Author/Editor		Zagorac, Andreja; Erjavec-Skerget, Alenka; Zagradišnik, Boris; Zver, Samo; Glaser, Marjana; Kokalj-Vokač, Nadja
Title		Karyotype, FISH and CGH in a case of plasmacytoid dendritic cell leukemia
Translated title		Kariotip, fluorescentna hibridizacija in situ in primerjalna genomska hibridizacija na primeru levkemije plazmacitoidnih dendritičnih celic
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 309-13
Language		eng
Abstract		CD4(+)CD56(+) malignancies are rare hematologic neoplasms, which have recently been shown to correspond to type 2 dendritic cell (DC2) or plasmacytoid dendritic cells. We present a case of CD4(+)CD56(+), acute leukemia that coexpressed CD 123 +, HLA - DR+ , CD 36+, CD 38+, CD 45RA+ and was CD 3 negative, showed a typical clinical course of plasmacytoid dendritic cell leukemia, and had an unexplained aberrant karyotype. The proband's karyotype revealed the absence of one normal chromosome 13 and 21, additional material attached to the short arm of chromosome 20 and two copies of marker chromosome. The additional material on 20p was characterized by FISH using chromosome paints, as part of chromosome 13. The two copies of marker chromosome were identified as two isochromosomes for 21 q using CGH and FISH. FISH analysis also showed the deletion of chromosome region 13q14.3 (D13S25 locus) in 80% of examined interphase nuclei. We ascertained that the proband's karyotype was 46,XY, -13, der(20)t(13;20)(q12;p12),i(21 q),+i(21 q). Our results illustrate the power of FISH and CGH to detect and characterize chromosomal rearrangements that could not be solved solely with classical cytogenetic analysis.
Descriptors		LEUKEMIA, PLASMACYTIC KARYOTYPING IN SITU HYBRIDIZATION