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Complex chromosomal abnormalities in utero, 5 years before leukaemia

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


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Prenatal acquisition of leukaemia-associated gene rearrangements is a well-established phenomenon. This is the first report of a complex cytogenetic clone, in association with an ETV6/AML1 fusion, developing in utero. Identical twin girls, aged 4 years, developed ETV6/AML1-positive acute lymphoblastic leukaemia (ALL) within 3 months of one another. Both demonstrated an identical four way, variant t(12;21). There was gain of an AML1 signal in twin 1 and loss of an ETV6 one in twin 2 at interphase. This unique case study demonstrates that ETV6/AML1 fusion and the associated complex chromosomal rearrangements occurred in utero. Clonal expansion of the abnormal cell in one twin was followed by metastasis to the other. There was a prolonged preleukaemic phase, which lasted well into childhood. The short time between the two diagnoses of ALL suggests a common precipitating event. The significance of the different secondary markers remains unclear.

Publication metadata

Author(s): Broadfield ZJ, Hain RD, Harrison CJ, Jalali GR, McKinley M, Michalova K, Robinson HM, Zemanova Z, Martineau M

Publication type: Article

Publication status: Published

Journal: British Journal of Haematology

Year: 2004

Volume: 126

Issue: 3

Pages: 307-12

ISSN (print): 0007-1048

ISSN (electronic): 1365-2141

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1111/j.1365-2141.2004.05036.x

Notes: Journal Article Research Support, Non-U.S. Gov't England


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