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Article

Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.

Leukemia - 1 Apr 2014

Menezes J, Acquadro F, Wiseman M, Gómez-López G, Salgado R N, Talavera-Casañas J G, Buño I, Cervera J V, Montes-Moreno S, Hernández-Rivas J M, Ayala R, Calasanz M J, Larrayoz M J, Brichs L F, Gonzalez-Vicent M, Pisano D G, Piris M A, Álvarez S, Cigudosa J C

Abstract excerpt

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare disease that currently lacks genomic and genetic biomarkers to assist in its clinical management. We performed whole-exome sequencing (WES) of three BPDCN cases. Based on these data, we designed a resequencing approach to identify mutations in 38 selected genes in 25 BPDCN samples. WES revealed 37-99 deleterious gene mutations per exome with no...

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Source

Identifiers

PMID: 24072100
DOI: 10.1038/leu.2013.283

Genes

IKZF3
ZEB2
HOXB9
TET2

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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