IHC标记: 图1-2 SYN； 图3-4 GFAP。

 感谢王主任的总结！

 

感谢Dr.海浪信使的总结！

请注意：上传的MRI照片均为文献中的照片，是不同的病人。本病例亦非常典型，但是我目前无照片，有机会将上传。

 
患者无外伤病史。
病理诊断：小脑发育不良性节细胞瘤（非肿瘤性病变，WHO I 级）
与PTEN基因突变有关，是PTEN错构瘤综合征家庭成员之一（见下列文献）。
PTEN hamartoma tumor syndromes
The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome 10q22–23 and negatively regulates the prosurvival PI3K/Akt/mTOR pathway through its lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. Clinical management of patients with PHTS, particularly those with CS, should include early and frequent screening, surveillance, and preventive care for associated malignancies. Concomitant with improved understanding of the biology of PTEN and the PI3K/Akt/mTOR pathway, inhibitors of this pathway are being developed as anticancer agents. These medications could have applications for patients with PHTS, for whom no medical options currently exist.

MRI示特征性改变。

不是毛细胞型星形细胞瘤