ECE2024 Poster Presentations Thyroid (58 abstracts)
ALK fusion genes in a large cohort of thyroid carcinomas
Barbora Bulanova 1 , Vlasta Kuklikova 1 , Karolina Mastnikova 1 , Eliska Vaclavikova 1 , Jitka Carkova 1 , Petr Vlcek 2 , Petr Lastuvka 2 , Rami Katra 2 , Petr Bavor 2 , Daniela Kodetova 2 , Martin Chovanec 3 , Jana Drozenova 3 , Jaromir Astl 4 , Jiri Soukup 4 , Josef Vcelak 1 & Bela Bendlova 1
1Institute of Endocrinology, Prague, Czech Republic; 2Motol University Hospital, Prague, Czech Republic; 3University Hospital Kralovske Vinohrady, Prague, Czech Republic; 4Military University Hospital, Prague, Czech Republic
Objectives: ALK fusion genes are a rare genetic alteration and have been described in various t types of thyroid carcinomas, particularly in papillary thyroid carcinomas (PTCs), poorly differentiated thyroid carcinomas (PDTCs) and anaplastic thyroid carcinomas (ATCs). The aim of this study was to identify ALK fusion genes in thyroid carcinoma samples, correlate them with clinical and histopathological features, and determine the prognostic significance of ALK fusion genes based on long-term follow-up of patients.
Methods: The cohort consisted of 1221 fresh frozen thyroid carcinomas, including 1051 PTCs, 11 PDTCs and 17 ATCs. The samples were sorted based on the mutation detected. Samples positive for BRAF, HRAS, KRAS, NRAS or RET mutations or RET/NTRK fusion genes were excluded from further analysis of the ALK fusion gene. Samples were analyzed for the presence of ALK fusion genes using the FusionPlex Comprehensive Thyroid and Lung panel (Invitae) by next-generation sequencing (MiSeq, Illumina).
Results: ALK fusion genes were detected in 13/1051 (1.2%) of PTCs. The mean age of patients at diagnosis was 23.7 ± 14.7 years, and 7/13 patients with ALK fusion-positive PTC were of childhood or adolescent age (2-20 years). Three types of ALK fusions were found, including the following partner genes: STRN, EML4 and FMNL2. STRN/ALK was identified in ten cases, EML4/ALK in two cases and FMNL2/ALK in one case. All ALK fusion-positive samples had no other mutation, and even none of the samples had a TERT or TP53 mutation. The majority (10/13; 76.9%) of PTCs with a positive ALK fusion gene were of the follicular subtype. Lymph node metastases were found in 7/13 (53.8%) patients and distant metastases were found in 1/13 (7.7%) patients. Radioiodine treatment was indicated in 10/13 patients. In the first two years after surgery, 4/11 patients had a structural incomplete response to treatment due to local or distant metastases. In 3/4 patients, radioiodine treatment eliminated the metastases. In 1/4 patients, a reoperation was necessary. Current response to treatment in all 11 evaluable patients is excellent.
Conclusion: In summary, ALK fusion genes were identified only in PTCs and occurred in pediatric and adolescent patients rather than in adult patients. The most common type was the STRN/ALK fusion gene. The prognosis of patients with ALK fusion-positive PTC was favorable. Genetic molecular testing of ALK fusions is important for patient’s diagnosis, prognosis and also for possible targeted therapy. Supported by AZV NU21-01-00448 and MH CZ RVO 00023761.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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