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Dic(9;20)(p13;q11)-positive B-cell precursor acute lymphoblastic leukemia: A genetic and clinical entity?

K Nebral, M Koenig, D Krehan, A Teigler-Schlegel, J Harbott, F Niggli, OA Haas, R Panzer-Gruemayer, A Attarbaschi, S Strehl · Klinische Pädiatrie · 2010 · Heft 05

Dokument
1138727
CareLit-ID
Jahr
2010
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
K Nebral, M Koenig, D Krehan, A Teigler-Schlegel, J Harbott, F Niggli, OA Haas, R Panzer-Gruemayer, A Attarbaschi, S Strehl
Ausgabe
Heft 05 / 2010
Seiten
–
Erschienen: 2010-05-07 00:00:00
ISSN
0300-8630

Zusammenfassung

Cytogenetically defined dic(9;20)-positive leukemia accounts for ˜2% of pediatric BCP-ALL and is considered as unique genetic and clinical entity. However, at the molecular level the breakpoints in both chromosomes are heterogeneous, and thus, the formation of a dic(9;20) does not result in the expression of a consistent fusion gene. Hence, a dic(9;20) is generally associated with loss of genetic material, primarily hetero- or even homozygous deletion of CDKN2A/B (9p21), disruption or deletion of PAX5 (9p13) and ASXL1 (20q11), but rarely with a PAX5-C20orf112 fusion gene. Analysis of 21 BCP-ALL patients with a d…

Schlagworte

Chromosomes Klinische Pädiatrie