Nannini Margherita, Repaci Andrea, Ricco Gianluca, Ianni Manuela, Golemi Arber, Maiolo Vincenzo, Ferrari Marco, Natali Filippo, Rizzini Elisa Lodi, Monari Fabio, Solaroli Erica, De Leo Antonio, Maloberti Thais, Pantaleo Maria A, De Biase Dario, Tallini Giovanni
Oncology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Department of Experimental, Diagnostic and Specialty Medicine, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Front Oncol. 2022 Dec 12;12:1042525. doi: 10.3389/fonc.2022.1042525. eCollection 2022.
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 fusion with four co-occurring mutations involving , , and 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 V600E-like and -like driver mutations may uncover actionable gene rearrangements that can be targeted by highly selective inhibitors with great potential benefit for the patients.
自从组织非特异性抑制剂出现以来，我们最近面临着放射性碘难治性分化型甲状腺癌（RAI-R DTC）治疗模式的逐步演变。因此，肿瘤基因型评估变得越来越重要，并在临床实践中发挥着关键作用。我们报告了一例老年晚期乳头状甲状腺癌（PTC）患者的病例，该患者存在 融合以及涉及 、 和 突变的四种同时发生的突变，在同情用药计划下接受普拉替尼治疗。尽管组织学分级高且存在侵袭性RET共突变，但仍获得了令人印象深刻的代谢和结构肿瘤反应，以及患者的长期临床获益。对于常见甲状腺癌 V600E样和 样驱动突变野生型的病例，及时进行全面的分子检测可能会发现可操作的基因重排，这些重排可被高度选择性抑制剂靶向，对患者具有巨大的潜在益处。
