Tetraploid acute promyelocytic leukemia with double t(15;17) and PML/RARA rearrangements detected by fluorescence in situ hybridization analysis.
Acute promyelocytic leukemia (APL) is characterized by a serious hemorrhagic syndrome, unique morphologic findings, and its response to retinoids. Tetraploidy is a very rare chromosomal abnormality in acute myelocytic leukemia. This report presents a unique case of APL with a tetraploid clone characterized by two t(15;17) without other chromosomal changes, as well as PML/RARA rearrangements confirmed fluorescence in situ hybridization. The morphology of the blast cells was that of the classic M3 subtype, but the mean blast size exceeded that of control APL cases with diploidy. A chromosomal study revealed a 92,XXXX,t(15;17)(q22;q21)x2 karyotype in all 20 metaphase spreads. Despite all-trans-retinoic acid (ATRA) treatment and chemotherapy, leukemic cells persisted in the blood, and the patient died of an intracranial hemorrhage on the 16th day after admission.
Oh
Seung Hwan
SH
Department of Laboratory Medicine, Pusan National University, Pusan 602-739, Korea.
Park
Tae Sung
TS
Kim
Hyung Hoi
HH
Chang
Chulhun L
CL
Lee
Eun Yup
EY
Son
Han Chul
HC
Chung
Joo Seop
JS
Cho
Goon Jae
GJ
D000782:Aneuploidy; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins
D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000071156:Promyelocytic Leukemia Protein; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human