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1.
Endocr Relat Cancer ; 30(12)2023 12 01.
Article in English | MEDLINE | ID: mdl-37882481

ABSTRACT

Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes. The importance of characterizing RET fusion-positive tumors has recently increased due to the possibility of targeted treatment. The aim of this study was to identify RET fusion-positive thyroid tumors, correlate them with clinicopathological features, compare them with other mutated carcinomas, and evaluate long-term follow-up of patients. The cohort consisted of 1564 different thyroid tissue samples (including 1164 thyroid carcinoma samples) from pediatric and adult patients. Samples were analyzed for known driver mutations occurring in thyroid cancer. Negative samples were subjected to extensive RET fusion gene analyses using next-generation sequencing and real-time PCR. RET fusion genes were not detected in any low-risk neoplasm or benign thyroid tissue and were detected only in papillary thyroid carcinomas (PTCs), in 113/993 (11.4%) patients, three times more frequently in pediatric and adolescent patients (29.8%) than in adult patients (8.7%). A total of 20 types of RET fusions were identified. RET fusion-positive carcinomas were associated with aggressive tumor behavior, including high rates of lymph node (75.2%) and distant metastases (18.6%), significantly higher than in NTRK fusion, BRAF V600E and RAS-positive carcinomas. Local and distant metastases were also frequently found in patients with microcarcinomas positive for the RET fusions. 'True recurrences' occurred rarely (2.4%) and only in adult patients. The 2-, 5-, 10-year disease-specific survival rates were 99%, 96%, and 95%, respectively. RET fusion-positive carcinomas were associated with high invasiveness and metastatic activity, but probably due to intensive treatment with low patient mortality.


Subject(s)
Carcinoma , Thyroid Neoplasms , Adolescent , Humans , Adult , Child , Proto-Oncogene Proteins B-raf/genetics , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology , Thyroid Cancer, Papillary , Mutation , Prognosis , Proto-Oncogene Proteins c-ret/genetics
2.
World Neurosurg ; 173: 65-78, 2023 May.
Article in English | MEDLINE | ID: mdl-36803686

ABSTRACT

BACKGROUND: Chronic neck or back pain is a common clinical problem. The most likely cause is degenerative change, whereas other causes are relatively rare. There is increasing evidence on using hybrid single-photon emission computed tomography (SPECT) to identify the pain generator in spine degeneration. This systematic review explores the diagnostic and therapeutic evidence on chronic neck or back pain examined by SPECT. METHODS: This review is reported in accordance with the PRISMA guidelines. In October 2022, we searched the following sources: MEDLINE, Embase, CINAHL, SCOPUS, and 3 other sources. Titles and abstracts were screened and classified into diagnostic studies, facet block studies, and surgical studies. We synthesized the results narratively. RESULTS: The search yielded 2347 records. We identified 10 diagnostic studies comparing SPECT or SPECT/computed tomography (CT) with magnetic resonance imaging, CT, scintigraphy, or clinical examination. Furthermore, we found 8 studies comparing the effect of facet block intervention in SPECT-positive and SPECT-negative patients with cervicogenic headache, neck pain, and lower back pain. Five surgical studies describing the effect of fusion for facet arthropathy in the craniocervical junction, subaxial cervical spine, or the lumbar spine were identified. CONCLUSIONS: According to the available literature, a positive finding on SPECT in facet arthropathy is associated with a significantly higher facet blockade effect. Surgical treatment of positive findings has a good effect, but this has not been confirmed by controlled studies. SPECT/CT might therefore be a useful method in the evaluation of patients with neck or back pain, especially in cases of unclear findings or multiple degenerative changes.


Subject(s)
Intervertebral Disc Degeneration , Joint Diseases , Humans , Back Pain/diagnostic imaging , Back Pain/etiology , Tomography, Emission-Computed, Single-Photon/methods , Neck Pain/etiology , Neck Pain/complications , Intervertebral Disc Degeneration/complications , Intervertebral Disc Degeneration/diagnostic imaging , Intervertebral Disc Degeneration/surgery , Lumbar Vertebrae/surgery
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