Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

The genomic landscape of hypodiploid acute lymphoblastic leukemia

In English

Författare

  • Linda Holmfeldt
  • Lei Wei
  • Ernesto Diaz-Flores
  • Michael Walsh
  • Jinghui Zhang
  • Li Ding
  • Debbie Payne-Turner
  • Michelle Churchman
  • Anna Andersson
  • Shann-Ching Chen
  • Kelly McCastlain
  • Jared Becksfort
  • Jing Ma
  • Gang Wu
  • Samir N. Patel
  • Susan L. Heatley
  • Letha A. Phillips
  • Guangchun Song
  • John Easton
  • Matthew Parker
  • Xiang Chen
  • Michael Rusch
  • Kristy Boggs
  • Bhavin Vadodaria
  • Erin Hedlund
  • Christina Drenberg
  • Sharyn Baker
  • Deqing Pei
  • Cheng Cheng
  • Robert Huether
  • Charles Lu
  • Robert S. Fulton
  • Lucinda L. Fulton
  • Yashodhan Tabib
  • David J. Dooling
  • Kerri Ochoa
  • Mark Minden
  • Ian D. Lewis
  • L. Bik To
  • Paula Marlton
  • Andrew W. Roberts
  • Gordana Raca
  • Wendy Stock
  • Geoffrey Neale
  • Hans G. Drexler
  • Ross A. Dickins
  • David W. Ellison
  • Sheila A. Shurtleff
  • Ching-Hon Pui
  • Raul C. Ribeiro
  • Meenakshi Devidas
  • Andrew J. Carroll
  • Nyla A. Heerema
  • Brent Wood
  • Michael J. Borowitz
  • Julie M. Gastier-Foster
  • Susana C. Raimondi
  • Elaine R. Mardis
  • Richard K. Wilson
  • James R. Downing
  • Stephen P. Hunger
  • Mignon L. Loh
  • Charles G. Mullighan
Visa allt

Summary, in English

The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 hypodiploid ALL cases, including whole-genome and exome sequencing of 40 cases, identified two subtypes that differ in the severity of aneuploidy, transcriptional profiles and submicroscopic genetic alterations. Near-haploid ALL with 24-31 chromosomes harbor alterations targeting receptor tyrosine kinase signaling and Ras signaling (71%) and the lymphoid transcription factor gene IKZF3 (encoding AIOLOS; 13%). In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). Both near-haploid and low-hypodiploid leukemic cells show activation of Ras-signaling and phosphoinositide 3-kinase (PI3K)-signaling pathways and are sensitive to PI3K inhibitors, indicating that these drugs should be explored as a new therapeutic strategy for this aggressive form of leukemia.

Avdelning/ar

Publiceringsår

2013

Språk

Engelska

Sidor

242-252

Publikation/Tidskrift/Serie

Nature Genetics

Volym

45

Issue

3

Dokumenttyp

Artikel i tidskrift

Förlag

Nature Publishing Group

Ämne

  • Medical Genetics

Status

Published

Forskningsgrupp

  • The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy

ISBN/ISSN/Övrigt

  • ISSN: 1546-1718