Molecular Alterations in Relation to Histopathological Characteristics in a Large Series of Pediatric Papillary Thyroid Carcinoma from a Single Institution
| العنوان: | Molecular Alterations in Relation to Histopathological Characteristics in a Large Series of Pediatric Papillary Thyroid Carcinoma from a Single Institution |
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| المؤلفون: | Paola Vignali, Rossella Elisei, Agnese Proietti, Alessio Basolo, Clara Ugolini, Elisabetta Macerola, Fulvio Basolo, Liborio Torregrossa, Anello Marcello Poma, Ferruccio Santini, Gabriele Materazzi |
| المصدر: | Cancers, Vol 13, Iss 3123, p 3123 (2021) Cancers Volume 13 Issue 13 |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Neuroblastoma RAS viral oncogene homolog, Cancer Research, endocrine system diseases, Gene fusion, Gene mutation, Molecular pathology, Papillary thyroid carcinoma, Pediatric thyroid cancer, 030209 endocrinology & metabolism, pediatric thyroid cancer, medicine.disease_cause, Article, Fusion gene, Thyroid carcinoma, 03 medical and health sciences, 0302 clinical medicine, molecular pathology, medicine, gene mutation, Pathological, RC254-282, Mutation, business.industry, Point mutation, gene fusion, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, humanities, Oncology, 030220 oncology & carcinogenesis, Cancer research, papillary thyroid carcinoma, business |
| الوصف: | Papillary thyroid carcinoma (PTC) presents distinct clinico-pathological and molecular differences in children compared with adult patients. Whether the presence of rearrangements or point mutations is associated with aggressive PTC clinical presentation is still controversial. In this study, PTCs diagnosed in patients aged less than 18 years were retrospectively searched from the institutional archive and tumor tissue was tested for point mutations in BRAF and RAS genes and for rearrangements in RET, NTRK1, NTRK3, ALK, PPARG, BRAF and THADA. A total of 163 PTCs were analyzed. Point mutations were found in 83 (51%) and gene fusions in 48 cases (30%). The most frequent alteration was the BRAFV600E mutation (36.8%), followed by NTRK3 fusion (11%), NRAS mutation (10.4%) and RET fusion (10.4%). Fusion-driven PTCs showed more frequently infiltrative growth, larger tumors, extrathyroidal extension and N1b disease. PTCs showing solid growth pattern were significantly enriched in gene fusions. This is one of the largest cohorts of pediatric PTCs. Fusion-driven tumors most frequently show aggressive pathological features the search for rearrangements, especially in tumors with solid areas, could improve the characterization of pediatric PTCs and offer possible therapeutic options. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2072-6694 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624e9eaf50f614912f5d98688d70c8e4Test https://www.mdpi.com/2072-6694/13/13/3123Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....624e9eaf50f614912f5d98688d70c8e4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20726694 |
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