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AACR 2026: Cancers of Unknown Primary Identified by DNA Methylation AI Model

Published

2 months ago

April 20, 2026

SAN DIEGO – Researchers from Kindai University in Japan have developed a machine learning model that accurately predicts the origin of diverse cancer types in patients with cancers of unknown primary (CUP) by analyzing CpG-based DNA methylation. Results showed that the model correctly identified the cancer type in about 95% of cases in the test cohort, and achieved 87% accuracy when applied to an independent validation cohort from 31 cases representing 17 different cancer types. The work was presented at the American Association for Cancer Research (AACR) Annual Meeting.

“Our findings suggest that DNA-based approaches can help identify where a cancer may have started, even when the original tumor is not visible,” said Marco A. De Velasco, PhD, a faculty member in the department of genome biology at Kindai University in Japan.

CUP are metastatic malignancies in which the primary cancer site could not be identified. These cancers are often associated with poorer outcomes, as patients are typically treated with broad, nonspecific chemotherapy regimens rather than therapies targeted to a specific cancer type.

Approximately only 15-20% of patients with CUP show features that allow site-specific therapies. Patients receiving site-directed therapy can survive up to 24 months, compared with six to nine months for those receiving standard treatment.

Patterns in tumor biology, such as gene activity or chemical modifications to DNA, can differ between cancer types and persist even after the cancer has spread and guide development of these therapies. While some methods have shown promise, they have yet to demonstrate clear survival benefits in clinical trials.

The model was developed using methylation data from nearly 7,500 patients with 21 different cancer types obtained from The Cancer Genome Atlas Program and other public datasets. Using machine learning, the researchers identified CpG methylation and built methylation profiles that were associated with different tumor types.

Del Velasco emphasized that the study achieved high accuracy in predicting the origin of diverse cancer types using a small subset of DNA markers, about 1,000 CpG regions selected from hundreds of thousands across the genome. “This is important because it shows that we can simplify complex molecular data while still maintaining strong predictive performance,” he said.

As a limitation, the model was developed using cancers with known origins, rather than true CUP. Testing in CUP patients is important to understand how well the model performs in clinical settings. Additionally, not all tumors are easily accessible for genetic testing, particularly tumors in advanced stage. Looking ahead, the authors aim to adapt and evaluate the model using blood-based biopsy to analyze circulating tumor DNA instead of relying on DNA from tissue samples.

The post AACR 2026: Cancers of Unknown Primary Identified by DNA Methylation AI Model appeared first on GEN – Genetic Engineering and Biotechnology News.

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SonoThera Raises $125M to Develop Ultrasound-Mediated Genetic Medicines

Published

42 minutes ago

June 12, 2026

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Biotechnology company SonoThera has raised $125 million in an oversubscribed Series B financing round. The financing was led by Vida Ventures, with participation from ARK Invest, CureDuchenne Ventures, Leaps by Bayer, Otsuka Pharmaceutical, SymBiosis, UCB Ventures SA, Vivo Capital, and existing investors ARCH Venture Partners, Alexandria Venture Investments, Duquesne Family Office, Illumina Ventures, Johnson & Johnson Innovation – JJDC, Medical Excellence Capital, RA Capital, and Vertex Ventures HC.

SonoThera will use the funds to advance its lead programs in Duchenne muscular dystrophy (DMD) and autosomal dominant polycystic kidney disease (ADPKD) in the clinic. The funds will also support efforts to expand its pipeline of targeted redosable genetic medicines across multiple organ systems and scale its proprietary platform technologies for safe, targeted therapy delivery.

The company’s platform combines a proprietary ultrasound-mediated delivery technology dubbed RIPPLE, with a payload engineering platform dubbed PORE. The platforms are designed to support the development of DNA and RNA therapeutics, gene editing, and gene silencing approaches. SonoThera is using its tech to develop genetic medicines that it claims will address key limitations of conventional gene therapies including delivery challenges, payload size constraints, immune responses, safety events, and difficulties with redosing.

As Kenneth Greenberd, PhD, SonoThera’s co-founder and CEO, stated “we founded SonoThera to take a fundamentally different approach, with a platform designed to broaden the therapeutic possibilities of the field. We believe our technology has the potential to expand the range of diseases addressable by genetic medicines while enabling more precise, durable, safer, and repeatable therapies for patients.”

SonoThera has already demonstrated the targeted delivery and expression capabilities of its platform across multiple tissues, including skeletal muscle, heart, liver, kidney, adipose, and brain. It has also shown that it can deliver large payloads such as full-length dystrophin for DMD and RNA-based payloads for gene silencing applications in preclinical studies.

The company expects to initiate its first clinical trial in DMD in 2027.

Commenting on the financing, Rajul Jain, MD, managing director at Vida Ventures, said “we believe SonoThera, with its RIPPLE delivery and PORE payload engineering technologies, has the potential to unlock opportunities in diseases with significant unmet need that have been previously inaccessible to other genetic medicine approaches.”

In connection with the financing, Jain and Rakhshita Dhar, MS, vice president & head of Healthcare Venture Investments at Leaps by Bayer, have joined SonoThera’s Board of Directors.

The post SonoThera Raises $125M to Develop Ultrasound-Mediated Genetic Medicines appeared first on GEN – Genetic Engineering and Biotechnology News.

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STAT+: Up and down the ladder: The latest comings and goings

Hired someone new and exciting? Promoted a rising star? Finally solved that hard-to-fill spot? Share the news with us, and we’ll share it with others. That’s right. Send us your changes, and we’ll find a home for them. Don’t be shy. Everyone wants to know who is coming and going.

And here is our regular feature in which we highlight a different person each week. This time around, we note that AstronauTx hired Michelle Mellion as chief medical officer. Previously, she held the same role at PepGen and EveryONE Medicines.

But all work and no play can make for a dull chief medical officer.

Continue to STAT+ to read the full story…

Published

4 hours ago

June 12, 2026

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