视网膜母细胞瘤

概述

视网膜母细胞瘤是一种源于视网膜（眼内敏感黏膜）的眼癌。视网膜母细胞瘤最常影响幼儿，但极少数情况下也会出现在成人中。

视网膜由神经组织组成，这些组织会感应从眼睛的前方射入的光。视网膜通过视神经向大脑发送信号，大脑会将这些信号解读为图像。

视网膜母细胞瘤是一种罕见的眼癌，也是最常见的一种影响儿童眼睛的癌症。视网膜母细胞瘤可能出现在一只或两只眼睛中。

症状

由于视网膜母细胞瘤主要影响婴儿和幼儿，因此症状并不常见。您可能注意到的体征包括：

• 光线射入眼睛（例如用闪光灯给孩子拍照）时眼睛中圈（瞳孔）为白色
• 双眼似乎看向不同的方向
• 低视力
• 眼睛发红
• 眼睛肿胀

何时就诊

如果您发现孩子眼睛的变化令人担忧，请与孩子的医生约诊。视网膜母细胞瘤是一种罕见的癌症，因此孩子的医生可能先检查其他较为常见的眼睛疾病。

如果您有视网膜母细胞瘤的家族史，请在计划生孩子时咨询医生。

病因

视网膜中的神经细胞发生基因突变时，会形成视网膜母细胞瘤。当健康细胞死亡时，这些突变会导致细胞继续生长和增殖。聚集的细胞团块形成肿瘤。

视网膜母细胞瘤细胞还会进一步入侵眼睛和附近的结构。视网膜母细胞瘤还可以扩散（转移）到身体的其他部位，包括大脑和脊柱。

对于大多数视网膜母细胞瘤，尚不清楚是什么原因导致引发癌症的基因突变。但是，孩子可能从父母那里遗传基因突变。

风险因素

Risk factors for retinoblastoma include:

• Young age. Retinoblastoma is most common in very young children. It's typically diagnosed by age 2. Retinoblastoma that happens later in life is very rare.
• DNA changes that run in families. DNA variations that increase the risk of retinoblastoma can be passed from parents to children. Children with these inherited DNA changes tend to get retinoblastoma at a younger age. They also tend to have retinoblastoma in both eyes.

并发症

接受过视网膜母细胞瘤治疗的儿童有癌症在接受过治疗的眼内和眼周复发的风险。因此，医生会安排随访检查，以检查复发性视网膜母细胞瘤。医生可能会为您的孩子制定个性化的复诊安排，其中包括频繁的眼科检查。

此外，在治疗后的数年内，患有遗传性视网膜母细胞瘤的儿童在身体任何部位患其他类型癌症的风险都会增加，尤其是松果体母细胞瘤（一种脑肿瘤）。因此，患有遗传性视网膜母细胞瘤的儿童可能需要进行定期检查，以筛查其他癌症。

Cancer that comes back

After treatment, there is a risk that the cancer might come back in the eye or near it. For this reason, your child's healthcare team will create a plan of follow-up appointments. Your child's follow-up plan will depend on the treatments your child received. A typical plan might involve eye exams every few months for the first few years after treatment.

Increased risk of other cancers

Children with the form of retinoblastoma that can run in families may have a higher risk of getting other kinds of cancer.

The risk of these cancers is increased:

• Bone cancer.
• Bladder cancer.
• Breast cancer.
• Hodgkin lymphoma.
• Lung cancer.
• Melanoma.
• Pineoblastoma.
• Soft tissue sarcoma.

Your child's healthcare team might recommend tests to screen for these other types of cancers.

预防

医生并不清楚大多数视网膜母细胞瘤病例的病因，因此该疾病尚无经过验证的预防方法。

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