TY - JOUR
T1 - Acute promyelocytic leukemia with apparently normal karyotype
T2 - Molecular findings and response to all-trans retinoic acid
AU - Kohno, A.
AU - Tsuzuki, S.
AU - Kasai, M.
AU - Miyamura, K.
AU - Emi, N.
AU - Tanimoto, M.
AU - Saito, H.
N1 - Funding Information:
We are grateful to Tatsumi Ohashi and Kyoko Kato from the Center for Molecular Biology and Cytogenetics, SRL,I nc. for their excellent technical support. This work was supported in part by Grants-in-Aid for Scientific Research from the Ministry of Education, Science and Culture of Japan, and Grants-in-Aid for Gene Therapy from the Ministry of Health and Welfare of Japan.
PY - 2001
Y1 - 2001
N2 - Acute promyelocytic leukemia (APL) is specifically associated with a reciprocal translocation, t(15; 17)(q22; q21), leading to the formation of a fusion of the retinoic acid receptor-α (RARA) gene and the promyelocytic leukemia (PML) gene. However, there are several reports describing APL cases lacking the t(15; 17). Many such cases are those bearing variant translocations involving chromosomes 15 or 17, and those with no chromosomal aberrations have rarely been reported. We have studied a patient with APL showing an apparently normal karyotype which was confirmed by spectral karyotyping (SKY). A submicroscopic PML-RARA fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH). All-trans retinoic acid (ATRA) was effective as the initial therapy for remission induction and as the reinduction therapy after a relapse. The present study shows the key role of the fusion of PML-RARA in the responsiveness to ATRA as well as in the leukemogenesis of APL.
AB - Acute promyelocytic leukemia (APL) is specifically associated with a reciprocal translocation, t(15; 17)(q22; q21), leading to the formation of a fusion of the retinoic acid receptor-α (RARA) gene and the promyelocytic leukemia (PML) gene. However, there are several reports describing APL cases lacking the t(15; 17). Many such cases are those bearing variant translocations involving chromosomes 15 or 17, and those with no chromosomal aberrations have rarely been reported. We have studied a patient with APL showing an apparently normal karyotype which was confirmed by spectral karyotyping (SKY). A submicroscopic PML-RARA fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH). All-trans retinoic acid (ATRA) was effective as the initial therapy for remission induction and as the reinduction therapy after a relapse. The present study shows the key role of the fusion of PML-RARA in the responsiveness to ATRA as well as in the leukemogenesis of APL.
KW - Acute promyelocytic leukemia
KW - All-trans retinoic add
KW - Normal karyotype
KW - PML-RARA
KW - Submicroscopic translocation
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U2 - 10.3109/10428190109097687
DO - 10.3109/10428190109097687
M3 - Article
C2 - 11699203
AN - SCOPUS:0034925188
VL - 42
SP - 151
EP - 161
JO - Leukemia and Lymphoma
JF - Leukemia and Lymphoma
SN - 1042-8194
IS - 1-2
ER -
