Institute of Pathology, Klinikum Augsburg, Augsburg, Germany.
Department of Radiooncology, Klinikum Augsburg, Augsburg, Germany.
Langenbecks Arch Surg. 2019 Aug;404(5):605-613. doi: 10.1007/s00423-019-01773-2. Epub 2019 Mar 15.
Gastrointestinal stromal tumors (GISTs) are the most common soft tissue tumors of the GI tract. Studies have been published reporting additional neoplasms in GIST patients. This study aimed to evaluate possible associations of mutation type, morphology, and clinical aspects of GISTs.
All cases of GIST were identified from our pathology files. Coding exons of KIT and PDGFRA in GISTs with additional malignancies were sequenced.
A total of 70 of 188 (37%) retrieved patients with confirmed diagnosis of GIST showed at least one additional malignant neoplasm. Fifty of these GISTs were located in the stomach (71%), 8 in the small intestine (11%), 5 in the colon/rectum (7%), and 7 cases (6.2%) were of undetermined sites of origin. The distribution of identified mutations was similar to that described in GISTs without secondary malignancies. A total of 37 of 57 cases (65%) showed mutations in the KIT gene exon 11, 3 (5%) cases in exon 9, and 1 (2%) case in exon 13. Nine tumors (16%) had mutations of the PDGFRA gene. KIT and PDGFRA wild-type status were found in seven cases (12%). Most of the secondary neoplasms were located within the GI tract (34%), in the urogenital system (24%), or the breast/female genital tract (20%).
This study confirms the high rate of additional malignant tumors in GIST patients. GIST features in these cases are very similar to those with sole GIST.
胃肠道间质瘤（GIST）是胃肠道最常见的软组织肿瘤。已有研究报告 GIST 患者存在其他肿瘤。本研究旨在评估 GIST 突变类型、形态和临床特征之间的可能关联。
从我们的病理档案中确定所有 GIST 病例。对伴有其他恶性肿瘤的 GIST 中 KIT 和 PDGFRA 的编码外显子进行测序。
总共从 188 例经证实的 GIST 患者中发现了 70 例（37%）至少存在一种其他恶性肿瘤。其中 50 例 GIST 位于胃（71%），8 例位于小肠（11%），5 例位于结肠/直肠（7%），7 例（6.2%）起源不明。鉴定出的突变分布与无继发性恶性肿瘤的 GIST 相似。在 57 例中有 37 例（65%）显示 KIT 基因外显子 11 突变，3 例（5%）显示外显子 9 突变，1 例（2%）显示外显子 13 突变。9 例肿瘤（16%）存在 PDGFRA 基因突变。KIT 和 PDGFRA 野生型状态在 7 例（12%）中发现。大多数继发性肿瘤位于胃肠道内（34%）、泌尿生殖系统（24%）或乳腺/女性生殖系统（20%）。
本研究证实了 GIST 患者存在较高的额外恶性肿瘤发生率。这些病例中的 GIST 特征与单纯 GIST 非常相似。
