Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells
Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells
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DOI：
10.1007/s11102-015-0669-y
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发表时间：
2015-12-01
期刊：
影响因子：
3.8
通讯作者：
Tallini, Giovanni
中科院分区：
文献类型：
--
作者：
Marucci, Gianluca;de Biase, Dario;Tallini, Giovanni
目的 评价 CTNNB1 高灵敏度二代测序（NGS）对非腺瘤性颅咽管瘤（aCPs）诊断和 BRAF 对常规处理的非腺瘤性鞍区病变手术样本中乳头状 CPs（pCPs）诊断的作用。 方法 回顾性收集 2004 年至 2014 年因鞍区非腺瘤性肿块手术的 45 例患者。意大利博洛尼亚贝拉里亚医院解剖病理科的档案。通过NGS分析小于1 cm(3)的样本中的BRAF和CTNNB1突变状态，并对所有病例进行组织学重新评估。结果CTNNB1突变分析显示aCP诊断的敏感性为86.7%，特异性为96.2%。考虑到在一个最初被分类为非 CP 病变（黄色肉芽肿）的病例中，CTNNB1 S47R 的识别导致组织学重新评估并将病变重新分类为 aCP，特异性增加到 100%。 BRAF 突变分析对 pCP 诊断的敏感性为 76.9%，特异性为 96.4%。考虑到在一个最初被分类为 Rathke 囊肿的病例中，BRAF V600E 的鉴定导致组织学重新评估并将病变重新分类为 pCP，特异性增加到 100%。 结论 这项研究证实了最近在 aCP 和 pCP 中鉴定出的分子改变的诊断相关性，并显示了 BRAF 和 CTNNB1 突变的鉴定如何有助于对包含有限量诊断物质的样本进行正确分类。病变组织。
Purpose To assess the role of high sensitivity next-generation sequencing (NGS) of CTNNB1 for the diagnosis of adamantinomatous craniopharyngiomas (aCPs) and of BRAF for that of papillary CPs (pCPs) in routinely processed surgical samples of nonadenomatous sellar lesions.Methods Forty-five cases of patients operated for nonadenomatous masses of the sellar region between 2004 and 2014 were retrieved from the files of the Anatomic Pathology unit of the Bellaria Hospital in Bologna, Italy. BRAF and CTNNB1 mutation status was analyzed by NGS in samples smaller than 1 cm(3) and histological re-evaluation was performed on all cases.Results CTNNB1 mutation analysis showed a sensitivity of 86.7 % and a specificity of 96.2 % for the diagnosis of aCPs. The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. BRAF mutation analysis had a sensitivity of 76.9 % and a specificity of 96.4 % for the diagnosis of pCPs. The specificity increased to 100 % considering that in one case, initially classified as a Rathke cyst, the identification of BRAF V600E lead to histological re-evaluation and reclassification of the lesion as pCP.Conclusions This study confirms the diagnostic relevance of the molecular alterations recently identified in aCPs and pCPs and shows how the identification of BRAF and CTNNB1 mutations can be instrumental for the proper classification of samples that contain limiting amounts of diagnostic lesional tissue.