title: CD2+ tetraploid acute promyelocytic leukemia variant with double (15;17) translocations.
abstract: 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.
authors.affiliation: Central Clinical Laboratory, Jikei University Hospital, Tokyo, Japan. ken.kaito@jikei.ac.jp
authors.forename: Ken
authors.initials: K
authors.lastname: Kaito
authors.forename: Hiroko
authors.initials: H
authors.lastname: Otsubo
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Dobashi
authors.forename: Noriko
authors.initials: N
authors.lastname: Usui
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: 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
chemical_list: D018801:CD2 Antigens
references.citation: J Exp Med. 1990 Dec 1;172(6):1571-5
references.pmid: 2175343
references.citation: Cancer Genet Cytogenet. 1996 Feb;86(2):107-15
references.pmid: 8603334
references.citation: Am J Hematol. 2001 May;67(1):34-41
references.pmid: 11279655
references.citation: Cancer Genet Cytogenet. 2003 Sep;145(2):169-71
references.pmid: 12935930
references.citation: Cancer Res. 2002 Aug 15;62(16):4730-5
references.pmid: 12183432
references.citation: Lancet. 1977 Mar 5;1(8010):549-50
references.pmid: 65649
references.citation: Cytometry B Clin Cytom. 2004 May;59(1):1-9
references.pmid: 15108165
references.citation: Cancer Genet Cytogenet. 2003 Aug;145(1):49-53
references.pmid: 12885462
references.citation: Br J Haematol. 2000 Dec;111(3):801-6
references.pmid: 11122141
references.citation: Am J Clin Pathol. 2004 Mar;121(3):402-7
references.pmid: 15023045
references.citation: Int J Hematol. 2004 May;79(4):405-6
references.pmid: 15218975
references.citation: Nature. 1990 Oct 11;347(6293):558-61
references.pmid: 2170850
references.citation: Cancer Genet Cytogenet. 2004 Mar;149(2):131-6
references.pmid: 15036889