Evidence map›Paper›PMID 40970973›Full record

ArticleVirchows Archiv : an international journal of pathology2025

Metastatic mismatch repair deficient oesophageal squamous cell carcinoma leading to diagnosis of Lynch syndrome with a complete response to nivolumab treatment.

H H Wang, G Kats-Ugurlu, R H Sijmons, J L Kluiver, S Z Commandeur-Jan, W Noordzij, B van Etten, J T M Plukker, G A P Hospers, D G Knapen

Abstract read
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Article in Virchows Archiv : an international journal of pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

H H WangDepartment of Pathology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. h.h.wang@umcg.nl.ORCID http://orcid.org/0000-0002-2077-5765
G Kats-UgurluDepartment of Pathology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
R H SijmonsDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
J L KluiverDepartment of Pathology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
S Z Commandeur-JanDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
W NoordzijMedical Imaging Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
B van EttenDepartment of Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
J T M PlukkerDepartment of Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
G A P HospersDepartment of Medical Oncology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, the Netherlands.
D G KnapenDepartment of Medical Oncology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 59-year-old woman with two colorectal adenocarcinomas in 2015 and 2022 (both with loss of MSH2 and focal presence of MSH6 protein, thus MMR-deficient profile) had a variant of c.1012G > C p.(Gly338Arg) in the MSH2 gene, classified as Variant of Uncertain Significance (VUS) in 2023. That year, she was also diagnosed with oesophageal squamous cell carcinoma (ESCC), again MMR-deficient. Although uncommon, a proportion of ESCC can be MMR-deficient. The ESCC showed complete response to nivolumab. Genetic studies of the three tumours showed the same germline variant. During follow-up, the tumour board requested a reclassification of the VUS due to suspected Lynch syndrome. This time the genetic variant was classified as likely pathogenic, confirming Lynch syndrome in May 2025. This case highlights the importance of additional MMR profile evaluation in patients with multiple tumours, even if tumour types are unusual. Such evaluation may improve individual treatment and classification of syndrome-associated tumours.

Indexed as

ImmunotherapyLynch syndromeMicrosatellite instabilityOesophageal cancerSquamous cell carcinoma

Identifiers

PMID40970973

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.