Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion
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DOI：
10.1182/blood-2011-03-337501
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发表时间：
2011-10-27
期刊：
影响因子：
20.3
通讯作者：
Berti, Emilio
中科院分区：
文献类型：
--
作者：
Lucioni, Marco;Novara, Francesca;Berti, Emilio
母细胞性浆细胞样树突状细胞肿瘤（BPDCN）是由浆细胞样树突状细胞的前体细胞分化而来的一种罕见的侵袭性恶性肿瘤。我们分析了21例基于芯片的比较基因组杂交（aCGH）。完全或部分染色体丢失的数量大大超过了获得的数量，常见的缺失区域包括9p21.3（CDKN 2A/CDKN 2B），13q13.1-q14.3（RB 1），12p13.2-p13.1（CDKN 1B），13 q11-q12（LATS 2）和7p12.2（IKZF 1）区域。通过FISH证实CDKN 2A/CDKN 2B缺失。这种情况认为，细胞周期在G1/S转换中断，代表BPDCN的遗传里程碑，并可能有助于其发病机制。在我们的研究中，对总生存率的统计分析强调了9p21.3位点双等位基因缺失与不良预后的相关性。我们认为，在没有可靠的参数来预测预后BPDCN比年龄，肿瘤分期，和/或临床表现，简单的方法，如FISH的CDKN 2A/CDKN 2B，可以帮助确定最积极的情况下。（血。2011; 118（17）：4591-4594）
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. (Blood. 2011; 118(17): 4591-4594)