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 |
Externí odkaz: |