Case report: Dramatic response to pralsetinib in an elderly patient with advanced RET-fusion positive papillary thyroid carcinoma

Autor: Margherita Nannini, Andrea Repaci, Gianluca Ricco, Manuela Ianni, Arber Golemi, Vincenzo Maiolo, Marco Ferrari, Filippo Natali, Elisa Lodi Rizzini, Fabio Monari, Erica Solaroli, Antonio De Leo, Thais Maloberti, Maria A. Pantaleo, Dario De Biase, Giovanni Tallini
Přispěvatelé: Margherita Nannini, Andrea Repaci, Gianluca Ricco, Manuela Ianni, Arber Golemi, Vincenzo Maiolo, Marco Ferrari, Filippo Natali, Elisa Lodi Rizzini, Fabio Monari, Erica Solaroli, Antonio De Leo, Thais Maloberti, Maria A Pantaleo, Dario De Biase, Giovanni Tallini
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Frontiers in Oncology. 12
ISSN: 2234-943X
DOI: 10.3389/fonc.2022.1042525
Popis: We are recently faced with a progressive evolution of the therapeutic paradigm for radioiodine refractory differentiated thyroid cancer (RAI-R DTC), since the advent of tissue agnostic inhibitors. Thus, tumor genotype assessment is always more relevant and is playing a crucial role into clinical practice. We report the case of an elderly patient with advanced papillary thyroid carcinoma (PTC) harboring RET-CCDC6 fusion with four co-occurring mutations involving PI3KCA, TP53, and hTERT mutations, treated with pralsetinib under a compassionate use program. Despite the high histological grade and the coexistence of aggressive RET co-mutations, an impressive metabolic and structural tumor response has been obtained, together with a patient’s prolonged clinical benefit. A timely comprehensive molecular testing of those cases wild-type for the common thyroid carcinoma BRAF V600E-like and RAS-like driver mutations may uncover actionable gene rearrangements that can be targeted by highly selective inhibitors with great potential benefit for the patients.
Databáze: OpenAIRE