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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
Description
ISSN:1432-2307
DOI:10.1007/s00428-026-04629-5