Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms
Approximately 45% of patients with NENs harbor pathogenic germline variants on whole-exome sequencing. A subset of patients with gMUTYH alterations demonstrate a high tumor mutational burden, rich immune infiltration, and significant responses to ICI.
Authors
- Martha Yearsley (ORCID: https://orcid.org/0000-0003-0352-1277)
- Manisha H. Shah (ORCID: https://orcid.org/0000-0002-6453-2044)
- Bhavana Konda (ORCID: https://orcid.org/0000-0002-9099-5990)
- Komal Das
- Isaiah Boateng
- Pamela Brock (ORCID: https://orcid.org/0000-0002-1549-5363)
- Jill Buss
- Vineeth Sukrithan (ORCID: https://orcid.org/0000-0002-5878-9900)
- Sandya Liyanarachchi (ORCID: https://orcid.org/0000-0002-1857-5246)
- Anil Vasdev Parwani (ORCID: https://orcid.org/0000-0002-7616-1666)
- Ann‐Kathrin Eisfeld (ORCID: https://orcid.org/0000-0001-6442-1419)
- Prachi Jain (ORCID: https://orcid.org/0000-0003-3656-4847)
Institutions
- The Ohio State University (US)
Publication Details
- Journal
- Journal of the National Comprehensive Cancer Network
- Published
- 2025-06-30
- DOI
- https://doi.org/10.6004/jnccn.2025.7035
- Primary Topic
- Neuroendocrine Tumor Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00