Department of Pathology, Sanggye Paik Hospital, Inje University, Seoul, Korea.
Department of Pathology, Dongsan Medical Center, Keimyung University, Daegu, Korea.
Histopathology. 2017 Nov;71(5):805-812. doi: 10.1111/his.13292. Epub 2017 Sep 6.
Gastrointestinal stromal tumours (GISTs) may arise anywhere in the gastrointestinal tract, but are rare in the oesophagus. We describe the clinical, pathological and molecular characteristics of 27 primary oesophageal GISTs, the largest series to date.
DNA was extracted and exons 9, 11, 13 and 17 of KIT, exons 12, 14 and 18 of PDGFRA and exon 15 of BRAF were amplified and sequenced. Oesophageal GISTs occurred in 14 men and 13 women aged between 22 and 80 years (mean: 56 years). All 27 cases were immunohistochemically positive for KIT, and 92 and 47% co-expressed CD34 or smooth muscle actin, respectively. Fifteen (71% of analysed cases) harboured KIT exon 11 mutations and one case each had a mutation in KIT exon 13 (K642E) or BRAF exon 15 (V600E). Long-term follow-up data (median, 96.5 months) were obtained for 20 cases; two patients had metastases at presentation and seven had developed local recurrence and/or metastasis after surgery. A large tumour size (≥ 10 cm), high mitotic rate (> 5/5 mm ), presence of a deletion mutation in KIT exon 11 involving codons 557-558 and a positive microscopic margin were associated with recurrence and metastasis. The KIT mutations identified in oesophageal GISTs are similar to those observed in gastric GISTs.
Complete surgical resection with clear margins is recommended, if technically feasible, and genotyping can help to improve diagnosis and further patient management in oesophageal GIST.
胃肠道间质瘤（GIST）可发生于胃肠道的任何部位，但在食管中较为罕见。我们描述了 27 例原发性食管 GIST 的临床、病理和分子特征，这是迄今为止最大的系列研究。
提取 DNA，并扩增和测序 KIT 外显子 9、11、13 和 17、PDGFRA 外显子 12、14 和 18 以及 BRAF 外显子 15。食管 GIST 发生于 22 至 80 岁（平均年龄 56 岁）的 14 名男性和 13 名女性。所有 27 例均免疫组织化学检测 KIT 阳性，分别有 92%和 47%的病例共表达 CD34 或平滑肌肌动蛋白。15 例（分析病例的 71%）存在 KIT 外显子 11 突变，1 例存在 KIT 外显子 13（K642E）或 BRAF 外显子 15（V600E）突变。对 20 例进行了长期随访（中位时间 96.5 个月）；2 例患者在就诊时发生转移，7 例患者在手术后发生局部复发和/或转移。肿瘤较大（≥10cm）、有丝分裂率较高（>5/5mm）、KIT 外显子 11 缺失突变涉及密码子 557-558 以及阳性显微镜切缘与复发和转移相关。食管 GIST 中发现的 KIT 突变与胃 GIST 中观察到的突变相似。
如果技术可行，建议进行完整的外科切除并保证切缘清晰，如果可行，基因分型有助于提高诊断水平并进一步改善食管 GIST 患者的管理。
