Cancer predisposition syndromes are associated with an increased risk of developing primary malignancies. Here we discuss those which are associated with an increased risk of tumors of the central nervous system (CNS) and gastrointestinal (GI) tract. These can be grouped into those in which the CNS tumors predominate versus those in which the GI cancers predominate. The former include constitutional mismatch repair deficiency (CMMRD) syndrome, Li-Fraumeni syndrome (LFS), and Cowden syndrome (CS) while the latter include familial adenomatosis polyposis 1 (FAP1), Lynch syndrome and polymerase proofreading-associated polyposis syndrome (PPAP). Tumor specificity does exist as medulloblastoma occur in FAP, LFS and CMMRD while glioma are most commonly seen in all replication repair-deficient genes and LFS. Choroid plexus carcinoma is strictly observed in LFS while Cowden syndrome patients develop Lhermitte Duclos disease or meningioma. In each syndrome, specific types of low-grade and high-grade gastrointestinal cancers can occur, but these will be discussed elsewhere. Underlying cancer predisposition syndromes are important to consider when faced with brain tumors, particularly in the pediatric and young adult age groups, as identification of an underlying germ line mutation may change the upfront management of the patient and has implications for future cancer surveillance for both the patient and potentially affected family members. Considerations of family history, presence of skin lesions and consanguinity provide valuable information in identifying patients at potential increased risk.

中文翻译：

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脑肿瘤息肉病综合征的中枢神经系统表现的更新。

癌症易感综合症与发生原发性恶性肿瘤的风险增加有关。在这里，我们讨论与中枢神经系统（CNS）和胃肠道（GI）肿瘤风险增加相关的那些。这些可分为中枢神经系统肿瘤占主导地位和胃肠道肿瘤占主导地位。前者包括体质失配修复缺陷综合征（CMMRD）综合征，Li-Fraumeni综合征（LFS）和考登综合征（CS），而后者包括家族性腺瘤病息肉病1（FAP1），林奇综合征和聚合酶校正相关性息肉病综合征（PPAP） 。肿瘤特异性确实存在，因为髓母细胞瘤发生在FAP，LFS和CMMRD中，而神经胶质瘤最常见于所有复制修复缺陷基因和LFS中。在LFS中严格观察到脉络丛癌，而Cowden综合征患者则发展为Lhermitte Duclos病或脑膜瘤。在每种综合症中，都会发生特定类型的低度和高度胃肠道癌症，但这些将在其他地方讨论。潜在的癌症易感综合症在面对脑部肿瘤时，尤其是在小儿和成年年龄组中，很重要的考虑因素，因为潜在的种系突变的识别可能会改变患者的前期管理方式，并且对未来的癌症监测都具有重要意义。耐心和可能受影响的家庭成员。家族病史，皮肤病变的存在和血缘关系的考虑为确定潜在风险增加的患者提供了有价值的信息。