Epithelioid Hemangioendothelioma (EHE)

What are the symptoms of epithelioid hemangioendothelioma?

EHE typically appears in young adults, though the tumor may be diagnosed in younger or older adults. The symptoms of EHE depend on the tumor's location and can differ from patient to patient. Some patients experience no symptoms at all and learn that they have an EHE when undergoing an imaging test (such as anMRI或者CT scan) for another reason.

EHE tumors can arise anywhere in the body but are most often found in the liver, lung and bones.

• Tumors in the liver may cause abdominal pain, weight loss, blood work alterations or an abdominal mass.
• 肺部病变可能会导致慢性干咳嗽，呼吸急促或其他问题。
• 骨骼中的EHE会导致疼痛或减弱骨骼，从而导致骨折的风险增加。
• 首先，皮肤病变可能与其他皮肤状况混淆。通常，直到活检后，医生才考虑涉及皮肤的诊断。

Keep in mind, this condition is exceedingly rare, and the presence of any of these symptoms does not necessarily mean that your child has EHE.

What causes epithelioid hemangioendothelioma?

EHE的原因目前未知。它没有继承，因此亲戚和未来的孩子没有增加风险。然而，研究人员最近发现了遗传易位（两个基因的有问题的联系或融合，导致基因活性不受管制），可以作为未来疗法的靶标。

How do we diagnose epithelioid hemangioendothelioma?

诊断上皮性血管内皮瘤（EHE）是一个在几个阶段发生的过程，部分原因是与EHE相关的皮肤病变通常与更常见的皮肤状况混淆。大多数情况下，第一步将是完整的病史和彻底的身体检查。其他测试可能包括：

• 血液检查
• 磁共振成像（MRI）
• 计算机断层扫描(CT scan)
• X射线
• 活检

Certain characteristics of your child’s EHE may determine whether it requires more aggressive treatment, including:

• its location
• the appearance of a biopsy under a microscope
• whether the tumor has changed in size or spread to other tissues

What are the treatment options for epithelioid hemangioendothelioma?

Your child’s treatment depends on the size and location of the tumor and whether there are multiple tumor sites.

In rare cases, the tumor may shrink or go away without treatment. If not, there are multiple treatment options available. Your child’s care team will discuss the benefits of each one. They include:

• Watchful waiting: If your child has no symptoms and there are no signs the tumor is progressing, the doctor may want to observe the tumor for a period of time to determine whether treatment is necessary
• Surgery: Small or easily accessible tumors may be fully removed. Tumors completely removed with surgery most likely do not recur. Sometimes, complete removal is not possible due to the size, location or presence of multiple tumor sites. In these cases, remaining tumors may require further therapy and can come back after treatment
• Medication management: A customized drug therapy plan can help relieve symptoms and prevent further growth of tumors that can’t be completely removed with surgery

药物

Currently, no drug specifically targets EHE cells. However, some tumors shrink and even become invisible with therapy. Some of these medications are categorized as “chemotherapy,” meaning they may also be used for some types of cancer.

药物used to treat EHE include:

• Sirolimus: Also known as rapamycin, this oral medication suppresses the immune system and slows the growth of abnormal lymphatic vessels that form the tumor. This can help shrink EHE tumors and improve symptoms, including pain
• Tyrosine kinase inhibitors:这些药物,设计有针对性的治疗cancers, have shown short-term success with EHE. Examples include sorafenib, sunitinib and pazopanib.
• 长春新碱：这种化学疗法的药物靶向人体内部的所有分裂细胞，因此用于治疗许多癌症。它也用于侵袭性良性血管肿瘤。
• Interferon: The body produces interferon to combat infections or control inflammation. It has been formulated into a medication that targets blood vessel growth.
• Multi-agent chemotherapy: EHE tumors that grow rapidly, spread to other tissues or do not respond to other medications may require more aggressive drug therapy. However, this combination of medications is rarely needed in children and young adults with EHE.

How are aggressive epithelioid hemangioendothelioma tumors treated?

In very aggressive cases, or when tumors do not respond to these therapies, additional treatment options may include:

• 栓塞：这种最小的侵入性手术阻止了喂养肿瘤的主要动脉。随着血液供应的切断，肿瘤通常会收缩。在几个动脉进食肿瘤的情况下，我们不会尝试栓塞，而EHE通常是这种情况。
• Radiation: If we can’t remove your child’s tumor surgically and it doesn’t respond to chemotherapy or other medications, we may consider using radiation therapy in rare cases for solitary tumors or individual symptomatic tumors.

What is the follow-up care for epithelioid hemangioendothelioma?

Your child should have regular follow-up appointments during and after treatment to check for:

• recurrence of the tumor
• any drops in platelet count
• growth of the lesion

您的孩子的护理团队将为您提供后续护理时间表，以了解您的孩子如何应对治疗并监控任何治疗的后期影响。

上皮性血管内皮瘤儿童的长期前景是什么？

EHE is such a rare condition and behaves so differently from person to person that it’s difficult to determine the long-term outlook for your child.

您孩子的预后很大取决于：

• 疾病的程度（肿瘤的大小以及是否扩散）
• the size and location of the tumor, which determine whether it can be surgically removed (tumors arising in the liver and those that are in multiple locations may be more aggressive)
• the results of the biopsied tissue (areas of cell death and markers of cell replication may indicate more aggressive tumors)
• response to therapy
• 您孩子的整体健康
• 您孩子对特定药物，程序或疗法的容忍度
• new developments in treatment

How we care for epithelioid hemangioendothelioma

Because epithelioid hemangioendotheliomas are so rare, very few doctors have experience diagnosing and treating them. The血管异常中心at Boston Children's Hospital, in partnership with the Dana-Farber/Boston Children'sSolid Tumor Center，评估了EHE的儿童比世界上任何其他医院都多。

VAC的医生（代表16个医学和外科专科），包括专门诊断血管异常的放射科医生和病理学家 - 借鉴了这些经验，以不断完善疗法并为EHE儿童获得更好的长期结局。我们的团队共同有经验或确认对EHE的诊断，并建议最好的治疗选择。

The VAC currently cares for many EHE patients from afar, seeing them in person on an infrequent basis but coordinating closely with providers close to their homes.