Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high-risk myelodysplastic syndrome

To explore the genetic and clinical features of a rare t(1;12)(q21;p13) in a patient with myelodysplastic syndrome (MDS). A 53-year-old male was diagnosed as high-risk MDS, and died in a short period. A complete cytogenetic analysis of bone marrow by conventional G-banding karyotyping was performed at the time of initial evaluation. On the basis of chromosome karyotype, interphase and metaphase fluorescence in-situ hybridization (FISH) were carried out to further confirm the abnormal karyotypes. Reverse-transcription polymerase chain reaction (RT-PCR) was performed to determine ETV6/ARNT fusion gene status. G-banding revealed karyotype 47, XY, +8, der(12) t(1;12)(q21;p13). FISH with the centromere 8 probe verified the trisomy 8, and the ETV 6 break-apart probe suggested heterozygous loss of ETV6 allele located in short arm of chromosome 12. Subsequently, the painting probe of whole chromosome 12 further confirmed the part break of short arm of chromosome 12, and the 1q21/1p36 probe yielded three signals of 1q21 and two signals of 1p36. The results of FISH were in accordance with the karyotype completely. No ETV6/ARNT fusion gene was detected by PCR. T(1;12)(q21;p13) is a rare abnormal karyotype, and the limited reports cannot supply definite clinical significance. Rapid deterioration of our case suggests this translocation of chromosome might have a poor effect on the survival of MDS.