腮腺源性唾液腺肿瘤19例细胞基因组异常分析。

Case Reports in Genetics Pub Date : 2020-12-02 eCollection Date: 2020-01-01 DOI:10.1155/2020/8897541
Marie Zerjav, Autumn DiAdamo, Brittany Grommisch, Amato Katherine, Hongyan Chai, Gang Peng, Peining Li
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引用次数: 1

摘要

源自腮腺的唾液腺肿瘤(sgt)是一组种类繁多的肿瘤,由于其罕见和相似的形态模式而难以分类。染色体分析可以检测克隆异常,阵列比较基因组杂交(aCGH)分析可以确定肿瘤标本的拷贝数改变(CNAs)。在提交细胞基因组学分析的19例不同类型sgt中,9例(47%)检测到异常克隆,14例(74%)检测到CNAs。这些病例定义了涉及PLAG1基因8q12的复发性重排,复发性CNAs包括6q, 9p (CDKN2A)和17p (TP53)缺失,Y染色体缺失和7号染色体获得。联合核型分析和aCGH分析可提高诊断率。进一步研究SGT分类与细胞基因组异常的更精确相关性将有助于更好的诊断和治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin.

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin.

Salivary gland tumors (SGTs) of parotid origin are a group of diverse neoplasms which are difficult to classify due to their rarity and similar morphologic patterns. Chromosome analysis can detect clonal abnormalities, and array comparative genomic hybridization (aCGH) analysis can define copy number alterations (CNAs) from tumor specimens. Of the 19 cases of various types of SGTs submitted for cytogenomic analyses, an abnormal clone was detected in nine cases (47%), and CNAs were detected in 14 cases (74%). Recurrent rearrangements involving the PLAG1 gene at 8q12, recurrent CNAs including deletions of 6q, 9p (CDKN2A), and 17p (TP53), loss of Y chromosome, and gain of chromosome 7 were defined from these cases. Combined karyotyping and aCGH analyses could improve diagnostic yield. Future study for more precisive correlation of SGT classification with cytogenomic abnormalities will facilitate better diagnosis and treatment.

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