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Objective To analyze the clinical features and pathological diagnosis of 3 cases of pineal region papillary tumor(PTPR), and review the related literature. Methods Three cases of PTPR patients were collected in the First Affiliated Hospital of Xinjiang Medical University from January 2012 to March 2021, and studied by HE staining and immunohistochemistry to observe its histological morphology and immunohistochemical phenotype. Combined with reviewing the relevant literature to understand the molecular characteristics of the disease and find potential therapeutic targets. Results The first symptom in the three PTPR patients were headache and intracranial hypertension. Histological examination showed that PTPR tumor cells formed a single-layer or stratified papillary structure surrounding the vascular. The distribution of the tumor cells had polarity, with more abundant cells near the vascular. Immunohistochemistry reveals strong reactivity for AE1/AE3, CAM5.2, cytokeratin 18 (CK18) and pair box 8(PAX8). The staining for vimentin (VIM) showed positive which is especially dense in cells near the vessel. The staining for nervous marker S-100 displayed diffuse positive in two cases while focal positive in the other one, while both glial fibrillary acidic protein(GFAP) and oligodendrocyte transcription-2 (OLIG-2) were negative in all the three cases. PTEN expression deficiency and p-Akt positive expression in the three cases. Literature reviews obtained 9 reports relevant to the molecular mechanism of PTPR, with 7 of them using genomic hybridization to detect chromosomal alterations in 29(29/62) patients, among which chromosome 10 loss and chromosome 8 gain were observed in 96.6%(28/29) cases and 57.1%(16/28) cases, respectively. Conclusions Exhibiting specific papillary structures, PTPR displayed specific immunohistochemical characteristics, which is helpful for diagnosis. PTEN protein deletion and positive expression of p-Akt and PAX8 suggested that PAX8, PTEN and PI3K/Akt/mTOR signal pathways played a potential role in the occurrence and development of PTPR and may become potential therapy targets.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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