First Report of SPECC1L::ALK Fusion in Medullary Thyroid Carcinoma with Remarkable Response to Alectinib.

Fiche publication

Date publication

mai 2025

Journal

Thyroid : official journal of the American Thyroid Association

Auteurs

Membres identifiés du Cancéropôle Est :
Dr REITA Damien , Dr BENDER Laura

Tous les auteurs :
Bischoff H, Fattori A, Moinard-Butot F, Schneegans O, Diaz P, Reita D, Rimelen V, Voegeli AC, Bender L

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40376737

Résumé

Rearrangements of the gene are rare in medullary thyroid carcinoma (MTC), with limited data on the efficacy of ALK inhibitors in this context. Novel fusions, such as SPECC1L::ALK, have not been extensively studied. We present a case of a 33-year-old woman with metastatic MTC, in whom molecular profiling using next-generation sequencing (Archer FusionPlex®) identified a SPECC1L::ALK gene fusion. Treatment with the ALK inhibitor alectinib was initiated at 600 mg twice daily. The patient demonstrated a dramatic partial to near-complete response after 6 days of treatment, as shown by positron emission tomography-computed tomography. At 6 weeks, a complete response was confirmed. Treatment was generally well tolerated, aside from grade 3 myalgia with elevated creatine phosphokinase, managed with temporary cessation and dose adjustment. As of the latest follow-up (8 months), the patient remains on alectinib with sustained complete response. This is the first report of a SPECC1L::ALK fusion in MTC. The dramatic response to alectinib highlights the importance of molecular profiling and suggests that ALK inhibitors may benefit patients with rare fusions in thyroid cancers.