title: Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.
abstract: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive malignancy derived from precursors of plasmacytoid dendritic cells. We analyzed 21 cases with array-based comparative genomic hybridization (aCGH). Complete or partial chromosomal losses largely outnumbered the gains, with common deleted regions involving 9p21.3 (CDKN2A/CDKN2B), 13q13.1-q14.3 (RB1), 12p13.2-p13.1 (CDKN1B), 13q11-q12 (LATS2), and 7p12.2 (IKZF1) regions. CDKN2A/CDKN2B deletion was confirmed by FISH. This scenario argues for disruption of cell cycle at G(1)/S transition, representing a genetic landmark of BPDCN, and possibly contributing to its pathogenesis. Statistical analysis of overall survival in our series highlighted an association of poor outcome with biallelic loss of locus 9p21.3. We suggest that, in the absence of reliable parameters for predicting prognosis in BPDCN other than age, tumor stage, and/or clinical presentation, simple methods, such as FISH for CDKN2A/CDKN2B, could help to identify the most aggressive cases.
authors: University of Pavia Medical School, Istituti di Ricovero e Cura a Carattere Scientifico, San Matteo, Italy. m.lucioni@smatteo.pv.it
authors: Marco
authors: M
authors: Lucioni
authors: Francesca
authors: F
authors: Novara
authors: Giacomo
authors: G
authors: Fiandrino
authors: Roberta
authors: R
authors: Riboni
authors: Daniele
authors: D
authors: Fanoni
authors: Mariarosa
authors: M
authors: Arra
authors: Luigia
authors: L
authors: Venegoni
authors: Marta
authors: M
authors: Nicola
authors: Elena
authors: E
authors: Dallera
authors: Luca
authors: L
authors: Arcaini
authors: Francesco
authors: F
authors: Onida
authors: Pamela
authors: P
authors: Vezzoli
authors: Erica
authors: E
authors: Travaglino
authors: Emanuela
authors: E
authors: Boveri
authors: Orsetta
authors: O
authors: Zuffardi
authors: Marco
authors: M
authors: Paulli
authors: Emilio
authors: E
authors: Berti
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D003713:Dendritic Cells / Q000378:metabolism / Q000473:pathology*; D005260:Female; D056426:Genetic Loci; D019337:Hematologic Neoplasms / Q000235:genetics* / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D008223:Lymphoma / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology; D055815:Young Adult