(Press-News.org)
BOSTON, July 24, 2025 – The diagnosis of a suspected lung, head, and neck cancer called NUT carcinoma should include additional testing capable of detecting gene fusions that are definitive markers of the disease, according to a study by Dana-Farber Cancer Institute investigators. The study showed that more than 75 percent of patients with NUT carcinoma may not be immediately diagnosed because standard-of-care DNA testing does not detect NUT carcinoma fusion genes.
Tests that can identify gene fusions that are specific to NUT carcinoma include NUT immunohistochemistry (IHC), RNA fusion testing, and NUTM1 FISH (fluorescence in situ hybridization).
The findings were published in Clinical Cancer Research.
“If a diagnosis of NUT carcinoma is being considered, standard of care DNA-based testing is insufficient and clinicians should consult with pathology colleagues about ordering a better gold standard test such as NUT immunohistochemistry or RNA-based mutation sequencing,” says co-senior author Dr. Jia Luo, a thoracic oncologist at the Lowe Center for Thoracic Oncology at Dana-Farber. “Early accurate diagnosis is key to getting patients on the correct treatment and clinical trials.”
NUT carcinoma is an aggressive squamous cell cancer. A patient might be suspected of having NUT carcinoma if they are young, have little to no history of smoking, and have a poorly differentiated cancer in the lungs, head, or neck. Median survival for patients with NUT carcinoma is 6.7 months.
NUT carcinoma is defined by fusions of the NUTM1 gene with other genes. Gene fusions occur when errors in the genome glue two genes together, resulting in the production of a malfunctioning protein.
Luo and co-senior author Christopher French, MD, of Brigham and Women’s Hospital, initiated the study to determine the best means of detecting these gene fusions and definitively diagnosing NUT carcinoma. They examined the diagnostic results of 116 NUT carcinoma tumors that had undergone molecular testing using a range of panel tests including next-generation DNA sequencing, circulating tumor DNA (ctDNA) testing, and tests that identify gene fusions.
They found that DNA sequencing and ctDNA testing detected NUT fusions less than 25 percent of the time. In contrast, NUT IHC, RNA fusion testing, and NUTM1 FISH testing detected NUT carcinoma fusions much more reliably, respectively 100 percent, 84 percent, and 92 percent of the time.
“These findings warrant immediate change to the diagnostic workflow for patients with suspected NUT carcinoma,” says Luo.
This approach of performing DNA testing and RNA fusion testing simultaneously is used in other cancers in which the identification of gene fusion is needed to make a diagnosis.
The study also took an inventory of other mutations detected by the tests in the NUT carcinoma cases. More than half of the cases did not contain a second cancer-associated gene mutation, but some did.
Those that did contain additional gene mutations turned out to be genes associated with epigenetic, cell cycle and DNA repair pathways. Luo and colleagues are initiating laboratory studies to determine if targeting these mutations could benefit patients.
“This study characterized the common mutations seen in NUT carcinoma, which will help researchers develop future effective combination treatments,” says Luo.
Funding: National Institutes of Health, Dana-Farber/Harvard Cancer Center Lung Spore Career Enhancement Program, American-Italian Cancer Foundation Post-Doctoral Research Fellowship, Lowe Center for Thoracic Oncology, Friends of Jay Dion, the Ryan Richards Foundation, McDevitt Strong, the Max Vincze Foundation, the Victor Family Foundation, the Fortisure Foundation for NUT Carcinoma Research, and the Alexandra Hallock Memorial Fund.
About Dana-Farber Cancer Institute
Dana-Farber Cancer Institute is one of the world’s leading centers of cancer research and treatment. Dana-Farber’s mission is to reduce the burden of cancer through scientific inquiry, clinical care, education, community engagement, and advocacy. We provide the latest treatments in cancer for adults through Dana-Farber Brigham Cancer Center and for children through Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dana-Farber is the only hospital nationwide with a top 5 U.S. News & World Report Best Cancer Hospital ranking in both adult and pediatric care.
As a global leader in oncology, Dana-Farber is dedicated to a unique and equal balance between cancer research and care, translating the results of discovery into new treatments for patients locally and around the world, offering more than 1,100 clinical trials.
END
Superconductivity is a unique state of matter in which electric current flows without any energy loss. In materials with defects, it typically emerges at very low temperatures and develops in several stages. An international team of scientists, including physicists from HSE MIEM, has demonstrated that when defects within a material are arranged in a specific pattern rather than randomly, superconductivity can occur at a higher temperature and extend throughout the entire material. This discovery could help develop ...
