CD2+ tetraploid acute promyelocytic leukemia variant with double (15;17) translocations.
We report a patient with a variant form of CD2+ acute promyelocytic leukemia (APL) who had double translocations (15;17) in a single leukemic cell. The patient presented with severe neutropenia, thrombocytopenia, and disseminated intravascular coagulation. The bone marrow showed marked hyperplasia with large leukemic cells that had bizarre nuclear configuration and basophilic, hypogranular cytoplasm. Leukemic cells were positive for CD2, 13, 33, 34, and 56 and negative for HLA-DR. The karyotype of the abnormal clone was characterized as 92,XXYY, t(15;17)(q22;q21)x2. No other additional abnormal clone was found, and the patient's condition was diagnosed as tetraploid APL variant. Fluorescence in situ hybridization assay revealed 2 promyelocytic leukemia and retinoic acid receptor alpha (PML/RARA) fusion signals, and reverse transcription-polymerase chain reaction assay revealed short-form PML/RARA fusion transcript. Tetraploidy in APL is a very rare abnormality. Double translocations were an additional abnormality in this case, and this patient's karyotype might have had some influence on morphological characteristics, expression of CD2, and poor clinical outcome.
Kaito
Ken
K
Central Clinical Laboratory, Jikei University Hospital, Tokyo, Japan. ken.kaito@jikei.ac.jp
Otsubo
Hiroko
H
Dobashi
Nobuaki
N
Usui
Noriko
N
Kobayashi
Masayuki
M
D018801:CD2 Antigens / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D017809:Fatal Outcome; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011003:Ploidies; D014178:Translocation, Genetic
D018801:CD2 Antigens
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