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前沿基因研究有望为治疗肾母细胞瘤患儿带来新的福音

Cristina and mum at GOSH

In 2014, Cristina was diagnosed with Wilms’ tumour – a form of kidney cancer mainly affecting children under five years of age. Though kidney cancers in children are rare, Wilms’ tumour is the most common type.      

Following months of chemotherapy at Great Northern Children’s Hospital at the Royal Victoria Infirmary in Newcastle, she was transferred to Great Ormond Street Hospital for Children (GOSH) for surgery.  

Cristina had her left kidney removed, and a partial nephrectomy (where a part of the kidney is removed) on the right kidney. Following surgery, the GOSH Play team stepped in to help during the recovery period.  

“The play team brought her books and colouring and did their best to entertain her, I think we even watched Frozen from her bed one day when they brought the DVD player and tv into her room,” says dad, James.  

Following surgery, Cristina continued to have chemotherapy for another six months, finishing in late 2014. 

It was recently announced that a new study has uncovered a genetic cause of the disease, paving the way to improved treatments and the potential to one day screen for cancers like this before they develop. 

Supported in part by GOSH Charity, the study compares healthy kidney tissue with Wilms’ tumour tissue – comparing the genetics to better understand the causes of the disease. 

By being able to better identify kidney tissue where cancer is present, the findings could help to avoid the need for kidney removal in children like Cristina in the future.  

As Dr Kathy Pritchard-Jones, Professor of Paediatric Oncology at ICH, says: “This new information helps us understand who is at high risk and why some tumours come back. My hope is that in future we’ll be able to develop treatments that focus on these patches of abnormal tissue without having to sacrifice one or both kidneys.”