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@article{2292759,
author = {Noort, Sanne and Jolieke, van Oosterwijk and Ma, Jing and Garfinkle, Elizabeth A R and Nance, Stephanie and Walsh, Michael and Song, Guangchun and Reinhardt, Dirk and Pigazzi, Martina and Locatelli, Franco and Hasle, Henrik and Abrahamsson, Jonas and Jarošová, Marie and Kelaidi, Charikleia and Polychronopoulou, Sophia and van den HeuvelandEibrink, Marry M and Fornerod, Maarten and Gruber, Tanja A and Zwaan, C Michel},
article_location = {PAVIA},
article_number = {1},
doi = {http://dx.doi.org/10.3324/haematol.2021.280250},
keywords = {pediatric acute myeloid leukemia; rare driving events},
language = {eng},
issn = {0390-6078},
journal = {haematologica},
title = {Analysis of rare driving events in pediatric acute myeloid leukemia},
url = {https://www.haematologica.org/article/view/haematol.2021.280250},
volume = {108},
year = {2023}
}
TY - JOUR
ID - 2292759
AU - Noort, Sanne - Jolieke, van Oosterwijk - Ma, Jing - Garfinkle, Elizabeth A R - Nance, Stephanie - Walsh, Michael - Song, Guangchun - Reinhardt, Dirk - Pigazzi, Martina - Locatelli, Franco - Hasle, Henrik - Abrahamsson, Jonas - Jarošová, Marie - Kelaidi, Charikleia - Polychronopoulou, Sophia - van den Heuvel-Eibrink, Marry M - Fornerod, Maarten - Gruber, Tanja A - Zwaan, C Michel
PY - 2023
TI - Analysis of rare driving events in pediatric acute myeloid leukemia
JF - haematologica
VL - 108
IS - 1
SP - 48-60
EP - 48-60
PB - FERRATA STORTI FOUNDATION
SN - 03906078
KW - pediatric acute myeloid leukemia
KW - rare driving events
UR - https://www.haematologica.org/article/view/haematol.2021.280250
N2 - Elucidating genetic aberrations in pediatric acute myeloid leukemia (AML) provides insight in biology and may impact on risk-group stratification and clinical outcome. This study aimed to detect such aberrations in a selected series of samples without known (cyto)genetic aberration using molecular profiling. A cohort of 161 patients was selected from various study groups: DCOG, BFM, SJCRH, NOPHO and AEIOP. Samples were analyzed using RNA sequencing (n=152), whole exome (n=135) and/or whole genome sequencing (n=100). In 70 of 156 patients (45%), of whom RNA sequencing or whole genome sequencing was available, rearrangements were detected, 22 of which were novel; five involving ERG rearrangements and four NPM1 rearrangements. ERG rearrangements showed self-renewal capacity in vitro, and a distinct gene expression pattern. Gene set enrichment analysis of this cluster showed upregulation of gene sets derived from Ewing sarcoma, which was confirmed comparing gene expression profiles of AML and Ewing sarcoma. Furthermore, NPM1-rearranged cases showed cytoplasmic NPM1 localization and revealed HOXA/B gene overexpression, as described for NPM1 mutated cases. Single-gene mutations as identified in adult AML were rare. Patients had a median of 24 coding mutations (range, 7-159). Novel recurrent mutations were detected in UBTF (n=10), a regulator of RNA transcription. In 75% of patients an aberration with a prognostic impact could be detected. Therefore, we suggest these techniques need to become standard of care in diagnostics.
ER -
NOORT, Sanne, van Oosterwijk JOLIEKE, Jing MA, Elizabeth A R GARFINKLE, Stephanie NANCE, Michael WALSH, Guangchun SONG, Dirk REINHARDT, Martina PIGAZZI, Franco LOCATELLI, Henrik HASLE, Jonas ABRAHAMSSON, Marie JAROŠOVÁ, Charikleia KELAIDI, Sophia POLYCHRONOPOULOU, Marry M VAN DEN HEUVEL-EIBRINK, Maarten FORNEROD, Tanja A GRUBER and C Michel ZWAAN. Analysis of rare driving events in pediatric acute myeloid leukemia. \textit{haematologica}. PAVIA: FERRATA STORTI FOUNDATION, 2023, vol.~108, No~1, p.~48-60. ISSN~0390-6078. Available from: https://dx.doi.org/10.3324/haematol.2021.280250.
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