1. Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion
- Author
-
Marco Lucioni, Roberta Riboni, Erica Travaglino, Francesco Onida, Emanuela Boveri, Francesca Novara, Giacomo Fiandrino, Mariarosa Arra, Daniele Fanoni, Elena Dallera, Orsetta Zuffardi, Luigia Venegoni, Marta Nicola, Emilio Berti, Marco Paulli, Pamela Vezzoli, Luca Arcaini, Lucioni, M, Novara, F, Fiandrino, G, Riboni, R, Fanoni, D, Arra, M, Venegoni, L, Nicola, M, Dallera, E, Arcaini, L, Onida, F, Vezzoli, P, Travaglino, E, Boveri, E, Zuffardi, O, Paulli, M, and Berti, E
- Subjects
Adult ,Male ,Heterozygote ,Skin Neoplasms ,Lymphoma ,Immunology ,Locus (genetics) ,Biology ,Malignancy ,Biochemistry ,Cohort Studies ,Young Adult ,MED/15 - MALATTIE DEL SANGUE ,CDKN2A ,CDKN2B ,MED/35 - MALATTIE CUTANEE E VENEREE ,medicine ,Humans ,Allele ,Child ,Alleles ,Aged ,Aged, 80 and over ,Comparative Genomic Hybridization ,Dendritic Cells ,Cell Biology ,Hematology ,Middle Aged ,Cell cycle ,medicine.disease ,dendritic cells, plasmocytoid, blastic neoplasia, molecular analysis, prognosis ,Genetic Loci ,Hematologic Neoplasms ,Cancer research ,Female ,CDKN1B ,Chromosome Deletion ,Chromosomes, Human, Pair 9 ,Comparative genomic hybridization - 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 G1/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.
- Published
- 2011