A der(14)t(1;14)(q12;p11) in chronic myelomonocytic leukemia

• Published in: Cancer genetics and cytogenetics 2005-07, Vol.160 (1), p.89-93
• Main Authors: Djordjevic, Vesna, Jankovic, Gradimir, Suvajdzic, Nada, Marisavljevic, Dragomir, Pantic, Milena, Bogdanovic, Andrija, Šefer, Dijana, Dencic, Marija, Colovic, Milica
• Format: Article
• Language: English
• Subjects: Adult; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 14; Humans; Leukemia, Myelomonocytic, Chronic - genetics; Male; Translocation, Genetic; Trisomy
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2004.12.009

Duplication of the long arm of chromosome 1 (1q) is widely reported in human neoplasia, including the myelodysplastic syndromes (MDS). So far, it has not been described as a single aberration in the chronic myelomonocytic leukemia (CMML), a subtype of MDS. Rather, trisomy 1q was always a part of complex chromosome changes affecting the subtypes of MDS other than CMML. We report on a patient with CMML with an unbalanced translocation of the entire 1q onto the short arm of chromosome 14 as a sole cytogenetic abnormality. Fluorescence in situ hybridization (FISH) analysis with an α-satellite probe for the paracentric region of the long arm of chromosome 1 confirmed the presence of trisomy 1q in a derivative chromosome, der(14)t(1;14)(q12;p11). The discrepant results between the metaphase cytogenetics (100% abnormal) and interphase cytogenetic (71% nuclei with 3 signals) suggest that trisomy 1q, even in the absence of additional cytogenetic changes, has a sufficient leukemogenic potential to confer a proliferative advantage on hematopoietic cells committed to monocyte stemline both in vitro and in vivo. The literature data on partial and complete trisomy 1q in CMML is reviewed.