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Bladder Cancer

Unlocking Wilms Tumors: How Genes, Imprinting, and Mosaics Contribute to Childhood Cancer

A biobank for pediatric kidney tumors plays a key role in identifying hereditary causes of Wilms tumors. New insights gained with its help enable better risk assessment for affected families and could form the basis for targeted screening and improved early detection.
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5 months ago

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Wilms tumors are rare kidney cancers that affect young children. Researchers at the Biocenter of Julius-Maximilians-Universität Würzburg (JMU) have made significant strides in understanding the genetic predisposition behind these tumors. By analyzing samples from over 1,800 affected children, they found that a staggering 90% of cases had underlying predispositions.

The JMU’s Wilms tumor biobank has been instrumental in this research, providing access to a vast collection of patient samples gathered over nearly three decades. This treasure trove allowed the team to identify mutations in crucial genes like WT1, which plays a key role in suppressing tumors. In many cases, the researchers found that the first copy of the WT1 gene was already compromised in all body cells, increasing the risk of kidney failure and genital malformations in boys.

However, it was only when the second copy of the WT1 gene failed in kidney cells that actual tumor formation occurred. This process was further triggered by the activation of the growth factor IGF2. The researchers discovered that a significant portion of patients had a disturbance in genomic imprinting of the IGF2 gene, leading to the development of tumors.

What’s remarkable is that this epigenetic predisposition is not hereditary and does not increase the risk for siblings. In these cases, children often exhibit “mosaics,” where cells with normal and impaired IGF2 imprinting coexist. If mutations in other genes occur in kidney cells with disturbed IGF2 regulation, tumors develop.

The implications of this study are profound. The researchers now make a strong case for broad molecular testing of blood and tumor samples from young patients to identify cases with an increased risk at an early stage. This would enable close monitoring and potentially prevent secondary tumors or early kidney failure in affected individuals.

Source:University of Würzburg
Original Link:https://www.sciencedaily.com/releases/2025/05/250527124537.htm
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Bladder Cancer

Rethinking FOXR2 Activation in Brain Tumors: A Breakthrough in Diagnosis and Care

Scientists have implicated the FOXR2 gene in previously unassociated brain tumor types, with implications for diagnosis, prognosis and treatment.
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6 months ago

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April 17, 2025

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The world of medicine is abuzz with a groundbreaking discovery that challenges the long-held assumption about the genetic marker FOXR2. For years, physicians have relied on this marker to diagnose central nervous system (CNS) neuroblastoma, a type of brain tumor. However, new research from St. Jude Children’s Research Hospital reveals that FOXR2 activation is not exclusive to CNS neuroblastoma. In fact, it was found in multiple pediatric CNS tumor types, including brain tumors, with significantly different clinical outcomes.

According to Dr. Jason Cheng-Hsuan Chiang, corresponding author of the study, “People have been using FOXR2 activation as a clinical diagnostic for CNS neuroblastoma. But we unexpectedly saw it in a patient’s recurrent non-neuroblastoma tumor, which motivated us to look into other brain tumors.” The researchers used data from the St. Jude Cloud, a vast repository of genomic and sequencing data from St. Jude patients, to identify 42 tumors with activated FOXR2 in 41 patients.

The findings were published today in Neuro-Oncology, a journal of the Society for Neuro-Oncology. “When we looked at the clinical outcomes of the different types of tumors with FOXR2 activation, there was a pretty stark difference,” said co-first author Emily Hanzlik, MD. “The CNS neuroblastomas had an exceptionally good outcome when they were treated with multimodal therapy, whereas the other types of tumors in the cohort, the high-grade gliomas and the pineoblastomas, had pretty dismal outcomes.”

This study highlights the importance of combining molecular findings like DNA and RNA sequencing, histology, and imaging to correctly understand a specific brain tumor. “Only with a holistic view can we choose the best treatment approach for that patient,” Dr. Chiang emphasized.

The discovery of undetected mechanisms of FOXR2 activation in multiple brain tumor types has significant implications for diagnosis, prognosis, and treatment. As Dr. Alexa Siskar, co-first author, noted, “Now that we described these genomic events, hopefully, others will be able to detect them in their patients as well.” This breakthrough opens up new avenues for research and care, ultimately leading to better outcomes for brain tumor patients.

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