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

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.

Klinische Padiatrie - 1 Nov 2017

Chao Mwe Mwe, Thomay Kathrin, Goehring Gudrun, Wlodarski Marcin, Pastor Victor, Schlegelberger Brigitte, Schindler Detlev, Kratz Christian Peter, Niemeyer Charlotte

Abstract excerpt

Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense,...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Sideroblastic
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fanconi Anemia

Share to Leukemia, Myeloid, Acute

Share to Mutation

Share to Myelodysplastic Syndromes

Share to Phosphoproteins

Share to RNA Splicing Factors

Source

Identifiers

PMID: 29132164
DOI: 10.1055/s-0043-117046

Genes

RUNX1

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.PMID 29132164Read ↗

Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia.Semantic proximity Read ↗

Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers.Semantic proximity Read ↗

Somatic Mutation of SF3B1, a Gene Encoding a Core Component of RNA Splicing Machinery, in Myelodysplasia with Ring SideroblastsSemantic proximity Read ↗

Many faces of SF3B1-mutated myeloid neoplasms: concurrent mutational profiles contribute to the diverse clinical and morphologic features.Semantic proximity Read ↗

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.Semantic proximity Read ↗

Founder and subclonal mutations in myelodysplastic syndromes and related myeloid neoplasms.Semantic proximity Read ↗

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.Semantic proximity Read ↗

Clinical features and biological implications of different U2AF1 mutation types in myelodysplastic syndromes.Semantic proximity Read ↗

Hereditary Predispositions to Myelodysplastic Syndrome.Semantic proximity Read ↗

Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.Semantic proximity Read ↗

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.Semantic proximity Read ↗

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.Semantic proximity Read ↗

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