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1.
Br J Haematol ; 126(3): 307-12, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15257702

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.


Subject(s)
Diseases in Twins/embryology , Diseases in Twins/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/embryology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Translocation, Genetic , Child, Preschool , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 21 , Clone Cells , Core Binding Factor Alpha 2 Subunit , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Oncogene Proteins, Fusion/genetics , Preleukemia/embryology , Preleukemia/genetics , Twins, Monozygotic
2.
Br J Haematol ; 125(5): 552-9, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15147369

ABSTRACT

This study of children and adults with acute lymphoblastic leukaemia (ALL) is the largest series of patients with hypodiploidy (<46 chromosomes) yet reported. The incidence of 5% was independent of age. Patients were subdivided by the number of chromosomes; near-haploidy (23-29 chromosomes), low hypodiploidy (33-39 chromosomes) and high hypodiploidy (42-45 chromosomes). The near-haploid and low hypodiploid groups were characterized by their chromosomal gains and a doubled hyperdiploid population. Structural abnormalities were more frequent in the low hypodiploid group. Near-haploidy was restricted to children of median age 7 years (range 2-15) whereas low hypodiploidy occurred in an older group of median age 15 years (range 9-54). Patients with 42-45 chromosomes were characterized by complex karyotypes involving chromosomes 7, 9 and 12. The features shared by the few patients with 42-44 chromosomes and the large number with 45 justified their inclusion in the same group. Survival analysis showed a poor outcome for the near-haploid and low hypodiploid groups compared to those with 42-45 chromosomes. Thus cytogenetics, or at least a clear definition of the modal chromosome number, is essential at diagnosis in order to stratify patients with hypodiploidy into the appropriate risk group for treatment.


Subject(s)
Aneuploidy , Chromosomes, Human/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Adolescent , Adult , Child , Disease-Free Survival , Female , Follow-Up Studies , Humans , Karyotyping , Male , Middle Aged , Prognosis , Survival Analysis
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