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Complex chromosomal abnormalities in utero , 5 years before leukaemia *
Author(s) -
Broadfield Zoë J.,
Hain Richard D. W.,
Harrison Christine J.,
Reza Jalali G.,
McKinley Mark,
Michalová Kyra,
Robinson Hazel M.,
Zemanová Zuzana,
Martineau Mary
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05036.x
Subject(s) - in utero , etv6 , clone (java method) , karyotype , fusion gene , chromosomal translocation , biology , gene rearrangement , immunology , genetics , gene , pregnancy , chromosome , fetus
Summary 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.