病变患者的诊断和治疗提供依据。

    PERSONALIZED TUMOR BIOMARKERS
    6.
    发明公开
    PERSONALIZED TUMOR BIOMARKERS 有权
    个性化肿瘤标志物

    公开(公告)号：EP2536854A2

    公开(公告)日：2012-12-26

    申请号：EP11745196.3

    申请日：2011-02-17

    申请人： The Johns Hopkins University

    发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth W. ,  VELCULESCU, Victor ,  DIAZ, Luis ,  LEARY, Rebecca J.

    IPC分类号： C12Q1/68 ,  C12N15/11 ,  C40B40/06

    CPC分类号： C12Q1/6886 ,  C12Q2600/156

    摘要： Clinical management of human cancer is dependent on the accurate monitoring of residual and recurrent tumors. We have developed a method, called personalized analysis of rearranged ends (PARE), which can identify translocations in solid tumors. Analysis of four colorectal and two breast cancers revealed an average of nine rearranged sequences (range 4 to 15) per tumor. Polymerase chain reaction with primers spanning the breakpoints were able to detect mutant DNA molecules present at levels lower than 0.001% and readily identified mutated circulating DNA in patient plasma samples. This approach provides an exquisitely sensitive and broadly applicable approach for the development of personalized biomarkers to enhance the clinical management of cancer patients.

    MUTATIONS IN PANCREATIC NEOPLASMS
    7.
    发明授权
    MUTATIONS IN PANCREATIC NEOPLASMS 有权
    突变胰腺肿瘤

    公开(公告)号：EP2723896B1

    公开(公告)日：2017-03-01

    申请号：EP12802288.6

    申请日：2012-06-22

    申请人： The Johns Hopkins University

    发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth W. ,  WU, Jian ,  DIAZ, Luis ,  PAPADOPOULOS, Nickolas ,  MATTHAEI, Hanno ,  HRUBAN, Ralph ,  MAITRA, Anirban

    IPC分类号： C12Q1/68 ,  C12N15/11

    CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/156

    摘要： To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.