t(X;17) as the sole karyotypic anomaly in a case of M(3r) subtype of acute promyelocytic leukemia without RARalpha rearrangement.
We describe here a unique chromosomal abnormality found in a patient with M(3r) subtype of APL. Neither t(15;17) nor rearrangement of RARalpha was detected by routine R-banded chromosome as well as fluorescence in situ hybridization (FISH) analysis using PML/RARalpha dual-color dual-fusion translocation probe and RARalpha dual-color break apart rearrangement probe. Instead of the typical rearrangement between chromosomes 15 and 17, all cells analyzed had a translocation between X and 17 as the sole karyotypic anomaly. The translocation was conformed by whole chromosome painting (WCP) with painting probes of chromosomes X and 17. To our knowledge, this is the first documented APL with a novel translocation involving chromosomes X and 17 without RARalpha gene rearrangement.
Wang
Huan-Ping
HP
Xu
Huan
H
Chen
Zhi-Mei
ZM
Tong
Xiang-Min
XM
Qian
Wen-Bin
WB
Jin
Jie
J
D002886:Chromosomes, Human, Pair 17; D041321:Chromosomes, Human, X; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000145:classification / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014178:Translocation, Genetic
C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha