Complex chromosomal abnormalities in utero, 5 years before leukaemia
| Autor: | Zoë J, Broadfield, Richard D W, Hain, Christine J, Harrison, G, Reza Jalali, Mark, McKinley, Kyra, Michalová, Hazel M, Robinson, Zuzana, Zemanová, Mary, Martineau |
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| Rok vydání: | 2004 |
| Předmět: |
Chromosomes
Human Pair 12 Oncogene Proteins Fusion Chromosomes Human Pair 21 Twins Monozygotic Precursor Cell Lymphoblastic Leukemia-Lymphoma Translocation Genetic Clone Cells Child Preschool Karyotyping Core Binding Factor Alpha 2 Subunit Diseases in Twins Humans Preleukemia Female In Situ Hybridization Fluorescence |
| Zdroj: | British journal of haematology. 126(3) |
| ISSN: | 0007-1048 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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