Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review

Background. Given limited data on the epidemiology of MSI-H and dMMR across solid tumors (except colorectal cancer (CRC)), the current study was designed to estimate their prevalence. Materials and Methods. A structured literature review identified English language publications that used immunohisto...

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Main Authors: Maria Lorenzi, Mayur Amonkar, Jacky Zhang, Shivani Mehta, Kai-Li Liaw
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Journal of Oncology
Online Access:http://dx.doi.org/10.1155/2020/1807929
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spelling doaj-5944dbc96d664521aea1609efc64a6552020-11-25T03:20:41ZengHindawi LimitedJournal of Oncology1687-84501687-84692020-01-01202010.1155/2020/18079291807929Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature ReviewMaria Lorenzi0Mayur Amonkar1Jacky Zhang2Shivani Mehta3Kai-Li Liaw4Precision Xtract, Oakland, CA, USAMerck & Co, Inc., North Wales, PA, USAPrecision Xtract, Oakland, CA, USAPrecision Xtract, Oakland, CA, USAMerck & Co, Inc., North Wales, PA, USABackground. Given limited data on the epidemiology of MSI-H and dMMR across solid tumors (except colorectal cancer (CRC)), the current study was designed to estimate their prevalence. Materials and Methods. A structured literature review identified English language publications that used immunohistochemistry (IHC) or polymerase chain replication (PCR) techniques. Publications were selected for all tumors except CRC using MEDLINE, EMBASE, and Cochrane databases and key congresses; CRC and pan-tumor genomic publications were selected through a targeted review. Meta-analysis was performed to estimate pooled prevalence of MSI-H/dMMR across all solid tumors and for selected tumor types. Where possible, prevalence within tumor types was estimated by disease stages. Results. Of 1,176 citations retrieved, 103 and 48 publications reported prevalence of MSI-H and dMMR, respectively. Five pan-tumor genomic studies supplemented the evidence base. Tumor types with at least 5 publications included gastric (n = 39), ovarian (n = 23), colorectal (n = 20), endometrial (n = 53), esophageal (n = 6), and renal cancer (n = 8). Overall MSI-H prevalence (with 95% CI) across 25 tumors was based on 90 papers (28,213 patients) and estimated at 14% (10%–19%). MSI-H prevalence among Stage 1/2 cancers was estimated at 15% (8%–23%); Stages 3 and 4 prevalence was estimated at 9% (3%–17%) and 3% (1%–7%), respectively. Overall, dMMR prevalence across 13 tumor types (based on 54 papers and 20,383 patients) was estimated at 16% (11%–22%). Endometrial cancer had the highest pooled MSI-H and dMMR prevalence (26% and 25% all stages, respectively). Conclusions. This is the first comprehensive attempt to report pooled prevalence estimates of MSI-H/dMMR across solid tumors based on published data. Prevalence determined by IHC and PCR was generally comparable, with some variations by cancer type. Late-stage prevalence was lower than that in earlier stages.http://dx.doi.org/10.1155/2020/1807929
collection DOAJ
language English
format Article
sources DOAJ
author Maria Lorenzi
Mayur Amonkar
Jacky Zhang
Shivani Mehta
Kai-Li Liaw
spellingShingle Maria Lorenzi
Mayur Amonkar
Jacky Zhang
Shivani Mehta
Kai-Li Liaw
Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
Journal of Oncology
author_facet Maria Lorenzi
Mayur Amonkar
Jacky Zhang
Shivani Mehta
Kai-Li Liaw
author_sort Maria Lorenzi
title Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
title_short Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
title_full Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
title_fullStr Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
title_full_unstemmed Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review
title_sort epidemiology of microsatellite instability high (msi-h) and deficient mismatch repair (dmmr) in solid tumors: a structured literature review
publisher Hindawi Limited
series Journal of Oncology
issn 1687-8450
1687-8469
publishDate 2020-01-01
description Background. Given limited data on the epidemiology of MSI-H and dMMR across solid tumors (except colorectal cancer (CRC)), the current study was designed to estimate their prevalence. Materials and Methods. A structured literature review identified English language publications that used immunohistochemistry (IHC) or polymerase chain replication (PCR) techniques. Publications were selected for all tumors except CRC using MEDLINE, EMBASE, and Cochrane databases and key congresses; CRC and pan-tumor genomic publications were selected through a targeted review. Meta-analysis was performed to estimate pooled prevalence of MSI-H/dMMR across all solid tumors and for selected tumor types. Where possible, prevalence within tumor types was estimated by disease stages. Results. Of 1,176 citations retrieved, 103 and 48 publications reported prevalence of MSI-H and dMMR, respectively. Five pan-tumor genomic studies supplemented the evidence base. Tumor types with at least 5 publications included gastric (n = 39), ovarian (n = 23), colorectal (n = 20), endometrial (n = 53), esophageal (n = 6), and renal cancer (n = 8). Overall MSI-H prevalence (with 95% CI) across 25 tumors was based on 90 papers (28,213 patients) and estimated at 14% (10%–19%). MSI-H prevalence among Stage 1/2 cancers was estimated at 15% (8%–23%); Stages 3 and 4 prevalence was estimated at 9% (3%–17%) and 3% (1%–7%), respectively. Overall, dMMR prevalence across 13 tumor types (based on 54 papers and 20,383 patients) was estimated at 16% (11%–22%). Endometrial cancer had the highest pooled MSI-H and dMMR prevalence (26% and 25% all stages, respectively). Conclusions. This is the first comprehensive attempt to report pooled prevalence estimates of MSI-H/dMMR across solid tumors based on published data. Prevalence determined by IHC and PCR was generally comparable, with some variations by cancer type. Late-stage prevalence was lower than that in earlier stages.
url http://dx.doi.org/10.1155/2020/1807929
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