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KMID : 0366220070420030296
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Korean Journal of Hematology
2007 Volume.42 No. 3 p.296 ~ p.300
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Novel PML-RARA Fusion Gene on Chromosome 17 in Acute Promyelocytic Leukemia with Normal Chromosome 15 and 17
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Kim Kyoung-Ha
Won Jong-Ho
Jeung Ki-Ju
Lee Sang-Cheol
Kim Hyun-Jung
Bae Sang-Byung
Kim Chan-Kyu
Lee Nam-Su
Lee Kyu-Taek
Park Sung-Kyu
Hong Dae-Sik
Park Hee-Sook
Lee You-Kyoung
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Abstract
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We describe a patient with acute promyelocytic leukemia (APL) with no detectable cytogenetic abnormality of either chromosomes 15 or 17 who nevertheless had juxtaposition of promyelocytic leukemia (PML) and retinoic acid receptor-α (RARA) and expressed a chimeric transcript. Conventional cytogenetics showed the 46, XX. The metaphase fluorescence in situ hybridization (FISH) with a 5’ PML and 3’ RARA probe showed a juxtaposed PML-RARA fusion signal on one chromosome 17 homologue, an RARA signals on the other chromosome 17 homologue, and one PML signal on each chromosome 15 homologue. Our patient is presently in remission and doing well after chemotherapy with idarubicin and all trans retinoic acid (ATRA) treatment. Our results show that APL patients with cytogenetically normal chromosome 15 and 17 may, nevertheless, have involvement of both PML and RARA genes and as the prognostic outcome in APL is associated with the presence of a PML-RARA fusion, it is necessary to perform RT-PCR or FISH to aid diagnosis
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KEYWORD
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Acute promyelocytic leukemia, PML-RARA, Insertional translocation
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