Project title: Define the mechanisms and the impact of potential critical somatic gene mutations in DIPNECH
Hui Yu, MD, PhD University of Colorado
- Status: Active
- Year(s): 2025
- Grant Type: Mentored
- Research Type: Basic
- Primary Tumor Site: Lung
- Area of Inquiry: Uncovering the molecular and genetic basis of NETs
What critical NET problem/question will researchers try to answer?
Our study aims to explore the underlying molecular mechanisms of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH), a rare disease with premalignant lesions involving the small airways of the lung that can compromise respiratory function and often progress to carcinoid tumors.
Why is this important?
The cause of DIPNECH is unknown. Over time, this condition can progress to lung NETs and cause severe breathing problems. Treatment options are limited, and even lung transplantation has disappointing survival rates.
What will the researchers do?
By studying DNA from patients, this team of researchers discovered several gene mutations, including NOTCH1, PABPC1, PABPC3, and MTOR, that may drive DIPNECH and its progression to lung NETs. These genes play key roles in regulating cell growth and survival, and their mutations may trigger harmful changes in gene activity. The team will study how these mutations change cell behavior and use advanced tools to identify drugs that can specifically target the abnormal pathways involved.
How might this improve the treatment of neuroendocrine cancer?
This research could reveal the root causes of DIPNECH, provide much-needed diagnostic markers, and pave the way for the first effective treatments to slow or stop this disease.
Additional Details
- City: Denver
- State: Colorado
- Country: United States
- Grant Duration: 2 years
- Sponsor: The Firsty Family and the extended Seltzer Family in memory of Julie Seltzer Firsty
DISCLAIMER
NETRF funds laboratory research to understand the development of neuroendocrine tumors and translational research to explore new concepts in treatment. Research grant descriptions and research updates from NETRF are not intended to serve as medical advice. It can take years for research discoveries to be fully validated and approved for patient care. Always consult your health care providers about your treatment options.