A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response
The response to nivolumab in a germline NF1-driven ARMM case seems independent from levels of TMB and PD-L1 expression and may be mediated by inflammatory response induced by M1-polarized macrophages.
Authors
- Luca Mastorino (ORCID: https://orcid.org/0000-0001-7386-3219)
- Sara E. Bellomo (ORCID: https://orcid.org/0000-0001-5738-2351)
- Simone Ribero (ORCID: https://orcid.org/0000-0002-0098-1406)
- Nicola Crosetto (ORCID: https://orcid.org/0000-0002-3019-6978)
- Eva Trevisson (ORCID: https://orcid.org/0000-0002-5380-6265)
- Enrico Berrino (ORCID: https://orcid.org/0000-0001-6728-5619)
- Rebecca Senetta (ORCID: https://orcid.org/0000-0001-8419-4591)
- Valeria Morbidoni (ORCID: https://orcid.org/0000-0002-0046-2032)
- Ivana Sarotto (ORCID: https://orcid.org/0000-0002-6958-5698)
- Caterina Marchiò (ORCID: https://orcid.org/0000-0003-2024-6131)
- Pietro Quaglino (ORCID: https://orcid.org/0000-0003-4185-9586)
- Anna Sapino (ORCID: https://orcid.org/0000-0003-3542-9571)
- Anita Chesta
- Avallone Gianluca
- Daniela Zampieri
Institutions
- University of Padua (IT)
- Human Technopole (IT)
- Candiolo Cancer Institute (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Città della Speranza Foundation (IT)
- University of Turin (IT)
Publication Details
- Journal
- Pathologica
- Published
- 2025-10-01
- DOI
- https://doi.org/10.32074/1591-951x-n1157
- Citations
- 1
- Primary Topic
- Melanoma and MAPK Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.81