Subject(s)
Chromosomes, Human, Pair 9/ultrastructure , Gene Deletion , Genes, p16 , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Translocation, Genetic , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Benzamides/administration & dosage , Child , Chromosomes, Human, Pair 9/genetics , Clonal Evolution , Clone Cells/ultrastructure , Fusion Proteins, bcr-abl/antagonists & inhibitors , Fusion Proteins, bcr-abl/genetics , Humans , Imatinib Mesylate , Karyotype , Male , Neoplastic Stem Cells/ultrastructure , Philadelphia Chromosome , Piperazines/administration & dosage , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Protein Kinase Inhibitors/administration & dosage , Pyrimidines/administration & dosageSubject(s)
Chromosomes, Human, Pair 10/genetics , Chromosomes, Human, Pair 11/genetics , Leukemia, Monocytic, Acute/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Recombinant Fusion Proteins/genetics , Transcription Factors/genetics , Abnormal Karyotype , Base Sequence , Chromosomes, Artificial, Bacterial , Histone-Lysine N-Methyltransferase , Humans , Infant , Male , Molecular Sequence Data , Reverse Transcriptase Polymerase Chain ReactionSubject(s)
Chromosomes, Human, Pair 21/genetics , Chromosomes, Human, Pair 8/genetics , Leukemia, Myeloid/genetics , Translocation, Genetic , Acute Disease , Child , Chromosome Banding , Core Binding Factor Alpha 2 Subunit/genetics , Genetic Variation , Humans , Karyotyping , Leukemia, Myeloid/diagnosis , Leukemia, Myeloid/drug therapy , Male , Oncogene Proteins, Fusion/genetics , RUNX1 Translocation Partner 1 Protein , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
Classical Burkitt lymphoma/leukemia (BL/L) presenting L3 morphology is found in 1% of childhood ALL. Recently, it has been described that secondary abnormalities could influence the prognosis of these patients. However, little information is available on these cytogenetic abnormalities and their prognostic importance in BL/L. Here, we report four new childhood BL/L cases associated with duplication within 1q or 13q, which exhibited a very unfavorable therapeutic response. We performed both classical and molecular cytogenetic analysis by multicolor chromosome banding of the secondary abnormalities involving the long arms of chromosome 1 or 13. These patients were previously treated with BFM-90 protocol. All of them died during or after the initial treatment. Here, for the first time, the exact breakpoints of the derivative chromosomes involved were determined at the cytogenetic level as 1q21 and 13q33 each.
Subject(s)
Burkitt Lymphoma/genetics , Chromosomes, Human, Pair 13/genetics , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 8/genetics , Gene Duplication , Gene Rearrangement , Burkitt Lymphoma/diagnosis , Child , Child, Preschool , Chromosome Breakpoints , Humans , Male , Prognosis , Severity of Illness IndexSubject(s)
Blast Crisis/genetics , Chromosomes, Human/genetics , Leukemia, Myeloid, Acute/genetics , Mutagenesis, Insertional , Translocation, Genetic , Blast Crisis/metabolism , Gene Expression Regulation, Leukemic , Histone-Lysine N-Methyltransferase , Humans , Infant , Leukemia, Myeloid, Acute/metabolism , Male , Myeloid-Lymphoid Leukemia Protein/biosynthesis , Myeloid-Lymphoid Leukemia Protein/genetics , Oncogene Proteins, Fusion/biosynthesis , Oncogene Proteins, Fusion/geneticsABSTRACT
BACKGROUND: Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported infants with such malignancies are reported. RESULTS: An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23. CONCLUSION: Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined.
