Evidence map›Paper›PMID 40133691›Full record

SynthesisJournal of gastrointestinal cancer2025

Microsatellite Stable Colorectal Tumours in Patients with Lynch Syndrome: A Case Report and Systematic Review Analysing Clinical Features and Implications for Immunotherapy.

Fani Kapoulitsa, Davide Mauri, Konstantinos K Tsilidis, Konstantinos Katsanos, Eleni Timotheadou, Maria Smaragdi Vlachou, Konstantinos Kamposioras

Abstract readSystematic ReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Journal of gastrointestinal cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
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

7 authors.

Fani KapoulitsaDepartment of Medical Oncology, University of Ioannina, Ioannina, Greece.
Davide MauriDepartment of Medical Oncology, University of Ioannina, Ioannina, Greece.
Konstantinos K TsilidisDepartment of Hygiene and Epidemiology, University of Ioannina, Ioannina, Greece.
Konstantinos KatsanosDepartment of Gastroenterology, University of Ioannina, Ioannina, Greece.
Eleni TimotheadouDepartment of Medical Oncology, Aristotle University of Thessaloniki, Papageorgiou Hospital, Thessaloniki, Greece.
Maria Smaragdi VlachouDepartment of Medical Oncology, University of Ioannina, Ioannina, Greece.
Konstantinos KamposiorasDepartment of Medical Oncology, The Christie NHS Foundation Trust, Manchester, UK. konstantinos.kamposioras@nhs.net.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeLynch syndrome is an autosomal dominant genetic disorder associated with early-onset colorectal cancer (CRC), endometrial cancer and other malignancies. This condition is defined by deficient DNA mismatch repair and high microsatellite instability (dMMR/MSI-high), exhibiting a substantial response to immunotherapy. However, microsatellite-stable (MSS) tumours may infrequently occur in individuals with Lynch syndrome. Our aim was to evaluate the efficacy of immunotherapy in patients with Lynch Syndrome and dMMR/MSS colorectal cancer.

methodsA systematic review of the literature in medical databases, major related conferences and relevant oncology journals was conducted to identify the available evidence. Medical records from the Medical and Clinical Oncology Department of the University Hospital of Ioannina were also reviewed.

resultsFour cases of MSS colorectal cancer associated with Lynch syndrome and MSH6 germline mutation were identified. Three of these four patients were treated with immune checkpoint inhibitors. Two patients with metastatic disease experienced disease progression, but one patient who received neoadjuvant immunotherapy achieved a partial response. All four patients were diagnosed with colorectal cancer in ages younger than 52 (16-51 years old).

conclusionMSS CRC tumours in patients with Lynch syndrome is an infrequent phenomenon and under-represented in the literature. The limited efficacy of immune checkpoint inhibitors is highlighted in this rare subset of patients.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisImmune Checkpoint InhibitorsImmunotherapyMicrosatellite InstabilityAdolescentAdultDNA-Binding ProteinsGerm-Line MutationHumansMiddle AgedYoung AdultDNA-Binding ProteinsG-T mismatch-binding proteinImmune Checkpoint InhibitorsDMMR/MSSDNA mismatch repair (MMR)Immune checkpoint inhibitors (ICI)Lynch SyndromeMicrosatellite stability (MSS)

Identifiers

PMID40133691
PMCPMC11937178

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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.