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

Lookup NU author(s): Professor Anthony MoormanORCiD, Professor Christine Harrison FRCPath FMedSci


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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.

Publication metadata

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

Publication type: Article

Publication status: Published

Journal: Leukemia

Year: 2005

Volume: 19

Issue: 4

Pages: 564-571

ISSN (print): 0887-6924

ISSN (electronic): 1476-5551


DOI: 10.1038/sj.leu.2403629

Notes: Journal Article Research Support, Non-U.S. Gov't England official journal of the Leukemia Society of America, Leukemia Research Fund, U.K


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