NUP98‐NSD1 fusion in association with FLT3‐ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR. Issue 11 (2nd September 2013)

• Record Type: Journal Article
• Authors: Akiki, Susanna; Dyer, Sara A.; Grimwade, David; Ivey, Adam; Abou‐Zeid, Nervana; Borrow, Julian; Jeffries, Sally; Caddick, Judith; Newell, Hayley; Begum, Suriya; Tawana, Kiran; Mason, Joanne; Velangi, Mark; Griffiths, Michael
• Is Part Of: Genes, chromosomes & cancer. Volume 52:Issue 11(2013:Nov.)
• Page Start: 1053
• Page End: 1064
• Publication Date: 2013-09-02
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22100
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The cytogenetically cryptic t(5;11)(q35;p15) leading to the <italic>NUP98‐NSD1</italic> fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis. We used reverse transcription polymerase chain reaction (PCR) to screen retrospectively diagnostic samples from 54 unselected pediatric AML patients and designed a real time quantitative PCR assay to track individual patient response to treatment. Four positive cases (7%) were identified; three arising de novo and one therapy related AML. All had intermediate risk cytogenetic markers and a concurrent <italic>FLT3</italic>‐ITD but lacked <italic>NPM1</italic> and <italic>CEBPA</italic> mutations. The patients had a poor response to therapy and all proceeded to hematopoietic stem cell transplant. These data lend support to the adoption of screening for <italic>NUP98‐NSD1</italic> in pediatric AML without otherwise favorable genetic markers. The role of quantitative PCR is also highlighted as a potential tool for managing <italic>NUP98‐NSD1</italic> positive patients post‐treatment. © 2013 Wiley Periodicals, Inc.</p> </abstract>