In a groundbreaking study, researchers from Yale School of Medicine have made significant strides in understanding the genetic landscape of neuroendocrine tumors of the cervix (NETc) to potentially improve treatments for this rare and aggressive disease.
NETc is a rare form of cancer with a grim prognosis, as the average survival rate for patients diagnosed with NETc is less than two years. To shed light on potential treatments, the research team, in collaboration with international partners, conducted a comprehensive analysis of 66 cervical NET tumors, marking the largest series ever reported in scientific literature.
Utilizing advanced techniques such as whole-exome and RNA-Seq analysis, the scientists sequenced all the genes from the tumors to pinpoint mutations that are vital for tumor growth and resistance to cancer therapies. The findings of the study unveiled novel genes and pathways that could pave the way for precision medicine approaches in treating NETc patients.
The study, published in the Proceedings of the National Academy of Sciences, highlighted the potential for existing targeted therapies to benefit a significant subset of NETc patients. This discovery challenges the current practice of treating NETc with conventional chemotherapy regimens designed for lung cancer patients.
Dr. Alessandro Santin, the senior author of the study and co-chief of the division of gynecologic oncology at Yale Cancer Center, emphasized the importance of the genetic data in guiding the development of innovative therapies. He suggested that combining common chemotherapy regimens with immunotherapies could offer a more effective treatment strategy for NETc patients.
Through sequencing tumor genes from 64 NETc patients, including cases with a mix of adenocarcinoma cells, the researchers identified crucial mutations essential for tumor progression and survival. By studying patient-derived xenografts (PDX) in mice, where cancer cells from patients were implanted, the team uncovered amplified genes that provided the tumors with a growth advantage over normal tissues.
Stefania Bellone, the first author of the study and associate research scientist at Yale School of Medicine, highlighted the groundbreaking nature of identifying tumors with both adenocarcinoma and neuroendocrine elements for the first time, underscoring the potential impact of this research on advancing personalized treatment options for NETc patients.
