Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype.

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Title: Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype.
Authors: Tay TKY; Duke-NUS Medical School, Singapore, Singapore. timothy.tay.k.y@singhealth.com.sg.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore. timothy.tay.k.y@singhealth.com.sg., Tan GS; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Lee SH; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Chan CS; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Ng JWK; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Chen EX; Department of Microbiology, Singapore General Hospital, Singapore, Singapore., Tay AZE; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Quesada UM; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Khoo WS; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore., Lim TKH; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.
Source: Virchows Archiv : an international journal of pathology [Virchows Arch] 2026 Jun 29. Date of Electronic Publication: 2026 Jun 29.
Publication Type: Journal Article
Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2307 (Electronic) Linking ISSN: 09456317 NLM ISO Abbreviation: Virchows Arch Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Tay+TKY%22">Tay TKY</searchLink>; Duke-NUS Medical School, Singapore, Singapore. timothy.tay.k.y@singhealth.com.sg.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore. timothy.tay.k.y@singhealth.com.sg.<br /><searchLink fieldCode="AU" term="%22Tan+GS%22">Tan GS</searchLink>; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Lee+SH%22">Lee SH</searchLink>; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Chan+CS%22">Chan CS</searchLink>; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Ng+JWK%22">Ng JWK</searchLink>; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Chen+EX%22">Chen EX</searchLink>; Department of Microbiology, Singapore General Hospital, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Tay+AZE%22">Tay AZE</searchLink>; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Quesada+UM%22">Quesada UM</searchLink>; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Khoo+WS%22">Khoo WS</searchLink>; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.<br /><searchLink fieldCode="AU" term="%22Lim+TKH%22">Lim TKH</searchLink>; Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostic Tower Level 10, Singapore, 169856, Singapore.
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  Data: <searchLink fieldCode="JN" term="%229423843%22">Virchows Archiv : an international journal of pathology</searchLink> [Virchows Arch] 2026 Jun 29. <i>Date of Electronic Publication: </i>2026 Jun 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+International%22">Springer International </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9423843 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-2307 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209456317%22">09456317 </searchLink><i>NLM ISO Abbreviation: </i>Virchows Arch <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1007/s00428-026-04629-5
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      – Code: eng
        Text: English
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      – TitleFull: Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype.
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            – D: 29
              M: 06
              Text: 2026 Jun 29
              Type: published
              Y: 2026
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