JL Lühmann

Medizinische Hochschule Hannover

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Doris Steinemann

Medizinische Hochschule Hannover

Nils von Neuhoff

Essen University Hospital

Martin Schrappe

Deutsche Forschungsgemeinschaft

Markus Schneider

University of Applied Sciences Landshut

Julia Suttorp

University of Duisburg-Essen

Gunnar Cario

University Hospital Schleswig-Holstein

Brigitte Schlegelberger

Medizinische Hochschule Hannover

Dirk Reinhardt

Essen University Hospital

J. McA. Kater

Medizinische Hochschule Hannover

Martin Stanulla

Medizinische Hochschule Hannover

Cooperative Institutions

Medizinische Hochschule Hannover

Kiel University

University Hospital Schleswig-Holstein

University of Lübeck

Essen University Hospital

University of Duisburg-Essen

Deutschen Konsortium für Translationale Krebsforschung

Heidelberg University

Zentrum für Kinderheilkunde

Society of Paediatric Oncology and Haematology

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IKZF1plus under investigation: Optical Genome Mapping to detect additional alterations

Klinische Pädiatrie (2022)

JL Lühmann J. McA. Kater Lena Wendeburg Anja Möricke Gunnar Cario

Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. Leukemic cells are characterized by structural and numeric genomic aberrations, which strongly correlate with prognosis and clinical outcome. A proportion of ALLs cannot be assigned to a distinct subgroup and are classified as B-other. Within this group the IKZF1plus-profile was described as a copy-number based and MRD-dependent stratification profile with very poor prognosis. It is unknown so far, if this profile presents as a surrogate for other unidentified underlying variants. Using optical genome mapping (OGM), a method to detect all types structural variants, we retrospectively investigated IKZF1del/plus-ALL samples and searched for genomic aberrations driving or contributing to the poor prognosis for these patients. Applying OGM we detected several recurrent stratification markers associated with poor prognosis such as a ETV6::ABL1 fusion (ins(12;9)), a PAX5::JAK2 fusion (inv(9)), a EBF1:PDGFRB fusion (t(5;5)). Additionally, we identified a novel NPAT::JAK2 fusion resulting from a t(9;11). Our preliminary data show that IKZF1del/plus-ALL carry additional markers that might be the drivers of the disease.

PDGFRB

10.1055/s-0042-1748687

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The extended potential of optical genome mapping (OGM) in pediatric AML compared to classical cytogenetics

Klinische Pädiatrie (2022)

Julia Suttorp JL Lühmann Doris Steinemann Dirk Reinhardt Nils von Neuhoff

Pediatric AML is characterized by numerous genetic aberrations (GA) impacting its classification for risk of treatment failure. GA are described by classical procedures (karyotyping, FISH, RNA-fusion transcripts) which harbor limitations. OGM is an emerging chip-based DNA technique with high resolution (~500 bp, for details see: https://bionanogenomics.com/products/saphyr/).

10.1055/s-0042-1748733

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