Evaluation of an eight marker-panel including long mononucleotide repeat markers to detect microsatellite instability in colorectal, gastric, and endometrial cancers.

Female Humans Microsatellite Instability Microsatellite Repeats / genetics Colorectal Neoplasms / genetics Endometrial Neoplasms / diagnosis
Colorectal cancer Endometrial cancer Gastric cancer Long mononucleotide repeat marker Microsatellite instability

Journal

BMC cancer
ISSN: 1471-2407
Titre abrégé: BMC Cancer
Pays: England
ID NLM: 100967800

Informations de publication

Date de publication:
13 Nov 2023
Historique:
received: 12 07 2023
accepted: 02 11 2023
medline: 14 11 2023
pubmed: 13 11 2023
entrez: 12 11 2023
Statut: epublish

Résumé

Accurate determination of microsatellite instability (MSI) status is critical for optimal treatment in cancer patients. Conventional MSI markers can sometimes display subtle shifts that are difficult to interpret, especially in non-colorectal cases. We evaluated an experimental eight marker-panel including long mononucleotide repeat (LMR) markers for detection of MSI. The eight marker-panel was comprised of five conventional markers (BAT-25, BAT-26, NR-21, NR-24, and NR-27) and three LMR markers (BAT-52, BAT-59 and BAT-62). MSI testing was performed against 300 specimens of colorectal, gastric, and endometrial cancers through PCR followed by capillary electrophoresis length analysis. The MSI testing with eight marker-panel showed 99.3% (295/297) concordance with IHC analysis excluding 3 MMR-focal deficient cases. The sensitivity of BAT-59 and BAT-62 was higher than or comparable to that of conventional markers in gastric and endometrial cancer. The mean shift size was larger in LMR markers compared to conventional markers for gastric and endometrial cancers. The MSI testing with eight maker-panel showed comparable performance with IHC analysis. The LMR markers, especially BAT-59 and BAT-62, showed high sensitivity and large shifts which can contribute to increased confidence in MSI classification, especially in gastric and endometrial cancers. Further study is needed with large number of samples for the validation of these LMR markers.

Sections du résumé

BACKGROUND BACKGROUND
Accurate determination of microsatellite instability (MSI) status is critical for optimal treatment in cancer patients. Conventional MSI markers can sometimes display subtle shifts that are difficult to interpret, especially in non-colorectal cases. We evaluated an experimental eight marker-panel including long mononucleotide repeat (LMR) markers for detection of MSI.
METHODS METHODS
The eight marker-panel was comprised of five conventional markers (BAT-25, BAT-26, NR-21, NR-24, and NR-27) and three LMR markers (BAT-52, BAT-59 and BAT-62). MSI testing was performed against 300 specimens of colorectal, gastric, and endometrial cancers through PCR followed by capillary electrophoresis length analysis.
RESULTS RESULTS
The MSI testing with eight marker-panel showed 99.3% (295/297) concordance with IHC analysis excluding 3 MMR-focal deficient cases. The sensitivity of BAT-59 and BAT-62 was higher than or comparable to that of conventional markers in gastric and endometrial cancer. The mean shift size was larger in LMR markers compared to conventional markers for gastric and endometrial cancers.
CONCLUSIONS CONCLUSIONS
The MSI testing with eight maker-panel showed comparable performance with IHC analysis. The LMR markers, especially BAT-59 and BAT-62, showed high sensitivity and large shifts which can contribute to increased confidence in MSI classification, especially in gastric and endometrial cancers. Further study is needed with large number of samples for the validation of these LMR markers.

Identifiants

DOI: 10.1186/s12885-023-11607-6 PMID: 37953261 PMC: PMC10641958
pubmed: 37953261
doi: 10.1186/s12885-023-11607-6
pii: 10.1186/s12885-023-11607-6
pmc: PMC10641958
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1100

Subventions

Organisme : Ministry of SMEs and Startups (MSS, Korea)
ID : Technology Development Program (S2638360)
Organisme : Ministry of SMEs and Startups (MSS, Korea)
ID : Technology Development Program (S2638360)

Informations de copyright

© 2023. The Author(s).

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Auteurs

Yousun Chung (Y)

Department of Laboratory Medicine, Kangdong Sacred Heart Hospital, Seoul, Republic of Korea.

Soo Kyung Nam (SK)

Department of Interdisciplinary Program in Cancer Biology, Seoul National University College of Medicine, Seoul, Republic of Korea.

Ho Eun Chang (HE)

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.

Cheol Lee (C)

Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Pathology, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

Gyeong Hoon Kang (GH)

Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Pathology, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

Hye Seung Lee (HS)

Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea. hye2@snu.ac.kr.
Department of Pathology, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. hye2@snu.ac.kr.

Kyoung Un Park (KU)

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea. m91w95pf@snu.ac.kr.
Department of Laboratory Medicine, Seoul National University Bundang Hospital, 82 Gumi-ro 173, Bundang-gu, Seongnam, 13620, Republic of Korea. m91w95pf@snu.ac.kr.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Evaluation of an eight marker-panel including...
questionsmedicales.fr › Phénomènes génétiques › Instabilité du génome › Instabilité des microsatellites › Evaluation of an eight marker-panel including...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Séquences répétées en tandem › Répétitions microsatellites › Evaluation of an eight marker-panel including...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies gastro-intestinales › Maladies intestinales › Maladies du rectum › Tumeurs colorectales › Evaluation of an eight marker-panel including...
questionsmedicales.fr › Maladies urogénitales › Tumeurs de l'appareil urogénital › Tumeurs de l'appareil génital féminin › Tumeurs de l'utérus › Tumeurs de l'endomètre › Evaluation of an eight marker-panel including...