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

The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia

23 Mar 2023

Abstract excerpt

Biallelic germ line excision repair cross-complementing 6 like 2 (ERCC6L2) variants strongly predispose to bone marrow failure (BMF) and myeloid malignancies, characterized by somatic TP53-mutated clones and erythroid predominance. We present a series of 52 subjects (35 families) with ERCC6L2 biallelic germ line variants collected retrospectively from 11 centers globally, with a follow-up of 1165 person-years. At...

Read the complete abstract on PubMed

Topics

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

Share to Acute Myeloid Leukemia Research
Share to Chronic Lymphocytic Leukemia Research
Share to Lymphoma Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36952636
DOI: 10.1182/blood.2022019425

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

The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute LeukemiaPMID 36952636Read ↗

ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolutionSemantic proximity Read ↗

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Semantic proximity Read ↗

Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironmentSemantic proximity Read ↗

ERCC6L2-associated inherited bone marrow failure syndrome.Semantic proximity Read ↗

Distinct Stem Cell Identities Converge into Shared Erythroid Stress in ERCC6L2 Disease and Shwachman-Diamond SyndromeSemantic proximity Read ↗

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.Semantic proximity Read ↗

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzleSemantic proximity Read ↗

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 geneSemantic proximity Read ↗

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.Semantic proximity Read ↗

Different mutations of the human c-mpl gene indicate distinct haematopoietic diseases.Semantic proximity Read ↗

Predisposition to ALL and Solid Tumors Rather Than Bone Marrow Failure in FANCM-Associated Fanconi Anemia.Semantic proximity Read ↗

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.Semantic proximity Read ↗

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