A new study from Dana-Farber Cancer Institute finds that patients with NUT carcinoma (NC), an aggressive squamous cell lung or head and neck cancer, often face delays in diagnosis—delays that can prevent them from receiving the right treatment or joining clinical trials. The findings highlight the urgent need for greater awareness and faster recognition of this disease.
“Time is everything in NUT carcinoma,” said Dr. Jia Luo, thoracic oncologist at Dana-Farber and senior author of the study. “Earlier recognition means better treatment choices, and the chance for more patients to access specialized clinical trials.”
The findings were published in JCO Precision Oncology.
Jia Luo, MD
Investigators analyzed 132 patients from the NUT Carcinoma Registry seen in the U.S. and found that the vast majority presented with thoracic or head and neck tumors, and all cases were confirmed as NUT-positive by immunohistochemistry (IHC) testing. Nearly 80-percent of cases were initially not diagnosed as NUT carcinoma, about one-in-five patients received ineffective treatment before a correct diagnosis, and the average time from biopsy to confirmation was 7 weeks—with some patients waiting more than a year.
NUT carcinoma affects roughly 1,400 people in the United States each year and has a median survival of less than seven months. The disease is often missed because standard DNA-based testing fails to detect most cases, and its appearance under the microscope can resemble other cancers and lead to premature diagnostic closure. Historically, many patients have initially been misdiagnosed with garden variety non-small cell lung cancer, garden variety squamous head and neck cancer, neuroendocrine carcinoma, or sarcoma, delaying effective care.
The study emphasizes that NUT carcinoma should be classified and treated as a squamous cancer. A prompt and accurate diagnosis not only helps patients receive the most appropriate therapies but also gives them a greater chance to enroll in clinical trials designed specifically for this disease.
“When patients present with a poorly differentiated/squamous lung or head and neck origin cancer, clinicians and pathologists should consider asking whether a NUT IHC test should be performed, particularly in young and patients with a low pack-year/ never smoking history,” said Luo.
Currently, there are no FDA-approved treatments for the disease, but several investigator-initiated clinical trials are underway.