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Article

Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.

The Journal of clinical investigation - 15 Sept 2021

Schratz Kristen E, Gaysinskaya Valeriya, Cosner Zoe L, DeBoy Emily A, Xiang Zhimin, Kasch-Semenza Laura, Florea Liliana, Shah Pali D, Armanios Mary

Abstract excerpt

BACKGROUNDGermline mutations in telomerase and other telomere maintenance genes manifest in the premature aging short telomere syndromes. Myelodysplastic syndromes and acute myeloid leukemia (MDS/AML) account for 75% of associated malignancies, but how these cancers overcome the inherited telomere defect is unknown.METHODSWe used ultra-deep targeted sequencing to detect somatic reversion mutations in 17 candidate...

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Share to Leukemia, Myeloid, Acute
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34343137
DOI: 10.1172/JCI147598
PMCID: PMC8439599

Genes

POT1
DIS3
RBM7
TERF2IP
TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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