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@article{1430300,
author = {Fontana, M.C. and Marconi, G. and Feenstra, J.D.M. and Fonzi, E. and Papayannidis, C. and di Rora, A.G.L. and Padella, A. and Solli, V. and Franchini, E. and Ottaviani, E. and Ferrari, A. and Baldazzi, C. and Testoni, N. and Iacobucci, I. and Soverini, S. and Haferlach, T. and Guadagnuolo, V. and Semerád, Lukáš and Doubek, Michael and Steurer, M. and Ráčil, Zdeněk and Paolini, S. and Manfrini, M. and Cavo, M. and Simonetti, G. and Kralovics, R. and Martinelli, G.},
article_location = {London},
article_number = {7},
doi = {http://dx.doi.org/10.1038/s41375-018-0035-y},
keywords = {genomic instability; cancer genomes; prostate-cancer; tp53 mutations; classification; prognosis; aml; recommendations; rearrangements; chromosomes},
language = {eng},
issn = {0887-6924},
journal = {Leukemia},
title = {Chromothripsis in acute myeloid leukemia: biological features and impact on survival},
volume = {32},
year = {2018}
}
TY - JOUR
ID - 1430300
AU - Fontana, M.C. - Marconi, G. - Feenstra, J.D.M. - Fonzi, E. - Papayannidis, C. - di Rora, A.G.L. - Padella, A. - Solli, V. - Franchini, E. - Ottaviani, E. - Ferrari, A. - Baldazzi, C. - Testoni, N. - Iacobucci, I. - Soverini, S. - Haferlach, T. - Guadagnuolo, V. - Semerád, Lukáš - Doubek, Michael - Steurer, M. - Ráčil, Zdeněk - Paolini, S. - Manfrini, M. - Cavo, M. - Simonetti, G. - Kralovics, R. - Martinelli, G.
PY - 2018
TI - Chromothripsis in acute myeloid leukemia: biological features and impact on survival
JF - Leukemia
VL - 32
IS - 7
SP - 1609-1620
EP - 1609-1620
PB - Nature Publishing Group
SN - 08876924
KW - genomic instability
KW - cancer genomes
KW - prostate-cancer
KW - tp53 mutations
KW - classification
KW - prognosis
KW - aml
KW - recommendations
KW - rearrangements
KW - chromosomes
N2 - Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study defines incidence of chromothripsis in 395 newly diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix (R)) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients. Patients harboring chromothripsis had higher age (p = 0.002), ELN high risk (HR) (p < 0.001), lower white blood cell (WBC) count (p = 0.040), TP53 loss, and/or mutations (p < 0.001) while FLT3 (p = 0.025), and NPM1 (p = 0.032) mutations were mutually exclusive with chromothripsis. Chromothripsis-positive patients showed a worse overall survival (OS) (p < 0.001) compared with HR patients (p = 0.011) and a poor prognosis in a COX-HR optimal regression model. Chromothripsis presented the hallmarks of chromosome instability [i.e., TP53 alteration, 5q deletion, higher mean of copy number alteration (CNA), complex karyotype, alterations in DNA repair, and cell cycle] and focal deletions on chromosomes 4, 7, 12, 16, and 17. CBA. FISH showed that chromothripsis is associated with marker, derivative, and ring chromosomes. In conclusion, chromothripsis frequently occurs in AML (6.6%) and influences patient prognosis and disease biology.
ER -
FONTANA, M.C., G. MARCONI, J.D.M. FEENSTRA, E. FONZI, C. PAPAYANNIDIS, A.G.L. DI RORA, A. PADELLA, V. SOLLI, E. FRANCHINI, E. OTTAVIANI, A. FERRARI, C. BALDAZZI, N. TESTONI, I. IACOBUCCI, S. SOVERINI, T. HAFERLACH, V. GUADAGNUOLO, Lukáš SEMERÁD, Michael DOUBEK, M. STEURER, Zdeněk RÁČIL, S. PAOLINI, M. MANFRINI, M. CAVO, G. SIMONETTI, R. KRALOVICS a G. MARTINELLI. Chromothripsis in acute myeloid leukemia: biological features and impact on survival. Online. \textit{Leukemia}. London: Nature Publishing Group, 2018, roč.~32, č.~7, s.~1609-1620. ISSN~0887-6924. Dostupné z: https://dx.doi.org/10.1038/s41375-018-0035-y. [citováno 2024-04-23]
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