Translocation t(1;22) mimicking t(1;19) in a child with acute lymphoblastic leukemia as revealed by chromosome painting

Abstract

The karyotype of a boy with acute lymphoblastic leukemia (ALL) presenting with numerical and structural chromosome aberrations as determined by Giemsa-banding was further investigated using chromosome painting (CP). A translocation t(11;18)(q23;q21) was verified by this approach, and gain of chromosome 21 material due to a structural rearrangement was detected. Moreover, an unbalanced translocation of the long arm of chromosome 1, resembling the well known translocation t(1;19), was demonstrated to involve chromosome 22 instead of chromosome 19. Immunophenotyping of the leukemic blasts led to the diagnosis common ALL (CD19+, CD10+, clg-). Our case indicates that in ALL a translocation t(1;19) may be mimicked by other chromosomal rearrangements, and that CP may efficiently complement conventional cytogenetics in the exact characterization of the involved chromosomes.