Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.

Current oncology (Toronto, Ont.) - 6 Oct 2023

Preti Beatrice, Schenkel Laila, Cecchini Matthew, Romagnoli Tommaso, Sanatani Michael Susmoy, French Karissa, Colquhoun Patrick, Vincent Mark David

Abstract excerpt

We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (MLH1:c.1288G > T, p.(Glu430*)), who presented with two synchronous colonic tumours, initially deemed unresectable, and experienced a complete pathological response on neoadjuvant pembrolizumab. Extensive genetic testing revealed post-zygotic mosaicism from the novel mutation.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Colonic Neoplasms
Share to Microsatellite Instability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Mutation

Share to MutL Protein Homolog 1

Share to Neoadjuvant Therapy

Source

Open in PubMed Open full text

Identifiers

PMID: 37887553
DOI: 10.3390/curroncol30100653
PMCID: PMC10605803

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.PMID 37887553Read ↗

Pleiotropic cancer manifestations of germline CDH1 mutations: Risks and management.Semantic proximity Read ↗

Letter to the editor: rectal cancer in a 15-year-old female with a novel MLH1 and MSH6 biallelic inheritance.Semantic proximity Read ↗

A Unique Case of Rectal Cancer with Coexistence of Multiple Pathways of CarcinogenesisSemantic proximity Read ↗

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutationSemantic proximity Read ↗

Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population.Semantic proximity Read ↗

Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation.Semantic proximity Read ↗

A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis.Semantic proximity Read ↗

Pitfalls in the diagnosis of biallelic PMS2 mutations.Semantic proximity Read ↗

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report.Semantic proximity Read ↗

Case report: a glioma patient diagnosed as constitutional mismatch repair deficiency syndrome (CMMRD) with a de novo germline variant in PMS2Semantic proximity Read ↗

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.Semantic proximity Read ↗

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.