小唾液腺粘液腺癌DNA拷贝数畸变的筛查:两例报告

Kenichiro Uchida , Atsunori Oga , Takamitsu Mano , Hitoshi Nagatsuka , Yoshiya Ueyama , Kohsuke Sasaki
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引用次数: 15

摘要

摘要粘液腺癌是一种罕见的小唾液腺恶性肿瘤。据我们所知,这种肿瘤的基因组改变以前没有报道过。为了确定DNA拷贝数畸变,我们应用比较基因组杂交(CGH)对来自两名患者的小唾液腺MAC样本进行了分析:一名患者的原发肿瘤和两个宫颈转移淋巴结,另一名患者的原发肿瘤。拷贝数增加通常在1q21 ~ q31和20q13中检测到,这可能在MAC癌变中起重要作用。在患者1的所有三个样本中,1q、12p、12q和20q的拷贝数增加是常见的,在转移性淋巴结的两个样本中,另外还检测到7p的增加和4号染色体的缺失。在染色体区域8q22 ~ qter、12p11 ~ p12、12q11 ~ q21和20q13中也检测到扩增。荧光原位杂交检测MDM2 (12q15)和AURKA (20q13)基因的扩增。在小唾液腺MAC中检测到的DNA拷贝数畸变与结直肠MAC中检测到的DNA拷贝数畸变不同。本研究在鉴定小唾液腺引起的MAC基因组改变方面是新颖的。
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Screening for DNA copy number aberrations in mucinous adenocarcinoma arising from the minor salivary gland: two case reports

Mucinous adenocarcinoma (MAC) is a rare malignancy in the minor salivary gland. To our knowledge, genomic alterations in this tumor have not been reported previously. To identify DNA copy number aberrations, we applied comparative genomic hybridization (CGH) to four samples of MAC in minor salivary gland derived from two patients: a primary tumor and two cervical metastatic lymph nodes from one patient, and a primary tumor from the other patient. Copy number increases were commonly detected in 1q21∼q31 and 20q13, and these may play an important role in MAC carcinogenesis. Copy number increases in 1q, 12p, 12q, and 20q were commonly detected in all three samples derived from patient 1, and gain of 7p and loss of chromosome 4 were additionally detected in the two samples derived from metastatic lymph nodes. Amplifications were also detected in the chromosomal regions 8q22∼qter, 12p11∼p12, 12q11∼q21, and 20q13. Amplification of MDM2 (12q15) and of AURKA (20q13) was detected with fluorescence in situ hybridization. The DNA copy number aberrations detected in MAC in minor salivary glands were different from those reported for colorectal MAC. The present findings are novel in identifying genomic alterations of MAC arising from the minor salivary gland.

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