NEW YORK and SEATTLE – JULY 24, 2025 — BASILISK, the global esports organization built to champion science, debuted two historic partnerships at the Esports World Cup 2025 in Riyadh, Saudi Arabia this week – furthering its mission to elevate science advocacy through the global reach and cultural influence of competitive gaming.
BASILISK’s new strategic partnerships with the California Institute of Technology’s Institute for Quantum Information and Matter (IQIM) and The Planetary Society create a powerful bridge between renowned scientific institutions and the next generation of STEM enthusiasts.
“To root for BASILISK is ...
An international research team led by Assistant Professor Zhiyu Wan from ShanghaiTech University has recently published groundbreaking findings in the journal Health Data Science, highlighting biases in multimodal large language models (LLMs) such as ChatGPT-4 and LLaVA in diagnosing skin diseases from medical images. The study systematically evaluated these AI models across different sex and age groups.
Utilizing approximately 10,000 dermatoscopic images, the study focused on three common skin diseases: melanoma, melanocytic nevi, and benign keratosis-like lesions. ...
Using the Atacama Large Millimeter/submillimeter Array (ALMA), a team of astronomers led by Abubakar Fadul from the Max Planck Institute for Astronomy (MPIA) has discovered complex organic molecules – including the first tentative detection of ethylene glycol and glycolonitrile – in the protoplanetary disc of the outbursting protostar V883 Orionis. These compounds are considered precursors to the building blocks of life. Comparing different cosmic environments reveals that the abundance and complexity of such molecules increase from star-forming regions to fully evolved planetary systems. This suggests that the seeds of life are assembled in space and are widespread. The ...
Researchers from Japan Agency for Marine-Earth Science and Technology (JAMSTEC) have discovered a deep-sea limpet species 5,922 metres beneath the northwestern Pacific Ocean, marking the deepest known habitat for any true limpet (subclass Patellogastropoda).
Described as a new species in the open-access journal Zoosystematics and Evolution, the limpet was found on hard volcanic rock 500 kilometres southeast of Tokyo, Japan. The gastropod measures up to 40.5 mm in shell length, a remarkably large size for a true limpet from ...
UNDER STRICT EMBARGO UNTIL 4PM (UK TIME) 11 AM (US EASTERN TIME) ON THURSDAY 24 JULY 2025
When should preventive mastectomy be offered for women at higher risk of breast cancer
Peer reviewed | Simulation/ modelling
More women at higher risk of breast cancer should be offered a mastectomy, according to researchers at Queen Mary and London School of Hygiene and Tropical Medicine. A new analysis has found that the surgical technique was a cost-effective way of reducing the likelihood of developing breast cancer compared to breast screening ...
New research from investigators at Mass General Brigham suggests that a commonly used type 2 diabetes medication is linked to a higher rate of heart-related conditions compared to medications that hit other targets. The study examined nationwide data from nearly 50,000 patients treated with different sulfonylureas and found that glipizide – the most widely used drug in the U.S. within this category – was linked to higher incidence of heart failure, related hospitalization and death compared to dipeptidyl peptidase-4 (DPP-4) inhibitors. ...
Cancer cells and tumors do not exist in a vacuum. Far from the isolation and self-sufficiency of the fictional Wakanda, tumors develop in and alter the nearby milieu of immune cells, connective tissue, blood vessels and a sea of proteins and carbohydrates that provide structure and other supportive functions.
Cancer cells interact with this neighborhood — which scientists term the tumor microenvironment — in many ways, including obtaining extra resources needed to fuel their unchecked growth. Like a fishing trawler deploying its net, pancreatic ductal adenocarcinoma (PDAC) ...
About The Study: Among men with traditional Medicare, this study examined racial differences in 2 important measures of prostate cancer care quality that have contrasting relationships with utilization. Black men had lower odds of confirmatory testing among those on active surveillance, where utilization and quality are tightly aligned, indicating worse care. Conversely, Black men had lower odds of overtreatment, where utilization and quality are misaligned, suggesting better care in this dimension.
Corresponding Author: To contact the corresponding author, Arnav Srivastava, MD, MPH, MS, email srivasar@med.umich.edu.
To access ...
About The Study: In this economic evaluation, undergoing risk-reducing mastectomy (RRM) appears cost-effective for women ages 30 to 55 with a lifetime breast cancer risk of 35% or higher. These results could have significant clinical implications to expand access to RRM beyond BRCA1/BRCA2/PALB2 pathogenic variant carriers. Future studies evaluating the acceptability, uptake, and long-term outcomes of RRM among these women are warranted.
Corresponding Author: To contact the corresponding author, Ranjit Manchanda, MD, PhD, email r.manchanda@qmul.ac.uk.
To access the embargoed study: Visit our For The ...
