A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1).
Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoetic stem cell characterized by the presence of the Philadelphia (Ph) chromosome in more than 90% of patients. Cryptic or "masked" BCR/ABL gene rearrangements may be found in cases with a normal karyotype and in cases with the complex karyotype, in which typical t(9;22) is not visible at the microscopic level. Those rearrangements can now be detected by fluorescence in situ hybridization. Here, we report on a novel and complex Ph chromosome-negative CML case with a t(6;9)(p21;q34.1) in which the BCR/ABL fusion gene is located at 6p21.
Todorić-Zivanović
Biljana
B
Military Medical Academy, Bezanijska Kosa, Belgrade, Serbia and Montenegro. btodoric@hotmail.com
Marisavljević
Dragomir
D
Surace
Cecilia
C
Cemerikić
Vesna
V
Marković
Olivera
O
Krtolica
Koviljka
K
Tatomirović
Zeljka
Z
Cikota
Bojana
B
Magić
Zvonko
Z
Rocchi
Mariano
M
D001853:Bone Marrow / Q000378:metabolism; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008297:Male; D008677:Metaphase / Q000235:genetics; D008875:Middle Aged; D014178:Translocation, Genetic / Q000235:genetics*
D016044:Fusion Proteins, bcr-abl