多灶性散发性胃肠道间质瘤患者的临床病理特征、诊断线索和预后：病例系列及文献复习。
Clinicopathologic characteristics, diagnostic clues, and prognoses of patients with multiple sporadic gastrointestinal stromal tumors: a case series and review of the literature.
机构信息
Department of Gastrointestinal Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, 200127, People's Republic of China.
Department of Pathology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, People's Republic of China.
出版信息
Diagn Pathol. 2020 May 14;15(1):56. doi: 10.1186/s13000-020-00939-7.
BACKGROUND
Most sporadic gastrointestinal stromal tumors (GISTs) occur as solitary tumors, while multiple sporadic GISTs are extremely rare and often misdiagnosed as metastatic GISTs, leading to inappropriate treatment. This study aimed to investigate the clinicopathological characteristics, diagnostic clues, and prognoses of multiple sporadic GISTs.
METHODS
Twenty-seven patients with multiple sporadic GISTs and 11 patients with metastatic GISTs mimicking sporadic GISTs were analyzed. The clinicopathological characteristics, genetic mutation types, and prognoses were summarized. In addition, 1066 cases of primary GISTs with a single lesion diagnosed at the same hospital were included as controls.
RESULTS
Compared with 1066 cases of primary GIST with a single lesion, multiple sporadic GISTs occurred at an older age, were more common in women than in men, and were located mainly in the stomach. They were generally small in size, had a low mitotic index and were more often rated as very low risk/low risk. Mutation analysis of all available lesions revealed different KIT/PDGFRA mutation patterns among tumors from the same patients. No patient relapsed during the follow-up period. Among 11 patients with metastatic GISTs that mimicked multiple sporadic GISTs, multiple lesions from the same patient always had concordant pathological and mutational characteristics; namely, they carried an identical KIT/PDGFRA mutation, and the mitotic index was usually high.
CONCLUSIONS
The prognoses of patients with multiple sporadic GISTs were not worse than those of patients with a single lesion of the same risk under the same treatment. When it was difficult to distinguish multiple sporadic GISTs from metastatic GISTs, multiple lesions in the same patient carried different KIT/PDGFRA mutation patterns, which supported tumor multiplicity, while the concordant hypermitotic phase in multiple lesions of GISTs suggested that the tumor was metastatic.
背景
大多数散发性胃肠道间质瘤（GIST）为单发肿瘤，而多发散发性 GIST 极为罕见，常误诊为转移性 GIST，导致治疗不当。本研究旨在探讨多发散发性 GIST 的临床病理特征、诊断线索和预后。
方法
分析了 27 例多发散发性 GIST 患者和 11 例误诊为散发性 GIST 的转移性 GIST 患者。总结了其临床病理特征、基因突变类型和预后。此外，还纳入了在同一医院诊断为单发病变的 1066 例原发性 GIST 作为对照。
结果
与 1066 例单发原发性 GIST 相比，多发散发性 GIST 发病年龄较大，女性多于男性，主要发生在胃。肿瘤一般较小，有较低的核分裂象指数，且更多被评为极低危/低危。对所有可获得病变的突变分析显示，同一患者的肿瘤存在不同的 KIT/PDGFRA 突变模式。在随访期间，无患者复发。在 11 例误诊为多发散发性 GIST 的转移性 GIST 患者中，同一患者的多个病灶始终具有一致的病理和突变特征；即，它们携带相同的 KIT/PDGFRA 突变，核分裂象指数通常较高。
结论
在相同治疗下，多发散发性 GIST 患者的预后并不比单发同样风险的患者差。当难以区分多发散发性 GIST 和转移性 GIST 时，同一患者的多个病灶具有不同的 KIT/PDGFRA 突变模式，支持肿瘤多发性，而 GIST 多个病灶中一致的高度有丝分裂期提示肿瘤为转移性。
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