| Autor: |
G. Reza Jalali, Zoë J. Broadfield, Hazel M. Robinson, M Martineau, Mark McKinley, Zuzana Zemanova, Kyra Michalova, Christine J. Harrison, Richard Hain |
| Rok vydání: |
2004 |
| Předmět: |
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| Zdroj: |
British Journal of Haematology. 126:307-312 |
| 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 |
| Externí odkaz: |
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