A cryptic translocation leading to NUP98-PHF23 fusion in AML

Yi Ning

doi:10.1016/j.beha.2016.10.002

A cryptic translocation leading to NUP98-PHF23 fusion in AML

Yi Ning

School of Medicine

Research output: Contribution to journal › Review article › peer-review

1 Scopus citations

Abstract

Chromosome translocations leading to gene fusions have emerged as important oncogenic drivers of various types of malignancies. Detection and characterization of these fusion genes not only help diagnosis and management of specific malignancies, but also contribute to our understanding of the genetic basis and pathogenesis of these diseases. NUP98 gene encodes a 98 kDa nucleoporin, which is a component of the nuclear pore complex that mediates transport of mRNA and proteins between the nucleus and the cytoplasm. Due to its participation in translocations leading to the formation of fusion with at least 29 different partner genes, NUP98 is considered one of the most promiscuous fusion genes in hematologic malignancies. We discuss our identification and characterization of a NUP98-PHF23 fusion from a cryptic translocation in patients with acute myeloid leukemia (AML).

Original language	English (US)
Pages (from-to)	320-323
Number of pages	4
Journal	Best Practice and Research: Clinical Haematology
Volume	29
Issue number	4
DOIs	https://doi.org/10.1016/j.beha.2016.10.002
State	Published - Dec 1 2016

Keywords

Acute myeloid leukemia
Chromosome translocation
Gene fusion
NUP98-PHF23
RNA sequencing

ASJC Scopus subject areas

Oncology
Clinical Biochemistry

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10.1016/j.beha.2016.10.002

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title = "A cryptic translocation leading to NUP98-PHF23 fusion in AML",

abstract = "Chromosome translocations leading to gene fusions have emerged as important oncogenic drivers of various types of malignancies. Detection and characterization of these fusion genes not only help diagnosis and management of specific malignancies, but also contribute to our understanding of the genetic basis and pathogenesis of these diseases. NUP98 gene encodes a 98 kDa nucleoporin, which is a component of the nuclear pore complex that mediates transport of mRNA and proteins between the nucleus and the cytoplasm. Due to its participation in translocations leading to the formation of fusion with at least 29 different partner genes, NUP98 is considered one of the most promiscuous fusion genes in hematologic malignancies. We discuss our identification and characterization of a NUP98-PHF23 fusion from a cryptic translocation in patients with acute myeloid leukemia (AML).",

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N2 - Chromosome translocations leading to gene fusions have emerged as important oncogenic drivers of various types of malignancies. Detection and characterization of these fusion genes not only help diagnosis and management of specific malignancies, but also contribute to our understanding of the genetic basis and pathogenesis of these diseases. NUP98 gene encodes a 98 kDa nucleoporin, which is a component of the nuclear pore complex that mediates transport of mRNA and proteins between the nucleus and the cytoplasm. Due to its participation in translocations leading to the formation of fusion with at least 29 different partner genes, NUP98 is considered one of the most promiscuous fusion genes in hematologic malignancies. We discuss our identification and characterization of a NUP98-PHF23 fusion from a cryptic translocation in patients with acute myeloid leukemia (AML).

AB - Chromosome translocations leading to gene fusions have emerged as important oncogenic drivers of various types of malignancies. Detection and characterization of these fusion genes not only help diagnosis and management of specific malignancies, but also contribute to our understanding of the genetic basis and pathogenesis of these diseases. NUP98 gene encodes a 98 kDa nucleoporin, which is a component of the nuclear pore complex that mediates transport of mRNA and proteins between the nucleus and the cytoplasm. Due to its participation in translocations leading to the formation of fusion with at least 29 different partner genes, NUP98 is considered one of the most promiscuous fusion genes in hematologic malignancies. We discuss our identification and characterization of a NUP98-PHF23 fusion from a cryptic translocation in patients with acute myeloid leukemia (AML).

KW - Acute myeloid leukemia

KW - Chromosome translocation

KW - Gene fusion

KW - NUP98-PHF23

KW - RNA sequencing

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A cryptic translocation leading to NUP98-PHF23 fusion in AML

Abstract

Keywords

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