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Article

Not Missing the Notch: Detection Challenges of Juxtamembrane NOTCH1 Variant Detection in T-Cell Acute Lymphoblastic Leukemia.

Journal of clinical laboratory analysis - 1 Aug 2026

Beas Francisco, Hutter Stephan, Balbastre-Úbeda Ferran, Novoa-Jáuregui Sandra, Gabarrós-Subirà Maria, Genescà Eulalia, Pölönen Petri, Haferlach Torsten, Jerez Andrés

Abstract excerpt

BACKGROUND: Activating mutations in NOTCH1 are frequent in T-cell acute lymphoblastic leukemia (T-ALL) and, in the absence of alterations in RAS or PTEN, are associated with favorable prognosis. Besides classical heterodimerization and PEST domain mutations, juxtamembrane internal tandem duplications (JME-ITDs) represent a third class of activating variants. Their intermediate size and sequence composition can...

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Share to Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Source

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Identifiers

PMID: 42257444
DOI: 10.1002/jcla.70279
PMCID: PMC13399816

Genes

NOTCH1
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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