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

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

Familial cancer - 6 Apr 2026

Crocioni Maria, Nardelli Carlotta, Lema Fernandez Anair Graciela, Bardelli Valentina, Pierini Valentina, Matteucci Caterina, Beggiato Eloise, Olivi Matteo, Vigliani Valentina, Pelle Alessandra, Lanzarone Giuseppe, Mecucci Cristina

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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

Share to RUNX1 gene
Share to Core Binding Factor Alpha 2 Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

Share to Leukemia, Myeloid, Acute

Share to Pedigree

Share to Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Source

Open in PubMed Open full text

Identifiers

PMID: 41941013
DOI: 10.1007/s10689-026-00550-7
PMCID: PMC13053502

Genes

RUNX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new c.681dup RUNX1 variant in familial leukemia.PMID 41941013Read ↗

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndromeSemantic proximity Read ↗

A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals.Semantic proximity Read ↗

High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.Semantic proximity Read ↗

B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.Semantic proximity Read ↗

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.Semantic proximity Read ↗

A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome.Semantic proximity Read ↗

Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.Semantic proximity Read ↗

Unrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.Semantic proximity Read ↗

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.Semantic proximity Read ↗

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.Semantic proximity Read ↗

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)Semantic proximity Read ↗

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.Semantic proximity Read ↗

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