费城儿童医院研究人员推荐针对与ALK突变相关遗传性神经母细胞瘤家族的新护理标准-动脉网

Children's Hospital of Philadelphia Researchers Recommend New Standard of Care for Families with Hereditary Neuroblastoma Linked to ALK Mutation

CISION 等信源发布 2025-05-06 22:53

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New approach could update treatment and monitoring protocols

新方法可以更新治疗和监测方案

PHILADELPHIA

费城

，

May 6, 2025

2025年5月6日

/PRNewswire/ -- Researchers at

/PRNewswire/ -- 研究人员

Children's Hospital of

儿童医院

Philadelphia

费城

(CHOP) highlighted the success of anaplastic lymphoma kinase (ALK) inhibition therapy in treating hereditary neuroblastoma, a rare subset of a common childhood cancer. Researchers suggest that the findings, published recently in

(CHOP) 强调了间变性淋巴瘤激酶 (ALK) 抑制疗法在治疗遗传性神经母细胞瘤方面的成功，这是一种常见儿童癌症的罕见亚型。研究人员表示，最近发表在

JCO Precision Oncology

JCO精准肿瘤学

，

could help establish a new standard of care.

可以有助于建立新的护理标准。

Despite significant advances in the treatment of high-risk neuroblastoma, the 5-year survival rate after diagnosis remains less than 50%. However,

尽管高危神经母细胞瘤的治疗取得了显著进展，但诊断后的5年生存率仍然不足50%。然而，

Yael P. Mossé, MD

Yael P. Mossé，医学博士

, a senior study author and a Professor of Pediatrics in CHOP's

，资深研究作者，CHOP儿科教授

Cancer Center

癌症中心

, and her team have previously found that most familial cases are linked to the

，她的团队之前发现大多数家族病例与

ALK

mutation, which can be tested for and directly targeted. In this case report, Mossé focused on a mother and daughter who were both diagnosed with neuroblastoma and carried the

突变，可以进行检测并直接针对治疗。在此病例报告中，莫斯着重关注了一对母女，她们都被诊断出患有神经母细胞瘤并且携带这种基因。

ALK

R1275Q mutation, demonstrating how they achieved long-term remission with targeted

R1275Q 突变，展示了他们如何通过靶向治疗实现长期缓解的。

ALK

inhibitors.

抑制剂。

'Our research marks a major advancement in precision medicine for patients predisposed to hereditary neuroblastoma,' said Mossé. 'With these findings, we can offer new hope for affected families and pave the way for more personalized, less invasive treatment strategies in pediatric oncology.'

“我们的研究标志着对遗传性神经母细胞瘤患者精准医学的重大进步，”莫斯说道。“通过这些发现，我们可以为受影响的家庭带来新的希望，并为小儿肿瘤学中更个性化、更低侵入性的治疗策略铺平道路。”

In the study, researchers demonstrated that small molecule

在研究中，研究人员证明了小分子

ALK

inhibitors, initially developed for sporadic neuroblastoma with non-inherited

抑制剂，最初是为非遗传性的散发性神经母细胞瘤开发的

ALK

mutations, could be even more effectively implemented for hereditary cases. The daughter was diagnosed with neuroblastoma at six months old and following standard chemotherapy and surgery that failed her, she responded dramatically to the

突变，可以更有效地应用于遗传病例。女儿在六个月大的时候被诊断出患有神经母细胞瘤，在标准的化疗和手术失败后，她对该治疗产生了显著的反应。

ALK

inhibitor, crizotinib, after her cancer recurred.

抑制剂，克唑替尼，在她的癌症复发后。

The mother, who had been asymptomatic, was diagnosed at 36 years old with bilateral adrenal tumors during a pregnancy five years later. After delivering a healthy baby, she began crizotinib, later switching to a different

这位母亲在五年前的一次怀孕期间，36岁时被诊断出患有双侧肾上腺肿瘤，而她当时并无任何症状。在生下一名健康的婴儿后，她开始服用克唑替尼，后来换成了另一种药物。

ALK

inhibitor, alectinib, due to side effects. Following surgical removal of the tumors, the mother continued alectinib treatment and has maintained remission several years. Both the mother and daughter undergo semiannual surveillance with whole-body MRI and circulating tumor DNA (ctDNA) testing with no evidence of disease recurrence. .

抑制剂，由于副作用。在手术切除肿瘤后，母亲继续服用阿来替尼治疗，并且已经保持了数年的缓解。母女俩每半年接受一次全身核磁共振成像和循环肿瘤DNA（ctDNA）检测的监测，没有疾病复发的迹象。

The authors say the report could change how hereditary neuroblastoma for patients with an

作者表示，该报告可能会改变对患有遗传性神经母细胞瘤患者的治疗方式。

ALK

mutation is treated and followed. They recommend

变异得到处理和追踪。他们建议

ALK

inhibitors as a frontline therapy for patients with the inherited mutations, potentially reducing the need for intensive chemotherapy and surgery. They also stress the importance of lifelong monitoring, challenging current guidelines that end surveillance in childhood. Next, the researchers plan to study whether people with hereditary .

抑制剂作为携带遗传突变患者的前线治疗药物，可能会减少对强化疗和手术的需求。他们还强调了终身监测的重要性，挑战了目前在儿童时期结束监测的指南。接下来，研究人员计划研究携带遗传性突变的人群是否。

ALK

have a lower risk of developing drug resistance than those with non-inherited mutations.

比那些具有非遗传突变的人产生药物抗性的风险更低。

The research was supported by Alex's Lemonade Stand Foundation, Patricia Brophy Endowed Chair in Neuroblastoma Research and National Cancer Institute (NCI) R35 CA220500.

该研究得到了 Alex's Lemonade Stand 基金会、Patricia Brophy 神经母细胞瘤研究捐赠基金以及美国国家癌症研究所（NCI）R35 CA220500 的支持。

Mossé et al. 'Anaplastic Lymphoma Kinase Inhibition Therapy for Hereditary Neuroblastoma.

莫斯等人。《遗传性神经母细胞瘤的间变性淋巴瘤激酶抑制疗法》

' JCO Precis Onc.

JCO精准肿瘤学。

Online

在线

April 28, 2025

2025年4月28日

. DOI: 10.1200/PO-24-00886.

About Children's Hospital of

关于儿童医院

Philadelphia

费城

：

A non-profit, charitable organization, Children's Hospital of

一个非营利性的慈善组织，儿童医院

Philadelphia

费城

was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide.

成立于1855年，是美国第一家儿科医院。通过其长期以来对提供卓越患者护理、培养新一代儿科医疗专业人员以及开创重大研究计划的承诺，该医院促进了众多造福全球儿童的发现。

Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its .

其儿科研究项目是国内规模最大的之一。该机构有着悠久的历史，通过其设施为家庭附近的儿童提供先进的儿科护理。

CHOP Care Network

CHOP护理网络

, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout

其中包括50多家初级保健诊所、专科护理和手术中心、紧急护理中心，以及遍布各地的社区医院联盟。

Pennsylvania

宾夕法尼亚州

and

和

New Jersey

新泽西州

. CHOP also operates the

CHOP 还运营着

Middleman Family Pavilion

中间人家庭馆

and its dedicated pediatric emergency department in