Title:
METHOD FOR DETECTING GENE MUTATION AND METHOD FOR DIFFERENTIATING SOMATIC CELL MUTATION FROM GERM CELL LINE MUTATION
Document Type and Number:
WIPO Patent Application WO/2023/027083
Kind Code:
A1
Abstract:
Provided are a method for detecting a gene mutation using an FFPE tissue section containing tumor cells regardless of the percentage of tumor cells, the method being capable of increasing the number of detectable gene mutations and mutant allele frequency, and a method capable of differentiating, even in the absence of blood samples, a somatic cell mutation from a germ cell line mutation. A method for detecting a gene mutation according to the present invention comprises: a dissociation step for dissociating a single cell group from a formalin-fixed paraffin-embedded tissue section containing tumor cells; a separation step for obtaining a tumor fraction containing the tumor cells from the single cell group; a collection step for collecting a nucleic acid molecule from the tumor fraction; and a sequencing step for subjecting the nucleic acid molecule to sequencing.
Inventors:
HATAKEYAMA KEIICHI (JP)
SUGINO TAKASHI (JP)
MURAMATSU KOJI (JP)
OHSHIMA KEIICHI (JP)
KENMOTSU HIROTSUGU (JP)
URAKAMI KENICHI (JP)
SHIMODA YUJI (JP)
NAGASHIMA TAKESHI (JP)
KAWANISHI YUICHI (JP)
FUKUMURA RYUTARO (JP)
SUGINO TAKASHI (JP)
MURAMATSU KOJI (JP)
OHSHIMA KEIICHI (JP)
KENMOTSU HIROTSUGU (JP)
URAKAMI KENICHI (JP)
SHIMODA YUJI (JP)
NAGASHIMA TAKESHI (JP)
KAWANISHI YUICHI (JP)
FUKUMURA RYUTARO (JP)
Application Number:
PCT/JP2022/031772
Publication Date:
March 02, 2023
Filing Date:
August 23, 2022
Export Citation:
Assignee:
SHIZUOKA PREFECTURE (JP)
SRL & SHIZUOKA CANCER CENTER COLLABORATIVE LABORATORIES INC (JP)
SRL & SHIZUOKA CANCER CENTER COLLABORATIVE LABORATORIES INC (JP)
International Classes:
C12Q1/6806; C12Q1/6869; G01N33/543; C07K16/18; C07K17/00; C12N5/09; C12N15/12; G01N33/48
Foreign References:
| JP2020530767A | 2020-10-29 | |||
| JP2020516890A | 2020-06-11 | |||
| JP2012507733A | 2012-03-29 | |||
| JP2011163830A | 2011-08-25 |
Other References:
BOLOGNESI CHIARA, FORCATO CLAUDIO, BUSON GENNY, FONTANA FRANCESCA, MANGANO CHIARA, DOFFINI ANNA, SERO VALERIA, LANZELLOTTO ROSSANA: "Digital Sorting of Pure Cell Populations Enables Unambiguous Genetic Analysis of Heterogeneous Formalin-Fixed Paraffin-Embedded Tumors by Next Generation Sequencing", SCIENTIFIC REPORTS, vol. 6, no. 1, XP093038931, DOI: 10.1038/srep20944
ANTOLOVIC DALIBOR; GALINDO LUIS; CARSTENS ANINA; RAHBARI NUH; BüCHLER MARKUS W; WEITZ JüRGEN; KOCH MORITZ: "Heterogeneous detection of circulating tumor cells in patients with colorectal cancer by immunomagnetic enrichment using different EpCAM-specific antibodies", BMC BIOTECHNOLOGY, BIOMED CENTRAL LTD, vol. 10, no. 1, 28 April 2010 (2010-04-28), pages 35, XP021076432, ISSN: 1472-6750, DOI: 10.1186/1472-6750-10-35
DENG GLENN; HERRLER MICHAEL; BURGESS DAVID; MANNA EDWARD; KRAG DAVID; BURKE JULIAN F: "Enrichment with anti-cytokeratin alone or combined with anti-EpCAM antibodies significantly increases the sensitivity for circulating tumor cell detection in metastatic breast cancer patients", BREAST CANCER RESEARCH, CURRENT MEDICINE GROUP LTD., GB, vol. 10, no. 4, 7 August 2008 (2008-08-07), GB , pages R69, XP021046848, ISSN: 1465-5411, DOI: 10.1186/bcr2131
ANTOLOVIC DALIBOR; GALINDO LUIS; CARSTENS ANINA; RAHBARI NUH; BüCHLER MARKUS W; WEITZ JüRGEN; KOCH MORITZ: "Heterogeneous detection of circulating tumor cells in patients with colorectal cancer by immunomagnetic enrichment using different EpCAM-specific antibodies", BMC BIOTECHNOLOGY, BIOMED CENTRAL LTD, vol. 10, no. 1, 28 April 2010 (2010-04-28), pages 35, XP021076432, ISSN: 1472-6750, DOI: 10.1186/1472-6750-10-35
DENG GLENN; HERRLER MICHAEL; BURGESS DAVID; MANNA EDWARD; KRAG DAVID; BURKE JULIAN F: "Enrichment with anti-cytokeratin alone or combined with anti-EpCAM antibodies significantly increases the sensitivity for circulating tumor cell detection in metastatic breast cancer patients", BREAST CANCER RESEARCH, CURRENT MEDICINE GROUP LTD., GB, vol. 10, no. 4, 7 August 2008 (2008-08-07), GB , pages R69, XP021046848, ISSN: 1465-5411, DOI: 10.1186/bcr2131
Attorney, Agent or Firm:
SHOBAYASHI Masayuki et al. (JP)
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