Evidence map›Paper›PMID 41243511›Full record

ArticlePathologica2025

A novel germline

Enrico Berrino, Sara Erika Bellomo, Luca Mastorino, Valeria Morbidoni, Nicola Crosetto, Anna Sapino, Ivana Sarotto, Anita Chesta, Avallone Gianluca, Pietro Quaglino and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pathologica, 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

15 authors.

Enrico Berrino *Pathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Sara Erika Bellomo *Pathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Luca MastorinoDermathology Unit, AOU Città della Salute e della Scienza di Torino, Italy.
Valeria MorbidoniClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Nicola CrosettoHuman Technopole, Milano, Italy.
Anna SapinoPathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Ivana SarottoPathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Anita ChestaPathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Avallone GianlucaDermathology Unit, AOU Città della Salute e della Scienza di Torino, Italy.
Pietro QuaglinoDepartment of Medical Sciences, University of Turin, Italy.
Daniela ZampieriPathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Rebecca SenettaPathology Unit, AOU Città della Salute e della Scienza di Torino, Italy.
Eva TrevissonClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Caterina MarchiòPathology Unit, FPO-IRCCS Candiolo Cancer Institute, Candiolo, Italy.
Simone RiberoDepartment of Medical Sciences, University of Turin, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Neurofibromatosis type-1 (NF1) patients rarely develop mucosal melanomas. We report a rare form of anorectal mucosal melanoma (ARMM) in an NF1 syndromic patient profiled for genomics and transcriptomics to assess the determinants of the response to nivolumab. Methods: Primary melanoma and metastases were analyzed with targeted sequencing and gene expression profile (tGEP). We applied Results: We detected the novel c.4269+2_4269+3delTG germline splicing variant in Conclusions: The response to nivolumab in a germline NF1-driven ARMM case seems independent from levels of TMB and PD-L1 expression and may be mediated by inflammatory response induced by M1-polarized macrophages.

Indexed as

Antineoplastic Agents, ImmunologicalAnus NeoplasmsMelanomaNeurofibromatosis 1Neurofibromin 1NivolumabRectal NeoplasmsGerm-Line MutationHumansAntineoplastic Agents, ImmunologicalNeurofibromin 1NF1 protein, humanNivolumabanorectal mucosal melanomalow TMBM1 macrophagesNF1 syndromenivolumabPD-L1 negativity

Identifiers

PMID41243511
PMCPMC12620939

What OpenQuestion holds

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Registered trials

None linked

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.