Gerber Tiemo S, Schad Arno, Hartmann Nils, Springer Erik, Zechner Ulrich, Musholt Thomas J
Endocrine Surgery SectionDepartment of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany
Department of PathologyUniversity Medicine, Mainz, Germany.
Endocr Connect. 2018 Jan;7(1):47-55. doi: 10.1530/EC-17-0290. Epub 2017 Nov 13.
Poorly differentiated thyroid carcinoma (PDTC) is a rare malignancy with higher mortality than well-differentiated thyroid carcinoma. The histological diagnosis can be difficult as well as the therapy. Improved diagnosis and new targeted therapies require knowledge of DNA sequence changes in cancer-relevant genes. The TruSeq Amplicon Cancer Panel was used to screen cancer genomes from 25 PDTC patients for somatic single-nucleotide variants in 48 genes known to represent mutational hotspots. A total of 4490 variants were found in 23 tissue samples of PDTC. Ninety-eight percent (4392) of these variants did not meet the inclusion criteria, while 98 potentially pathogenic or pathogenic variants remained after filtering. These variants were distributed over 33 genes and were all present in a heterozygous state. Five tissue samples harboured not a single variant. Predominantly, variants in (43% of tissue samples) were identified, while less frequently, variants in , , , , and (each in 17% of tissue samples) as well as , and (each in 13% of tissue samples) were observed. This study identified new potential genetic targets for further research in PDTC. Of particular interest are four observed (alias ) variants, which have not been connected to this type of thyroid carcinoma so far. In addition, and mutations have not been reported in this subtype of cancer either. In contrast to other reports, we did not find variants.
低分化甲状腺癌（PDTC）是一种罕见的恶性肿瘤，其死亡率高于高分化甲状腺癌。组织学诊断以及治疗都可能具有挑战性。改进诊断方法和新型靶向治疗需要了解癌症相关基因中的DNA序列变化。使用TruSeq扩增子癌症检测板对25例PDTC患者的癌症基因组进行筛选，以寻找48个已知代表突变热点的基因中的体细胞单核苷酸变异。在23个PDTC组织样本中共发现4490个变异。其中98%（4392个）的变异不符合纳入标准，经过筛选后仍有98个潜在致病或致病变异。这些变异分布在33个基因上，均以杂合状态存在。5个组织样本未发现任何变异。主要发现了 （占组织样本的43%）中的变异，而较少见的是 、 、 、 、 （各占组织样本的17%）以及 、 和 （各占组织样本的13%）中的变异。本研究确定了PDTC进一步研究的新潜在遗传靶点。特别值得关注的是观察到的4个 （别名 ）变异，它们迄今为止尚未与这种类型的甲状腺癌相关联。此外，在这种癌症亚型中也未报道过 和 突变。与其他报告不同的是，我们未发现 变异。
