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Primary Clonal Loss of Mismatch Repair Protein on Immunohistochemistry: A Pattern of Abnormality That Warrants Genetic Workup

Primary Clonal Loss of Mismatch Repair Protein on Immunohistochemistry: A Pattern of Abnormality... case reports Primary Clonal Loss of Mismatch Repair Protein on Immunohistochemistry: A Pattern of Abnormality That Warrants Genetic Workup 1,2 1 1 3 3 Christine Orr, MD ; Chiyun Wang, MD ; Canan Firat, MD ; Louise C. Connell, MBBCh ; Margaret R. Sheehan, MS ; 1 3 1 Efsevia Vakiani, MD, PhD ;Zsofia K. Stadler, MD ; and Jinru Shia, MD JCO Precis Oncol 6:e2200111. © 2022 by American Society of Clinical Oncology Introduction clonal loss of both MLH1 and PMS2 that is associated with clonal MLH1 promoter hypermethylation. In an- DNA mismatch repair (MMR) protein immunohisto- other analysis of 491 colorectal carcinomas (CRCs), chemistry (IHC) has been serving as a major test mo- Jaffrelot et al identified three CRCs showing similar dality for detecting MMR deficiency (MMRd) in solid clonal loss; two of the three were associated with a neoplasms to screen for patients with Lynch syndrome germline variant (one in MLH1 and one in PMS2). The (LS)–associated cancers and to identify potential im- authors reported that all three tumors were MSI-high. It munotherapy candidates. Its accuracy has been shown is unclear whether MSI testing was performed on the to be comparable with that of microsatellite instability http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JCO: Precision Oncology Wolters Kluwer Health

Primary Clonal Loss of Mismatch Repair Protein on Immunohistochemistry: A Pattern of Abnormality That Warrants Genetic Workup

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Publisher
Wolters Kluwer Health
Copyright
© 2022 by American Society of Clinical Oncology
eISSN
2473-4284
DOI
10.1200/po.22.00111
Publisher site
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Abstract

case reports Primary Clonal Loss of Mismatch Repair Protein on Immunohistochemistry: A Pattern of Abnormality That Warrants Genetic Workup 1,2 1 1 3 3 Christine Orr, MD ; Chiyun Wang, MD ; Canan Firat, MD ; Louise C. Connell, MBBCh ; Margaret R. Sheehan, MS ; 1 3 1 Efsevia Vakiani, MD, PhD ;Zsofia K. Stadler, MD ; and Jinru Shia, MD JCO Precis Oncol 6:e2200111. © 2022 by American Society of Clinical Oncology Introduction clonal loss of both MLH1 and PMS2 that is associated with clonal MLH1 promoter hypermethylation. In an- DNA mismatch repair (MMR) protein immunohisto- other analysis of 491 colorectal carcinomas (CRCs), chemistry (IHC) has been serving as a major test mo- Jaffrelot et al identified three CRCs showing similar dality for detecting MMR deficiency (MMRd) in solid clonal loss; two of the three were associated with a neoplasms to screen for patients with Lynch syndrome germline variant (one in MLH1 and one in PMS2). The (LS)–associated cancers and to identify potential im- authors reported that all three tumors were MSI-high. It munotherapy candidates. Its accuracy has been shown is unclear whether MSI testing was performed on the to be comparable with that of microsatellite instability

Journal

JCO: Precision Oncology – Wolters Kluwer Health

Published: Jun 14, 2022

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