Evidence map›Paper›PMID 41941013›Full record

ArticleFamilial cancer2026

A new c.681dup RUNX1 variant in familial leukemia.

Maria Crocioni, Carlotta Nardelli, Anair Graciela Lema Fernandez, Valentina Bardelli, Valentina Pierini, Caterina Matteucci, Eloise Beggiato, Matteo Olivi, Valentina Vigliani, Alessandra Pelle and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Familial cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

12 authors.

Maria CrocioniInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Carlotta NardelliInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Anair Graciela Lema FernandezInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Valentina BardelliInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Valentina PieriniInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Caterina MatteucciInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy.
Eloise BeggiatoDivision of Hematology, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy.
Matteo OliviSSD Ematologia e Malattie Trombotiche, ASL Città di Torino, Turin, Italy.
Valentina ViglianiDipartimento di scienze mediche, Università degli studi di Torino, SC Genetica Medica U, AOU Città della salute e della scienza di Torino, Turin, Italy.
Alessandra PelleSC Genetica Medica U, AOU Città della salute e della scienza di Torino, Molinette Hospital, Turin, Italy.
Giuseppe LanzaroneDivision of Hematology, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy.
Cristina MecucciInstitute of Hematology and Center for Hemato-Oncology Research, University of Perugia and Santa Maria della Misericordia Hospital, Perugia, Italy. cristina.mecucci@unipg.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional RUNX1 gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic RUNX1 (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.

Indexed as

Core Binding Factor Alpha 2 SubunitLeukemia, Myeloid, AcutePrecursor T-Cell Lymphoblastic Leukemia-LymphomaAdultFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMalePedigreeCore Binding Factor Alpha 2 SubunitRUNX1 protein, humanFriedreich AtaxiaLeukemia predispositionRUNX1 variant

Identifiers

PMID41941013
PMCPMC13053502

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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.