Molecular testing for gastrointestinal cancer

The Gastrointestinal Pathology Study Group of Korean Society of Pathologists, The Molecular Pathology Study Group of Korean Society of Pathologists

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wildtype RAS (KRAS and NRAS exon 2-4). A BRAF mutation is required for predicting poor prognosis. Additionally, amplification of human epidermal growth factor receptor 2 (HER2) and MET is also associated with resistance to EGFR inhibitor in metastatic CRC patients. The BRAF V600E mutation is found in sporadic microsatellite unstable CRCs, and thus is helpful for ruling out Lynch syndrome. In addition, the KRAS mutation is a prognostic biomarker and the PIK3CA mutation is a molecular biomarker predicting response to phosphoinositide 3-kinase/AKT/mammalian target of rapamycin inhibitors and response to aspirin therapy in CRC patients. Additionally, HER2 testing should be performed in all recurrent or metastatic GCs. If the results of HER2 immunohistochemistry are equivocal, HER2 silver or fluorescence in situ hybridization testing are essential for confirmative determination of HER2 status. Epstein-Barr virus-positive GCs have distinct characteristics, including heavy lymphoid stroma, hypermethylation phenotype, and high expression of immune modulators. Recent advances in next-generation sequencing technologies enable us to examine various genetic alterations using a single test. Pathologists play a crucial role in ensuring reliable molecular testing and they should also take an integral role between molecular laboratories and clinicians.

Original languageEnglish
Pages (from-to)103-121
Number of pages19
JournalJournal of Pathology and Translational Medicine
Volume51
Issue number2
DOIs
Publication statusPublished - 2017 Jan 1

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Gastrointestinal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Colorectal Neoplasms
Mutation
Epidermal Growth Factor Receptor
Biomarkers
Microsatellite Instability
1-Phosphatidylinositol 4-Kinase
Molecular Pathology
Sirolimus
Fluorescence In Situ Hybridization
Human Herpesvirus 4
Silver
Microsatellite Repeats
Protein-Tyrosine Kinases
Immunotherapy
Aspirin
Stomach Neoplasms
Exons
Immunohistochemistry

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology

Cite this

The Gastrointestinal Pathology Study Group of Korean Society of Pathologists, & The Molecular Pathology Study Group of Korean Society of Pathologists (2017). Molecular testing for gastrointestinal cancer. Journal of Pathology and Translational Medicine, 51(2), 103-121. https://doi.org/10.4132/jptm.2017.01.24
The Gastrointestinal Pathology Study Group of Korean Society of Pathologists ; The Molecular Pathology Study Group of Korean Society of Pathologists. / Molecular testing for gastrointestinal cancer. In: Journal of Pathology and Translational Medicine. 2017 ; Vol. 51, No. 2. pp. 103-121.
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abstract = "With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wildtype RAS (KRAS and NRAS exon 2-4). A BRAF mutation is required for predicting poor prognosis. Additionally, amplification of human epidermal growth factor receptor 2 (HER2) and MET is also associated with resistance to EGFR inhibitor in metastatic CRC patients. The BRAF V600E mutation is found in sporadic microsatellite unstable CRCs, and thus is helpful for ruling out Lynch syndrome. In addition, the KRAS mutation is a prognostic biomarker and the PIK3CA mutation is a molecular biomarker predicting response to phosphoinositide 3-kinase/AKT/mammalian target of rapamycin inhibitors and response to aspirin therapy in CRC patients. Additionally, HER2 testing should be performed in all recurrent or metastatic GCs. If the results of HER2 immunohistochemistry are equivocal, HER2 silver or fluorescence in situ hybridization testing are essential for confirmative determination of HER2 status. Epstein-Barr virus-positive GCs have distinct characteristics, including heavy lymphoid stroma, hypermethylation phenotype, and high expression of immune modulators. Recent advances in next-generation sequencing technologies enable us to examine various genetic alterations using a single test. Pathologists play a crucial role in ensuring reliable molecular testing and they should also take an integral role between molecular laboratories and clinicians.",
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The Gastrointestinal Pathology Study Group of Korean Society of Pathologists & The Molecular Pathology Study Group of Korean Society of Pathologists 2017, 'Molecular testing for gastrointestinal cancer', Journal of Pathology and Translational Medicine, vol. 51, no. 2, pp. 103-121. https://doi.org/10.4132/jptm.2017.01.24

Molecular testing for gastrointestinal cancer. / The Gastrointestinal Pathology Study Group of Korean Society of Pathologists; The Molecular Pathology Study Group of Korean Society of Pathologists.

In: Journal of Pathology and Translational Medicine, Vol. 51, No. 2, 01.01.2017, p. 103-121.

Research output: Contribution to journalArticle

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T1 - Molecular testing for gastrointestinal cancer

AU - The Gastrointestinal Pathology Study Group of Korean Society of Pathologists

AU - The Molecular Pathology Study Group of Korean Society of Pathologists

AU - Lee, Hye Seung

AU - Kim, Woo Ho

AU - Kwak, Yoonjin

AU - Koh, Jiwon

AU - Bae, Jeong Mo

AU - Kim, Kyoung Mee

AU - Chang, Mee Soo

AU - Han, Hye Seung

AU - Kim, Joon Mee

AU - Kim, Hwal Woong

AU - Chang, Hee Kyung

AU - Choi, Young Hee

AU - Park, Ji Y.

AU - Gu, Mi Jin

AU - Lhee, Min Jin

AU - Kim, Jung Yeon

AU - Kim, Hee Sung

AU - Cho, Meeyon

PY - 2017/1/1

Y1 - 2017/1/1

N2 - With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wildtype RAS (KRAS and NRAS exon 2-4). A BRAF mutation is required for predicting poor prognosis. Additionally, amplification of human epidermal growth factor receptor 2 (HER2) and MET is also associated with resistance to EGFR inhibitor in metastatic CRC patients. The BRAF V600E mutation is found in sporadic microsatellite unstable CRCs, and thus is helpful for ruling out Lynch syndrome. In addition, the KRAS mutation is a prognostic biomarker and the PIK3CA mutation is a molecular biomarker predicting response to phosphoinositide 3-kinase/AKT/mammalian target of rapamycin inhibitors and response to aspirin therapy in CRC patients. Additionally, HER2 testing should be performed in all recurrent or metastatic GCs. If the results of HER2 immunohistochemistry are equivocal, HER2 silver or fluorescence in situ hybridization testing are essential for confirmative determination of HER2 status. Epstein-Barr virus-positive GCs have distinct characteristics, including heavy lymphoid stroma, hypermethylation phenotype, and high expression of immune modulators. Recent advances in next-generation sequencing technologies enable us to examine various genetic alterations using a single test. Pathologists play a crucial role in ensuring reliable molecular testing and they should also take an integral role between molecular laboratories and clinicians.

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The Gastrointestinal Pathology Study Group of Korean Society of Pathologists, The Molecular Pathology Study Group of Korean Society of Pathologists. Molecular testing for gastrointestinal cancer. Journal of Pathology and Translational Medicine. 2017 Jan 1;51(2):103-121. https://doi.org/10.4132/jptm.2017.01.24