title: A der(14)t(1;14)(q12;p11) in chronic myelomonocytic leukemia.
abstract: 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 alpha-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.
authors.affiliation: Institute of Hematology, Clinical Center of Serbia, Koste Todorovića 2, 11000 Belgrade, Serbia and Montenegro. djmilan@eunet.yu
authors.forename: Vesna
authors.initials: V
authors.lastname: Djordjevic
authors.forename: Gradimir
authors.initials: G
authors.lastname: Jankovic
authors.forename: Nada
authors.initials: N
authors.lastname: Suvajdzic
authors.forename: Dragomir
authors.initials: D
authors.lastname: Marisavljevic
authors.forename: Milena
authors.initials: M
authors.lastname: Pantic
authors.forename: Andrija
authors.initials: A
authors.lastname: Bogdanovic
authors.forename: Dijana
authors.initials: D
authors.lastname: Sefer
authors.forename: Marija
authors.initials: M
authors.lastname: Dencic
authors.forename: Milica
authors.initials: M
authors.lastname: Colovic
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy