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Article

Clonal Signatures of Telomere Biology Disorders.

Current hematologic malignancy reports - 14 Apr 2026

Arcuri Luca, Groarke Emma M, Savage Sharon A, Gutierrez-Rodrigues Fernanda

Abstract excerpt

PURPOSE OF REVIEW: In inherited bone marrow failure syndromes (IBMFS), clonal hematopoiesis (CH) has been increasingly recognized as a molecular fingerprint of the underlying pathophysiology. A specific clonal profile has been reported in telomere biology disorders (TBDs), an IBMFS caused by pathogenic germline variants (PGV) in genes related to telomere maintenance and characterized by short/dysfunctional...

Topics

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Clonal Hematopoiesis
Mutation
Neoplasms
Shelterin Complex
Telomerase
Telomere

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Telomere-Binding Proteins

Telomere Homeostasis

Source

Open in PubMed Open full text

Identifiers

PMID: 41979702
DOI: 10.1007/s11899-026-00777-2
PMCID: PMC13079480

Genes

POT1
PPM1D
TERT
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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