A new cytogenetic abnormality, t(2;7)(q33;q36), in acute promyelocytic leukemia.
We report the case of a patient with acute promyelocytic leukemia (APL) carrying a novel chromosomal abnormality, t(2;7)(q33;q36). The 54-year-old woman was morphologically diagnosed with APL through bone marrow aspiration. The proportion of blast cells in bone marrow was 78%, including cells displaying Auer rods and faggot cells. Chromosomal analysis revealed the karyotype 46,XX,t(2;7)(q33;q36)[17]/46,XX[3]. The t(15;17) was not detected with conventional cytogenetic analysis. However, reverse transcriptase-polymerase chain reaction revealed the presence of a PML/RARA fusion gene. Cells displaying t(2;7)(q33;q36) disappeared after complete remission was achieved, using induction chemotherapy. Although several additional chromosomal abnormalities have been reported, this t(2;7)(q33;q36) without the classic t(15;17) represents a novel chromosomal abnormality associated with APL.
Owatari
Satsuki
S
Department of Hematology & Immunology, Kagoshima University, Sakuragaoka 8-35-1, Kagoshima 890-8520, Japan. owatari@kagomc2.hosp.go.jp
Uozumi
Kimiharu
K
Haraguchi
Kouichi
K
Ohno
Nobuhito
N
Tokunaga
Masahito
M
Tokunaga
Mayumi
M
Suzuki
Shinsuke
S
Hanada
Shuichi
S
Arima
Naomichi
N
D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*
D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein