Masked t(15;17) APL with the insertion of PML-RARalpha fusion gene in 4q21.
Most cases of acute promyelocytic leukemia (APL) are characterized by the reciprocal translocation t(15;17); however, several complex variant translocations have also been reported. Here we report complex cytogenetic abnormalities without t(15;17) assayed by the G-banding method in a 62-year-old woman with the typical morphology and clinical features of APL. Based on spectral karyotyping and FISH analyses, we confirm the insertion of a cryptic chromosomal segment containing the PML/RARalpha fusion gene. The patient achieved complete remission after treatment with all-trans retinoic acid (ATRA) alone. Although the mechanism of this cryptic variant insertion is not known, we conclude that the insertion of PML-RARalpha fusion into 4q21 seems not to alter the effectiveness of treatment with ATRA.
Haraguchi
Kouichi
K
Department of Digestive and Life-style Related Diseases, Human Environmental Sciences, Health Research Studies, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8520, Japan.
Ohno
Nobuhito
N
Tokunaga
Masahito
M
Tokunaga
Mayumi
M
Itoyama
Takahiro
T
Gotoh
Minako
M
Taniwaki
Masafumi
M
Tubouchi
Hirohito
H
D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002894:Chromosomes, Human, Pair 4; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein