Title:
MODEL, DIAGNOSTIC METHOD, AND APPLICATION THEREOF
Document Type and Number:
WIPO Patent Application WO/2018/214845
Kind Code:
A1
Abstract:
A model and an application thereof, the model being used for detecting a benign and malignant degree of a tumor. The model grades a change of an imprinted gene in a tumor by calculating a deletion expression quantity of the imprinted gene and a copy number abnormal expression quantity of the imprinted gene. The detection model and device in the present invention presents the expression of loss of imprinting in a sample of a tumor patient in a direct way for the first time; based on an imprinted gene in situ labeling method, a change of an imprinted gene is detected objectively, directly, early, and precisely, and a quantitative model can be provided, to make a great contribution to molecular pathology diagnosis.
Inventors:
CHENG TONG (CN)
ZHOU NING (CN)
ZHOU NING (CN)
Application Number:
PCT/CN2018/087661
Publication Date:
November 29, 2018
Filing Date:
May 21, 2018
Export Citation:
Assignee:
LISEN IMPRINTING DIAGNOSTICS INC (US)
International Classes:
C12Q1/68
Other References:
FAY WANG ET AL.: "A Novel in Situ RNA Analysis Platform for Formalin-Fixed, Paraffin-Embedded Tissues", THE JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 14, no. 1, 31 January 2012 (2012-01-31), XP055191966
HOSODA W ET AL.: "GNAS Mutation is a Frequent Event in Pancreatic Intraductal Papillary Mucinous Neoplasms and Associated Adenocarcinomas", VIRCHOWS ARCH., vol. 466, no. 6, 30 June 2015 (2015-06-30), XP055554512
LIVINGSTONE C., IGF2 AND CANCER. ENDOCR RELAT CANCER., vol. 20, no. 6, 24 October 2013 (2013-10-24), XP055306542
DENG X ET AL.: "PEG 10 Plays a Crucial Role in Human Lung Cancer Proliferation, Progession, Prognosis and Metastasis", ONCOL REP., vol. 32, no. 5, 23 November 2014 (2014-11-23), XP055554543
TIAN Z ET AL.: "IGF2R Expression is Associated with the Chemotherapy Response and Prognosis of Patients with Advanced NSCLC", CELL PHYSIOL BIOCHEM., vol. 34, no. 5, 31 October 2014 (2014-10-31), XP055554549
KAMEI Y ET AL.: "Pegl/Mest in Obese Adipose Tissue is Expressed from the Paternal Allele in an Isoform-specific Manner", FEBS LETT, vol. 581, no. 1, 12 December 2006 (2006-12-12), XP005815649
JARMALAITE S ET AL.: "Tumor Supperssor Gene ZAC/PLAGL1: Altered Expression and Loss of the Nonimprinted Allele in Pheochromocytomas", CANCER GENET, vol. 204, no. 7, 31 July 2011 (2011-07-31), XP028274990
BRIOUDE F ET AL.: "Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization", HUM MUTAT, vol. 36, no. 9, 30 September 2015 (2015-09-30), XP055554638
KASAMATSU A ET AL.: "Decorin in Human Oral Cancer: a Promising Predictive Biomarker of S-1 Neoadjuvant Chemosensitivity", BIOCHEM BIOPHYS RES COMMUN, vol. 457, no. 1, 30 January 2015 (2015-01-30), XP055554642
CHI SABINS ET AL.: "DLK1: A Novel Target for Immunotherapeutic Remodeling of the Tumor Blood Vasculature", MOL THER., vol. 21, no. 10, 21 October 2013 (2013-10-21), XP055554646
PFLUEGER D ET AL.: "Functional Characterization of BC039389-GATM and KLK4-KRSP1 Chimeric Read-through Transcripts which are up-regulated in Renal Cell Cancer", BMC GENOMICS, vol. 16, 27 March 2015 (2015-03-27), XP021220772
MROUE R ET AL.: "Correction: Monoallelic Loss of the Imprinted Gene Grb 10 Promotes Tumor Formation in Irradiated Nfl+/-Mice", PLOS GENET, vol. 15, no. 6, 15 June 2015 (2015-06-15), XP055554653
NYE ET AL.: "Associations between Methylation ot Paternally Expressed Gene 3 (PEG3), Cervical Intraepithelial Neoplasia and Invasive Cervical Cancer", PLOS ONE, vol. 8, no. 2, 31 December 2013 (2013-12-31), XP055554666
SEPULVEDA JL ET AL.: "igh-definition CpG Methylation of Novel Genes in Gastric Carcinogenesis Identified by Next-generation Sequencing", MOD PATHOL., vol. 29, no. 2, 29 February 2016 (2016-02-29), XP055445614
LEE SY ET AL.: "Polymorphisms in Cancer-related Pathway Genes and Lung Cancer", EUR RESPIR J., vol. 48, no. 4, 31 October 2016 (2016-10-31), XP055554671
BARROW TM ET AL.: "Aberrant Methylation of Imprinted Genes is Associated with Negative Hormone Receptor Status in Invasive Breast Cancer", INT J CANCER, vol. 137, no. 3, 1 August 2015 (2015-08-01), XP055554676
See also references of EP 3633045A4
HOSODA W ET AL.: "GNAS Mutation is a Frequent Event in Pancreatic Intraductal Papillary Mucinous Neoplasms and Associated Adenocarcinomas", VIRCHOWS ARCH., vol. 466, no. 6, 30 June 2015 (2015-06-30), XP055554512
LIVINGSTONE C., IGF2 AND CANCER. ENDOCR RELAT CANCER., vol. 20, no. 6, 24 October 2013 (2013-10-24), XP055306542
DENG X ET AL.: "PEG 10 Plays a Crucial Role in Human Lung Cancer Proliferation, Progession, Prognosis and Metastasis", ONCOL REP., vol. 32, no. 5, 23 November 2014 (2014-11-23), XP055554543
TIAN Z ET AL.: "IGF2R Expression is Associated with the Chemotherapy Response and Prognosis of Patients with Advanced NSCLC", CELL PHYSIOL BIOCHEM., vol. 34, no. 5, 31 October 2014 (2014-10-31), XP055554549
KAMEI Y ET AL.: "Pegl/Mest in Obese Adipose Tissue is Expressed from the Paternal Allele in an Isoform-specific Manner", FEBS LETT, vol. 581, no. 1, 12 December 2006 (2006-12-12), XP005815649
JARMALAITE S ET AL.: "Tumor Supperssor Gene ZAC/PLAGL1: Altered Expression and Loss of the Nonimprinted Allele in Pheochromocytomas", CANCER GENET, vol. 204, no. 7, 31 July 2011 (2011-07-31), XP028274990
BRIOUDE F ET AL.: "Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization", HUM MUTAT, vol. 36, no. 9, 30 September 2015 (2015-09-30), XP055554638
KASAMATSU A ET AL.: "Decorin in Human Oral Cancer: a Promising Predictive Biomarker of S-1 Neoadjuvant Chemosensitivity", BIOCHEM BIOPHYS RES COMMUN, vol. 457, no. 1, 30 January 2015 (2015-01-30), XP055554642
CHI SABINS ET AL.: "DLK1: A Novel Target for Immunotherapeutic Remodeling of the Tumor Blood Vasculature", MOL THER., vol. 21, no. 10, 21 October 2013 (2013-10-21), XP055554646
PFLUEGER D ET AL.: "Functional Characterization of BC039389-GATM and KLK4-KRSP1 Chimeric Read-through Transcripts which are up-regulated in Renal Cell Cancer", BMC GENOMICS, vol. 16, 27 March 2015 (2015-03-27), XP021220772
MROUE R ET AL.: "Correction: Monoallelic Loss of the Imprinted Gene Grb 10 Promotes Tumor Formation in Irradiated Nfl+/-Mice", PLOS GENET, vol. 15, no. 6, 15 June 2015 (2015-06-15), XP055554653
NYE ET AL.: "Associations between Methylation ot Paternally Expressed Gene 3 (PEG3), Cervical Intraepithelial Neoplasia and Invasive Cervical Cancer", PLOS ONE, vol. 8, no. 2, 31 December 2013 (2013-12-31), XP055554666
SEPULVEDA JL ET AL.: "igh-definition CpG Methylation of Novel Genes in Gastric Carcinogenesis Identified by Next-generation Sequencing", MOD PATHOL., vol. 29, no. 2, 29 February 2016 (2016-02-29), XP055445614
LEE SY ET AL.: "Polymorphisms in Cancer-related Pathway Genes and Lung Cancer", EUR RESPIR J., vol. 48, no. 4, 31 October 2016 (2016-10-31), XP055554671
BARROW TM ET AL.: "Aberrant Methylation of Imprinted Genes is Associated with Negative Hormone Receptor Status in Invasive Breast Cancer", INT J CANCER, vol. 137, no. 3, 1 August 2015 (2015-08-01), XP055554676
See also references of EP 3633045A4
Attorney, Agent or Firm:
BEYOND ATTORNEYS AT LAW (CN)
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