血管母细胞瘤

【双语病例】血管母细胞瘤 hemangioblastoma

来源：双语学影像；本期病例选自AuntMinnie.com

Our appreciation is extended to Dr. James Chen, University of Pennsylvania Department of Radiology, for contributing this case.

History and MR images

History

A 26-year-old man presents with headache, nausea, and worsening lethargy over the last month.

26岁男性，近一个月来出血头疼，恶心，嗜睡逐渐加重。

Brain MR images are shown below. In order: T2, fluid-attenuated inversion recovery (FLAIR), gradient recalled echo (GRE), pregadolinium T1, postgadolinium T1, and coronal postgadolinium T1. Click to enlarge.

1.There is a lesion centered in the cerebellar vermis.

病灶中心在小脑蚓部

True

False

2.The lesion is predominantly cystic.

病灶以囊性为主

True

False

3.There is an enhancing solid mural component.

实性的壁结节增强后强化。

True

False

4.There is a large amount of associated vasogenic edema.

病灶周围见大范围的血管源性水肿

True

False

5.Which of the following is the most likely diagnosis?

Abscess 脓肿

Astrocytoma 星形细胞瘤

Cavernous malformation 海绵状血管畸形

Hemangioblastoma 血管母细胞瘤

Medulloblastoma 髓母细胞瘤

6.What is the World Health Organization (WHO) grade for the above lesion?

Grade I

Grade II

Grade III

Grade IV

7.This lesion is associated with which of the following syndromes?

该病可能与以下哪些症状有关？

Sturge-Weber syndrome

Lynch syndrome

Joubert syndrome

Lennox-Gastaut syndrome

von Hippel-Lindau (VHL) syndrome

选择题答案：

1. False

2. True

3. True

4. False

5. Hemangioblastoma

6. Grade I

7. von Hippel-Lindau（VHL） syndrome

Additional Questions

The patient undergoes resection of the cerebellar mass lesion and surgical pathology confirms the diagnosis of hemangioblastoma.

该患者进行了小脑肿瘤切除术，病理证实为血管母细胞瘤

1.Which of the following locations for central nervous system (CNS) hemangioblastomas has the strongest association with VHL disease?

以下哪些部位的CNS血管母细胞瘤与VHL关系最密切？

Supratentorial 幕上

Cerebellar 小脑

Spinal cord 脊髓

Medullary 延髓

Leptomeningeal 软脑膜

2.Which of the following tumors are associated with VHL?

以下哪些肿瘤可能与VHL有关?

Endolymphatic sac tumors 内淋巴囊肿瘤

Renal cell carcinoma 肾细胞癌

Pancreatic neuroendocrine tumors 胰腺神经内分泌肿瘤

Pheochromocytomas 嗜铬细胞瘤

All of the above

3.Following resection of the hemangioblastoma, this patient is at greatest risk for which of the following?

血管母细胞瘤切除术后，该患者发生下列哪项的几率最大？

Local recurrence 局部复发

Supratentorial metastasis 幕上转移

Leptomeningeal metastasis 脑膜转移

Extracranial metastasis 颅外转移

选择题答案：

1. Spinal cord

2. All of the above

3. Local recurrence

Differential Diagnosis

• Metastasis 转移瘤

• Cavernous malformation 海绵状血管畸形

• Abscess 脓肿

• Astrocytoma 星形细胞瘤

Diagnosis

hemangioblastoma

血管母细胞瘤

Key Points

Hemangioblastoma is a benign, slow-growing vascular tumor of the central nervous system (CNS).

血管母细胞瘤是一种良性的、生长缓慢的、血管源性中枢神经系统肿瘤

• 1% to 2.5% intracranial neoplasms.

  约占全部颅内肿瘤的1%-2.5%

• Most common primary cerebellar neoplasm in adults.

  成人最常见的原发性小脑肿瘤

Histologic and radiographic appearance varies by type:

根据病理及影像学表现分为四型：

• Type 1 (5%): Simple cyst without macroscopic nodule

  单纯囊性，不伴有结节

• Type 2 (60%): Simple cyst with mural nodule

  囊性伴有壁结节

• Type 3 (26%): Solid tumor

  实性肿瘤

• Type 4 (9%): Solid tumor with small internal cysts

  实性肿瘤内伴有囊性部分

WHO grade 1 tumor, low proliferation index

WHO 1级，生长缓慢。

• Symptoms typically due to mass effect from growth of the cystic portion of the lesion.

  临床症状主要是由于病变囊性生长所引起的占位效应

• Leptomeningeal spread is rare.

  沿软脑膜播散罕见

Associated with ectopic erythropoietin production in 5% to 40% cases with resultant secondary polycythemia.

与异位促红细胞生成素的产生有关，约5%-40%的患者有继发性红细胞增多。

Sporadic or familial forms (notably no difference histologically between tumors):

散发型或家族型：（肿瘤的组织学没有明显的差异）

Sporadic 散发型(60% to 75% cases)

• Rare in children

  儿童罕见

• Most common in 30s to 50s

  多见于30-50岁

• Male predilection

  男性好发

Familial 家族型(25% to 40% cases)

von Hippel-Lindau (VHL)-associated

多与VHL相关

• Tends to present earlier than sporadic.

  发病年龄一般早于散发型

• More likely to present with multiple lesions.

  常表现为多发

• Although cerebellar involvement is the most common, spinal cord lesions have the highest association with VHL.

  最好发生于小脑，但发生于脊髓的病变与VHL关系最为密切。