t(7;12)(q36;p13) and t(7;12)(q32;p13) – translocations involving ETV6 in children 18 months of age or younger with myeloid disorders

Autor: W.G. Kroes, Susana C. Raimondi, E. van den Berg, E van Drunen, Karel Hählen, A. van der Does-van den Berg, Daniel Olde Weghuis, Rosalyn Slater, H B Beverloo, E.M.E. Smit, Andrew J. Carroll, E. R. Van Wering
Přispěvatelé: Molecular Genetics, Pediatrics
Rok vydání: 2001
Předmět:
Male
Cancer Research
Pediatrics
Myeloid
Databases
Factual
Trisomy
Translocation
Genetic
HEMATOLOGIC MALIGNANCIES
FUSION
CLINICAL CHARACTERISTICS
hemic and lymphatic diseases
In Situ Hybridization
Fluorescence
Netherlands
Sequence Deletion
ABNORMALITIES
REARRANGEMENTS
Chromosome Breakage
Hematology
Precursor Cell Lymphoblastic Leukemia-Lymphoma
ETIOLOGY
DNA-Binding Proteins
Leukemia
medicine.anatomical_structure
Oncology
Leukemia
Myeloid
Acute Disease
Female
Chromosome breakage
Chromosomes
Human
Pair 7
medicine.medical_specialty
Childhood leukemia
Biology
children
TEL GENE
medicine
Humans
fluorescence in situ hybridization
Retrospective Studies
ACUTE LYMPHOBLASTIC-LEUKEMIA
Anemia
Refractory
with Excess of Blasts
Chromosomes
Human
Pair 12
Proto-Oncogene Proteins c-ets
IDENTIFICATION
Infant
Retrospective cohort study
ETV6
Gene rearrangement
myeloid disorders
medicine.disease
INFANT LEUKEMIA
Introns
Repressor Proteins
Karyotyping
Immunology
Transcription Factors
Zdroj: Leukemia, 15(6), 915-920. Nature Publishing Group
ISSN: 1476-5551
0887-6924
Popis: Our retrospective karyotype review revealed two rare recurrent translocations affecting ETV6 (TEL): t(7;12)(q36;p13) and t(7;12)(q32;p13). Five patients with a t(7;12) were from a group of 125 successfully karyotyped pediatric patients enrolled in consecutive clinical AML trials of the Dutch Childhood Leukemia Study Group over a period of 7 years. During a search of available cytogenetic databases, we found 7q and 12p abnormalities in two additional Dutch patients and in three participants in Pediatric Oncology Group trials. A del(12p) had been initially identified in four of these patients and re-examination of the original karyograms revealed a t(7;12)(q36;p13) in two instances and a probable t(7;12) in the other two. FISH confirmed the presence of a t(7;12)(q36;p13) in the latter. Most (n = 7) also had trisomy 19. The t(7;12)(q36;p13) (n = 9) was more common than the t(7;12)(q32;p13) (n = 1). These subtle translocations were found only in children 18 months of age or younger. A literature search revealed that the t(7;12) with break-points at 7q31-q36 and 12p12-p13 had been reported in six children with myeloid disorders and in two with acute lymphoblastic leukemia; all were 12 months of age or younger. Only two of the 17 for whom survival data were available, were alive after at least 22 months of continuous complete remission. Our findings suggest that ETV6 rearrangements due to a t(7;12) may play an adverse role in myeloid disorders in children 18 months of age or younger. Therefore, children in this age group with myeloid disorders should be screened for both MLL and ETV6 rearrangements.
Databáze: OpenAIRE
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