A cryptic three-way translocation t(10;19;11)(p12.31;q13.31;q23.3) with a derivative Y-chromosome in an infant with acute myeloblastic leukemia (M5b).
Acute myeloid leukemia (AML) is a heterogeneous disease characterized by the malignant transformation of hematopoietic precursors to a pathogenic cell clone. Chromosomal band 11q23 harboring MLL (=mixed lineage leukemia) gene is known to be involved in rearrangements with variety of genes as activating partners of MLL in different AML subtypes. Overall, an unfavorable prognosis is associated with MLL abnormalities. Here we investigated an 11-month-old male presenting with hyperleukocytosis being diagnosed with AML subtype FAB-M5b. In banding cytogenetics a der(19)t(19;?)(q13.3;?) and del(Y)(q11.23) were found as sole aberrations. Molecular cytogenetics revealed that the MLL gene was disrupted and even partially lost due to a t(10;19;11)(p12.31;q13.31;q23.3), an MLL/MLLT10 fusion appeared, and the der(Y) was an asymmetric inverted duplication with breakpoints in Yp11.2 and Yq11.23. The patient got hematopoietic stem cell transplantation from his haploidentical mother. Still three months afterwards 15% of blasts were detected in bone marrow and later the patient was lost during follow-up. The present case highlights the necessity to exclude MLL rearrangements, even when there seems to be no actual hint from banding cytogenetics.
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
Moneeb A K
MA
Othman
University of Belgrade Faculty of Medicine, Dr Subotica Str. 8, 11000 Belgrade, Serbia; Mother and Child Health Care Institution of Serbia "Dr. Vukan Cupic", R. Dakica Street 6-8, 11070 Belgrade, Serbia.
Dragana
D
Vujić
Mother and Child Health Care Institution of Serbia "Dr. Vukan Cupic", R. Dakica Street 6-8, 11070 Belgrade, Serbia.
Zeljko
Z
Zecević
Mother and Child Health Care Institution of Serbia "Dr. Vukan Cupic", R. Dakica Street 6-8, 11070 Belgrade, Serbia.
Marina
M
Đurišić
Mother and Child Health Care Institution of Serbia "Dr. Vukan Cupic", R. Dakica Street 6-8, 11070 Belgrade, Serbia.
Bojana
B
Slavković
ZytoVision GmbH, Bremerhaven, Germany.
Britta
B
Meyer
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany. Electronic address: Thomas.Liehr@med.uni-jena.de.
Thomas
T
Liehr
D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D002888:Chromosomes, Human, Pair 19; D041322:Chromosomes, Human, Y; D003582:Cytogenetics / Q000379:methods; D015321:Gene Rearrangement; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic
Acute myeloid leukemia (AML); Complex chromosomal rearrangement; Cryptic deletion; MLL-gene; Subtype M5b; Y-chromosome