CareLit Fachartikel

Identification of first and second genomic lesions in ETV6-RUNX1 positive childhood acute lymphoblastic leukaemia (ALL)

M Krumbholz, U Jacobs, S Semper, H von Goessel, T Langer, M Metzler · Klinische Pädiatrie · 2009 · Heft 05

Dokument
1012207
CareLit-ID
Jahr
2009
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
M Krumbholz, U Jacobs, S Semper, H von Goessel, T Langer, M Metzler
Ausgabe
Heft 05 / 2009
Seiten
–
Erschienen: 2009-05-11 00:00:00
ISSN
0300-8630
DOI
10.1055/s-0029-1222654

Zusammenfassung

Background: The ETV6-RUNX1 translocation, resulting from t(12;21)(p13;q22), is the most common chromosomal translocation in childhood ALL. The genomic ETV6-RUNX1 fusion site is unique to individual patients and represents an ideal molecular marker for absolute quantification. This chromosomal translocation (“first-hit“) alone is insufficient to induce leukemia, additional secondary genetic events (“second-hit“) are necessary. Patients and method: ETV6-RUNX1 fusion sites were amplified from bone marrow DNA of 65 pediatric ALL patients using a two-round multiplex long-range PCR (MLR-PCR). Secondary genetic aberrat…

Schlagworte

Etv6-Runx1 Fusion Secondary Translocation Patients Genetic Genomic Chromosomal Quantification Sites Amplified Using Klinische Pädiatrie