Institute of Pathology, University Hospital of Basel, Basel, Switzerland.
Institute of Pathology, Stadtspital Triemli, Zürich, Switzerland.
Pathobiology. 2020;87(3):171-178. doi: 10.1159/000505407. Epub 2020 Feb 20.
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract. It has distinct molecular features and primarily affects the KIT and PDGFRA genes.
We wanted to assess the molecular profile of 68 GIST patients who were sequenced consecutively between 2014 and 2019 at our institute of pathology.
Our cohort comprised 60 primary and 8 metastatic GIST patients; 43 and 57% of the cases, respectively, were analyzed by Sanger sequencing or next-generation sequencing (NGS).
Of the 60 primary GIST patients, 47 (78%) showed a KIT mutation; 2 cases showed a double KIT mutation, and 1 of these was a therapy-naive GIST. Nine (15%) patients harbored a PDGFRA mutation, 2 (3%) had a BRAF mutation, 1 (2%) had a PIK3CA mutation, and 1 (2%) did not show any mutation. One BRAF and the PIK3CA mutation have not been described in GIST before. All metastatic GIST harbored exclusively KIT mutations.
A retrospective analysis of GIST sequenced at our institute revealed incidences of KIT and PDGFRA mutations comparable to those in other cohorts from Europe. Interestingly, we found 2 previously undescribed mutations in the BRAF and PIK3CA genes as well as 1 treatment-naive case with a double KIT mutation in exon 11.
胃肠道间质瘤（GIST）是胃肠道最常见的间叶性肿瘤。它具有独特的分子特征，主要影响 KIT 和 PDGFRA 基因。
我们想评估我们病理研究所连续 2014 年至 2019 年间测序的 68 例 GIST 患者的分子谱。
我们的队列包括 60 例原发和 8 例转移 GIST 患者；分别有 43%和 57%的病例通过桑格测序或下一代测序（NGS）进行分析。
在 60 例原发 GIST 患者中，47 例（78%）显示 KIT 突变；2 例显示双 KIT 突变，其中 1 例为初治 GIST。9 例（15%）患者携带 PDGFRA 突变，2 例（3%）患者携带 BRAF 突变，1 例（2%）患者携带 PIK3CA 突变，1 例（2%）未显示任何突变。一个 BRAF 和 PIK3CA 突变以前未在 GIST 中描述过。所有转移性 GIST 仅携带 KIT 突变。
对我院测序的 GIST 进行回顾性分析，发现 KIT 和 PDGFRA 突变的发生率与欧洲其他队列相似。有趣的是，我们在 BRAF 和 PIK3CA 基因中发现了 2 个以前未描述的突变，以及 1 个初治病例在 11 号外显子中出现双 KIT 突变。
