ICD-O coding: 8976/1 Gastroblastoma

ICD-0编码：8976/1胃母细胞瘤

ICD-11 coding: None

ICD-11编码：无

Related terminology: None

相关术语：无

Subtype(s): None

亚型：无

Localization: Only 12 examples   have been reported, all in the gastric muscularis propria; 8 were antral, 2   were of the body, and 1 was of the fundus. The precise site of the last was   not reported.

部位：目前仅报道12例，均位于胃固有肌层；其中胃窦8例，胃体2例，胃底1例，最后报道的一例无准确位置。

Figure 1. Enhanced computed tomography   scan showed a mass in the gastric antrum (arrow).     图1（来源文献2）：增强CT扫描显示胃窦一肿块（箭头）。

Clinical features: Most patient   present with abdominal pain or epigastric pain, some with fatigue, and some   with haematochezia. In some patients, a mass lesions is detected on physical   examination. The reproted tumours have ranged in size from 3.8 to 15cm (mean:   7cm; median: 6cm).

临床特点：大多数患者表现为腹痛或上腹痛，部分患者伴有乏力或便血。部分患者是在体检中发现肿块。文献报道的肿瘤大小为3.8～15cm（平均7cm，中位6cm）。

Epidemiology: The reported   patients with gastroblastoma have ranged in age from 9 to  56 years (mean: 24 years; median:27 years).   There appears to a male predominance, with cases reported in 8 males and 4   femals to date.

流行病学：文献报道的胃母细胞瘤患者年龄为9～56岁（平均：24岁；中位：27岁）。好发于男性（男性8例，女性4例）。

Etiology: Unknown

病因：不明

Pathogenesis: Other than an   association with a characteristic gene fusion (MALAT1-GLI1), the   pathogenesis of these neoplasms is unknown. Somatic MALAT1-GLI1 gene   fusion is shared by some examples of plexiform fibromyxoma, which is also a   neoplasm of the gastric muscularis propria. However, all reported cases of   plexiform fibromyxoma are benign. Because gastroblastomas are biphasic, some   examples have been tested for SS18 fusions, which were not found,   distinguishing these neoplasms from synovial sarcoma.

发病机制：除了与特征性基因融合（MALAT1-GLI1）相关外，这些肿瘤的发病机制尚不清楚。体细胞MALAT1-GLI1基因融合也可出现于丛状黏液粘液瘤中，丛状纤维粘液瘤也是发生于胃固有肌层的肿瘤。但是，所有报道的丛状纤维黏液瘤都是良性的。由于胃母细胞瘤是双相分化，部分病例检测 SS18融合基因无阳性发现，因此这些肿瘤不同于滑膜肉瘤。

Macroscopic appearance: Gastroblastoma is   centred in the muscularis propria of the stomach and grows in nodules, some   with surrounding sclerosis.

大体表现：胃母细胞瘤位于胃固有肌层，呈结节状生长，部分伴有周围硬化。

Figure   2. Gross photo of gastroblastoma. The mass was red-gray, well-circumscribed   and protruded towards the serosal surface.

图2（来源文献2）：大体上，肿块灰红色，边界清楚，向浆膜面突出。

Histopathology: Gastroblastoma   shows a biphasic histology, consisting of uniform spindle cells and uniform   epithelial cells arranged in nests. There are varying proportions of spindle   and epithelial cells in any given neoplasm. The epithelial cells have scant   pale cytoplasm, round nuclei, and inconspicuous nucleoli. The spindle cell   component is monotonous and the cells are long and slender, often in a myxoid   background. Areas of mineralization can be encountered. Mitoses are rare in   most cases (with exceptions), and mitotic counts seem unrelated to outcome.   On immunolabelling, the epithelial component expression various  pancytokeratins and shows focal labelling for   CD56 and CD10, whereas the spindle cell component lacks expression of   keratins, instead labelling for CD56 and CD10. Importantly, there is no   expression of Kit, DOG1, CD34, SMA,desmin, synaptophysin, chromogranin, or   S100.

组织病理学：胃母细胞瘤呈双相分化，由细胞形态一致的梭形细胞和排列成巢状的上皮细胞组成。在不同的肿瘤中，梭形细胞和上皮细胞的比例不同。上皮细胞胞质淡染，核圆形，核仁不明显。梭形细胞形态单一，细胞呈细长形，常位于黏液样背景中。可有钙化。大多数病例核分裂象是罕见的（也有例外），核分裂象似乎与（预后等）结果无关。免疫表型上，上皮成分不同程度表达广谱角蛋白，局灶显示CD56和CD10阳性表达，而梭形细胞成分不表达角蛋白，表达CD56和CD10。重要的是，kit（CD117）、DOG1、CD34、SMA、desmin、Syn、CgA或S100阴性表达。

Figure 3. Microscopic   findings of gastroblastoma. A: The tumor consisted of spindle to oval cells   and the tumor cells were mainly arranged in the fascicles, sheets and cords.   B: The tumor exhibited invasive property in the smooth muscle layers of the   stomach. C: The tumor cells had small round nucleoli and the boundaries were   not clear. D: The epithelial elements had luminal differentiation with   intraluminal inspissated eosinophilic secretions and blended into the   mesenchymal component. E: The tumor cells were aligned like the hemangioma   partly in the loose area. F: In the loose reticular area some tumor cells   arranged in a spiral pattern.

图3（来源文献2）：肿瘤由梭形细胞至卵圆形细胞组成，肿瘤细胞主要呈束状、片状、条索状排列（A）；肿瘤侵犯肌层（B）；肿瘤细胞核仁小而圆，边界不清（C）；上皮细胞成分可见管腔形成，腔内含嗜酸细胞分泌物（D）；在疏松区域肿瘤细胞部分呈血管瘤样排列（E）；在疏松的网状区域，部分瘤细胞呈螺旋状排列（spiral pattern）（F）。

Cytology: Not clinically   relevant

细胞学：无临床相关的

Diagnostic molecular   pathology: Demonstration of the MALAT1-GLI1 fusion gene in tumour cells is   required for the diagnosis of gastroblastoma.

分子诊断病理学：诊断胃母细胞瘤必须要肿瘤细胞存在MALAT1-GLI1融合基因。

Essential and desirable   diagnostic criteria:

Essential：biphasic histology, with   spindle cells and nests of epithelial cells; MALAT1-GLI1 fusion gene.

必要的和有帮助的诊断标准：

必要的：双相分化组织形态，有梭形细胞和上皮细胞巢；MALAT1-GLI1融合基因。

Staging (TNM): Gastroblastoma is   staged as gastric adenocarcinoma.

分期（TNM）：胃母细胞瘤的分期和胃腺癌一样。

Prognosis and prediction: Most patients have   had surgical resection of their neoplasms. Of 11 patients with available   information, 7 have had uneventful follow-up for as long as 14 years, but the   median reported follow-up is only 12 months. Liver metastases were reported   in 2 patients at presentation (one of whom also had lymph node and peritoneal   spread), lymph node metastases in one other patient, and local recurrence in   another. No follow-up was available for the last. Chemotherapy, tested in a   limited number of cases, has been ineffective. The number of reported cases   is too low to define prognostic or predictive markers.

预后和预测：大多数患者已接受肿瘤切除术。在有相关资料的11名患者中，有7名患者的随访时间长达14年，但平均随访时间只有12个月。有2例患者出现肝转移（其中一例有淋巴结和腹膜转移），另一例有淋巴结转移，另一例局部复发。最近报道的一例没有随访。进行过化疗的病例数有限，无可用价值。由于报道病例数太少，无法确定其预后或预测指标。