Klin Padiatr 2019; 231(03): 164
DOI: 10.1055/s-0039-1687154
Abstracts
Georg Thieme Verlag KG Stuttgart · New York

Stratification and prognosis of IGH-DUX4 positive acute lymphoblastic leukemia in children

J Müller
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
B Fedders
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
G Cario
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
M Schrappe
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
D Schewe
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
A Möricke
1   Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
,
H Lilljebjörn
2   Clinical Genetics, Lund University, Lund, Sweden
,
T Fioretos
2   Clinical Genetics, Lund University, Lund, Sweden
,
M Zimmermann
3   Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany
,
M Stanulla
3   Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
20 May 2019 (online)

Also available at
 

Introduction:

Recently B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with the presence of an IGH-DUX4 rearrangement was identified as a novel genetic subtype. The aim of the study presented here was to describe the prognostic relevance of IGH-DUX4 in patients treated according to the AIEOP-BFM ALL 2009 protocol.

Methods:

Patients diagnosed between 2010 and 2014 and negative for known recurrent genetic abnormalities (B-others) were included. We used extracted DNA of leukemic bone marrow and peripheral blood cells and performed two different Multiplex-Long Range PCR-assays to detect all IGH-DUX4 rearrangements described in the literature so far. Demultiplexed PCR assays and Sanger sequencing were used to verify positive results.

Results:

396 BCP-ALL cases were analyzed. In 29 of the 396 samples the IGH-DUX4 rearrangement was detected and verified (7.3%). Only 1 of the 29 patients with IGH-DUX4 positive ALL was stratified as standard risk patient, 16 as medium risk and 12 as high risk patients. Four of the 29 patients relapsed.

Conclusion:

The IGH-DUX4 Rearrangement constitutes a genetic intermediate risk profile.