1. An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement
- Author
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Ester Mejstrikova, Halka Lhotska, Libuse Lizcova, Lucie Sramkova, Ivan Raška, Jan Zuna, Zuzana Zemanova, Eva Malinova, Jana Rabasova, Jan Stary, Lenka Hovorkova, and Kyra Michalova
- Subjects
medicine.medical_specialty ,High-hyperdiploid childhood ALL ,Clone (cell biology) ,Chromosomal translocation ,Case Report ,Disease ,Biology ,CGH–SNP array ,Biochemistry ,FISH ,hemic and lymphatic diseases ,medicine ,Genetics ,Genetics(clinical) ,Molecular Biology ,BCR/ABL1 fusion ,Genetics (clinical) ,Biochemistry, medical ,ABL ,Biochemistry (medical) ,Cytogenetics ,breakpoint cluster region ,Human genetics ,Cancer research ,Molecular Medicine ,Hyperdiploidy ,Ph-negative childhood ALL - Abstract
Background Both high hyperdiploidy (HeH) and the translocation t(9;22)(q34;q11) are recurrent abnormalities in childhood B-cell acute lymphoblastic leukemia (ALL) and both are used in current classification to define different genetic and prognostic subtypes of the disease. The coexistence of these two primary genetic aberrations within the same clone is very rare in children with ALL. Here we report a new case of a 17-year-old girl with newly diagnosed ALL and uncommon cytogenetic and clinical finding combining high hyperdiploidy and a cryptic BCR/ABL1 fusion and an inherited Charcot-Marie-Tooth neuropathy detected during the induction treatment. Results High hyperdiploid karyotype 51,XX,+X,+4,+14,+17,+21 without apparent structural aberrations was detected by conventional cytogenetic analysis and multicolor FISH. A cryptic BCR/ABL1 fusion, which was caused by the insertion of part of the ABL1 gene into the 22q11 region, was proved in HeH clone by FISH, RT-PCR and CGH-SNP array. In addition, an abnormal FISH pattern previously described as the deletion of the 3′BCR region in some BCR/ABL1 positive cases was not proved in our patient. Conclusion A novel case of extremely rare childhood ALL, characterized by HeH and a cryptic BCR/ABL1 fusion, is presented and to the best of our knowledge described for the first time. The insertion of ABL1 into the BCR region in malignant cells is supposed. Clearly, further studies are needed to determine the genetic consequences and prognostic implications of these unusual cases.
- Published
- 2014