| KLAMPFL, T., J. MILOSEVIC, A. PUDA, A. SCHONEGGER, K. BAGIENSKI, T. BERG, A. HARUTYUNYAN, B. GISSLINGER, E. RUMI, L. MALCOVATI, D. PIETRA, Ch. ELENA, M G DELLA PORTA, L. PIERI, P. GUGLIELMELLI, Ch. BOCK, Michael DOUBEK, Dana DVOŘÁKOVÁ, N. SUVAJDZIC, D. TOMIN, N. TOSIC, Zdeněk RÁČIL, M. STEURER, S. PAVLOVIC, A. VANNUCCHI, M. CAZZOLA, H. GISSLINGER a R. KRALOVICS. Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2. PLOS ONE. Public Library of Science, 2013, roč. 8, č. 10, s. "nestránkováno", 10 s. ISSN 1932-6203. doi:10.1371/journal.pone.0077819. |
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@article{1138599,
author = {Klampfl, T. and Milosevic, J. and Puda, A. and Schonegger, A. and Bagienski, K. and Berg, T. and Harutyunyan, A. and Gisslinger, B. and Rumi, E. and Malcovati, L. and Pietra, D. and Elena, Ch. and Della Porta, M G and Pieri, L. and Guglielmelli, P. and Bock, Ch. and Doubek, Michael and Dvořáková, Dana and Suvajdzic, N. and Tomin, D. and Tosic, N. and Ráčil, Zdeněk and Steurer, M. and Pavlovic, S. and Vannucchi, A. and Cazzola, M. and Gisslinger, H. and Kralovics, R.},
article_number = {10},
doi = {http://dx.doi.org/10.1371/journal.pone.0077819},
keywords = {CBL; DDB1; LMO2; myeloid malignancies target},
language = {eng},
issn = {1932-6203},
journal = {PLOS ONE},
title = {Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2},
url = {http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0077819},
volume = {8},
year = {2013}
}
TY - JOUR
ID - 1138599
AU - Klampfl, T. - Milosevic, J. - Puda, A. - Schonegger, A. - Bagienski, K. - Berg, T. - Harutyunyan, A. - Gisslinger, B. - Rumi, E. - Malcovati, L. - Pietra, D. - Elena, Ch. - Della Porta, M G - Pieri, L. - Guglielmelli, P. - Bock, Ch. - Doubek, Michael - Dvořáková, Dana - Suvajdzic, N. - Tomin, D. - Tosic, N. - Ráčil, Zdeněk - Steurer, M. - Pavlovic, S. - Vannucchi, A. - Cazzola, M. - Gisslinger, H. - Kralovics, R.
PY - 2013
TI - Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2
JF - PLOS ONE
VL - 8
IS - 10
SP - "nestránkováno"
EP - "nestránkováno"
PB - Public Library of Science
SN - 19326203
KW - CBL
KW - DDB1
KW - LMO2
KW - myeloid malignancies target
UR - http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0077819
L2 - http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0077819
N2 - Exome sequencing of primary tumors identifies complex somatic mutation patterns. Assignment of relevance of individual somatic mutations is difficult and poses the next challenge for interpretation of next generation sequencing data. Here we present an approach how exome sequencing in combination with SNP microarray data may identify targets of chromosomal aberrations in myeloid malignancies. The rationale of this approach is that hotspots of chromosomal aberrations might also harbor point mutations in the target genes of deletions, gains or uniparental disomies (UPDs). Chromosome 11 is a frequent target of lesions in myeloid malignancies. Therefore, we studied chromosome 11 in a total of 813 samples from 773 individual patients with different myeloid malignancies by SNP microarrays and complemented the data with exome sequencing in selected cases exhibiting chromosome 11 defects. We found gains, losses and UPDs of chromosome 11 in 52 of the 813 samples (6.4%). Chromosome 11q UPDs frequently associated with mutations of CBL. In one patient the 11qUPD amplified somatic mutations in both CBL and the DNA repair gene DDB1. A duplication within MLL exon 3 was detected in another patient with 11qUPD. We identified several common deleted regions (CDR) on chromosome 11. One of the CDRs associated with de novo acute myeloid leukemia (P=0.013). One patient with a deletion at the LMO2 locus harbored an additional point mutation on the other allele indicating that LMO2 might be a tumor suppressor frequently targeted by 11p deletions. Our chromosome-centered analysis indicates that chromosome 11 contains a number of tumor suppressor genes and that the role of this chromosome in myeloid malignancies is more complex than previously recognized.
ER -
KLAMPFL, T., J. MILOSEVIC, A. PUDA, A. SCHONEGGER, K. BAGIENSKI, T. BERG, A. HARUTYUNYAN, B. GISSLINGER, E. RUMI, L. MALCOVATI, D. PIETRA, Ch. ELENA, M G DELLA PORTA, L. PIERI, P. GUGLIELMELLI, Ch. BOCK, Michael DOUBEK, Dana DVOŘÁKOVÁ, N. SUVAJDZIC, D. TOMIN, N. TOSIC, Zdeněk RÁČIL, M. STEURER, S. PAVLOVIC, A. VANNUCCHI, M. CAZZOLA, H. GISSLINGER a R. KRALOVICS. Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2. \textit{PLOS ONE}. Public Library of Science, 2013, roč.~8, č.~10, s.~''nestránkováno'', 10 s. ISSN~1932-6203. doi:10.1371/journal.pone.0077819.
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