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Derivative chromosome 9 deletions are a significant feature of childhood Philadelphia chromosome positive acute lymphoblastic leukaemia.

Abstract：

:Deletions from the derivative chromosome 9, der(9), of the translocation, t(9;22)(q34;q11), at the site of the ABL/BCR fusion gene, have been demonstrated by fluorescence in situ hybridisation (FISH), in both Philadelphia chromosome (Ph)-positive chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL). In CML they occur in 10-15% of cases and appear to indicate a worse prognosis, whereas in ALL, the situation is unclear. This study presents the findings of dual fusion FISH used to detect such deletions in a series of 27 BCR/ ABL-positive childhood ALL patients. Metaphase FISH was essential for the accurate interpretation of interphase FISH signal patterns. Three cases (11%) had a single fusion signal, resulting from deletions of the der(9). Three other patients with variant translocations and one with an insertion, also had a single fusion, but with no evidence of deletions. Gain of a fusion in approximately one-third of patients indicated a second Ph, which appears to be a diagnostic marker of Ph-positive ALL. This study shows that the incidence of deletions from the der(9) in childhood ALL is at least as high as that reported for CML.

journal_name

Leukemia

journal_title

Leukemia

authors

Robinson HM,Martineau M,Harris RL,Barber KE,Jalali GR,Moorman AV,Strefford JC,Broadfield ZJ,Cheung KL,Harrison CJ

doi

10.1038/sj.leu.2403629

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

564-71

issue

4

eissn

0887-6924

issn

1476-5551

pii

2403629

journal_volume

19

pub_type

杂志文章

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