Complex chromosomal abnormalities in utero, 5 years before leukaemia

Broadfield, Zoe J., Hain, Richard D., Harrison, Christine J., Reza Jalali, G., McKinley, Mark, Michalova, Kyra, Robinson, Hazel M., Zemanova, Zuzana and Martineau, Mary (2004) Complex chromosomal abnormalities in utero, 5 years before leukaemia. British Journal of Haematology, 126 (3), 307-312. (doi:10.1111/j.1365-2141.2004.05036.x).

Abstract

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.

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