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涎腺PRKD1野生型经典多形性低度腺癌中缺乏PRKD2和PRKD3激酶结构域体细胞突变。

Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland.

作者信息

Piscuoglio Salvatore, Fusco Nicola, Ng Charlotte K Y, Martelotto Luciano G, da Cruz Paula Arnaud, Katabi Nora, Rubin Brian P, Skálová Alena, Weinreb Ilan, Weigelt Britta, Reis-Filho Jorge S

机构信息

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Division of Pathology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.

出版信息

Histopathology. 2016 Jun;68(7):1055-62. doi: 10.1111/his.12883. Epub 2016 Jan 4.

Abstract

AIMS

Polymorphous low-grade adenocarcinoma (PLGA) is the second most common intra-oral salivary gland malignancy. The vast majority of PLGAs harbour a PRKD1 E710D hot-spot somatic mutation or somatic rearrangements of PRKD1, PRKD2 or PRKD3. Given the kinase domain homology among PRKD1, PRKD2 and PRKD3, we sought to define whether PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements would be driven by somatic mutations affecting the kinase domains of PRKD2 or PRKD3.

METHODS AND RESULTS

DNA was extracted from eight microdissected PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements. Samples were thoroughly centrally reviewed, microdissected and subjected to Sanger sequencing of the kinase domains of the PRKD2 and PRKD3 genes. None of the PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements harboured somatic mutations in the kinase domains of the PRKD2 or PRKD3 genes.

CONCLUSION

PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements are unlikely to harbour somatic mutations in the kinase domains of PRKD2 or PRKD3. Further studies are warranted to define the driver genetic events in this subgroup of PLGAs.

摘要

目的

多形性低度恶性腺癌(PLGA)是口腔唾液腺第二常见的恶性肿瘤。绝大多数PLGA存在PRKD1 E710D热点体细胞突变或PRKD1、PRKD2或PRKD3的体细胞重排。鉴于PRKD1、PRKD2和PRKD3之间的激酶结构域同源性,我们试图确定缺乏PRKD1体细胞突变或PRKD基因家族重排的PLGA是否由影响PRKD2或PRKD3激酶结构域的体细胞突变驱动。

方法与结果

从8例缺乏PRKD1体细胞突变或PRKD基因家族重排的显微切割PLGA中提取DNA。样本经过全面的集中复查、显微切割,并对PRKD2和PRKD3基因的激酶结构域进行桑格测序。缺乏PRKD1体细胞突变或PRKD基因家族重排的PLGA均未在PRKD2或PRKD3基因的激酶结构域中存在体细胞突变。

结论

缺乏PRKD1体细胞突变或PRKD基因家族重排的PLGA不太可能在PRKD2或PRKD3的激酶结构域中存在体细胞突变。有必要进一步研究以确定该亚组PLGA中的驱动基因事件。

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