The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.


  • Anna Andersson
  • Jing Ma
  • Jianmin Wang
  • Xiang Chen
  • Amanda Larson Gedman
  • Jinjun Dang
  • Joy Nakitandwe
  • Linda Holmfeldt
  • Matthew Parker
  • John Easton
  • Robert Huether
  • Richard Kriwacki
  • Michael Rusch
  • Gang Wu
  • Yongjin Li
  • Heather Mulder
  • Susana Raimondi
  • Stanley Pounds
  • Guolian Kang
  • Lei Shi
  • Jared Becksfort
  • Pankaj Gupta
  • Debbie Payne-Turner
  • Bhavin Vadodaria
  • Kristy Boggs
  • Donald Yergeau
  • Jayanthi Manne
  • Guangchun Song
  • Michael Edmonson
  • Panduka Nagahawatte
  • Lei Wei
  • Cheng Cheng
  • Deqing Pei
  • Rosemary Sutton
  • Nicola C Venn
  • Albert Chetcuti
  • Amanda Rush
  • Daniel Catchpoole
  • Jesper Heldrup
  • Thoas Fioretos
  • Charles Lu
  • Li Ding
  • Ching-Hon Pui
  • Sheila Shurtleff
  • Charles G Mullighan
  • Elaine R Mardis
  • Richard K Wilson
  • Tanja A Gruber
  • Jinghui Zhang
  • James R Downing

Summary, in English

Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older children (MLL-R cases) with leukemia. Our data show that infant MLL-R ALL has one of the lowest frequencies of somatic mutations of any sequenced cancer, with the predominant leukemic clone carrying a mean of 1.3 non-silent mutations. Despite this paucity of mutations, we detected activating mutations in kinase-PI3K-RAS signaling pathway components in 47% of cases. Surprisingly, these mutations were often subclonal and were frequently lost at relapse. In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL.


  • The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy
  • Division of Clinical Genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Paediatrics (Lund)

Publishing year







Nature Genetics





Document type

Journal article


Nature Publishing Group


  • Medical Genetics



Research group

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


  • ISSN: 1546-1718