Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability. The bilateral uptake by dopamine transporters was nearly abolished, as determined by N-(3-[18F]fluoropropyl)- 2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography (18F-FP-CIT PET). Next-generation sequencing revealed a heterozygous c.1066_1069delTCTG (p.Ser356ArgfsTer56) frameshift variant and a heterozygous c.80G>A (p.Arg27His) missense variant of the FBXO7 gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of FBXO7 mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.

PURPOSE: The present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects. MATERIALS AND METHODS: The study population comprised healthy controls who underwent 123I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3′UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1–4 (SNCA-007). RESULTS: In total, 123 healthy subjects (male 75, female 48) were included in this study. DAT availability in the caudate nucleus (p=0.0661) and putamen (p=0.0739) tended to differ according to rs3910105 genotype. In post-hoc analysis, DAT availability in the putamen was lower in subjects of TT genotype than those of CC/CT (p=0.0317). DAT availability in the caudate nucleus also showed a trend similar to that in the putamen (p=0.0597). Subjects of CT genotype with rs3910105 showed negative correlations with DAT availability in the putamen with SNCA-E3E4 (p=0.037, rho=−0.277), and SNCA-E4E6 (p=0.042, rho=−0.270), but not those of CC/TT genotypes. CONCLUSION: This is the first study to investigate the association of rs3910105 in SNCA with DAT availability. rs3910105 had an effect on DAT availability, and the correlation between DAT availability and SNCA transcripts were significant in CT genotypes of rs3910105.
Biomarkers ; Caudate Nucleus ; Cerebrospinal Fluid ; Dopamine Plasma Membrane Transport Proteins* ; Dopamine* ; Exons ; Female ; Genotype ; Healthy Volunteers* ; Humans ; Mass Screening ; Polymorphism, Single Nucleotide ; Protein Isoforms ; Putamen ; Synucleins* ; Tomography, Emission-Computed

Background/Objectives: To evaluate clinical significance of FDG PET-CT for detection of residual cancer cells after curative radiation therapy or chemoradiotherapy for patients with squamous cell carcinoma (SCC) of Head and NeckMaterials & Methods: A retrospective analysis of patients with SCC of Head and neck with curative radiotherapy or chemoradiotherpy between June 2011 and Jan. 2019 was performed. Sixty patients were treated with Intensity-modulated radiotherapy (IMRT). The Metabolic responses were evaluated on the post-treatment FDG PET-CT at 12 weeks after curative radiotherapy completion. Results: Median follow up was 51.5 months (3-102). The overall survival (OS), disease free survival (DFS), local control rate (LCR), and Distant metastasis free survival (DMFS) at 5 years were 80.5%, 80.1%, 87.7% and 89.1%. Metabolic CR was found in 43 (71.7%) and partial metabolic response (PR) was noted in 17 (14.6%). Metabolic CR was significantly correlated with OS, DFS, LCR, and DMFS. On multivariate analysis, Metabolic CR remained significant for DFS and LCR. Conclusion Metabolic CR on post-radiotherapy FDG PET-CT is highly predictive of increased DFS and LCR in patients with head and neck cancer.

Background/Objectives: To evaluate clinical significance of FDG PET-CT for detection of residual cancer cells after curative radiation therapy or chemoradiotherapy for patients with squamous cell carcinoma (SCC) of Head and NeckMaterials & Methods: A retrospective analysis of patients with SCC of Head and neck with curative radiotherapy or chemoradiotherpy between June 2011 and Jan. 2019 was performed. Sixty patients were treated with Intensity-modulated radiotherapy (IMRT). The Metabolic responses were evaluated on the post-treatment FDG PET-CT at 12 weeks after curative radiotherapy completion. Results: Median follow up was 51.5 months (3-102). The overall survival (OS), disease free survival (DFS), local control rate (LCR), and Distant metastasis free survival (DMFS) at 5 years were 80.5%, 80.1%, 87.7% and 89.1%. Metabolic CR was found in 43 (71.7%) and partial metabolic response (PR) was noted in 17 (14.6%). Metabolic CR was significantly correlated with OS, DFS, LCR, and DMFS. On multivariate analysis, Metabolic CR remained significant for DFS and LCR. Conclusion Metabolic CR on post-radiotherapy FDG PET-CT is highly predictive of increased DFS and LCR in patients with head and neck cancer.

Purpose: The isocitrate dehydrogenase (IDH) family plays an essential role in metabolism and energy production. The relative expression levels of IDH isoforms (IDH1, IDH2, and IDH3) have prognostic significance in several malignancies, including breast carcinoma. However, the IDH isozyme expression levels in different cancer stages and types have not been determined in breast carcinoma tissues. Methods: We analyzed the messenger RNA (mRNA) and protein levels of IDH (IDH1, IDH2, and IDH3A) and α-ketoglutarate (α-KG) in 59 breast carcinoma tissues. Results: The mRNA level of IDH2 was significantly increased at stages 2 and 3 in triple-negative and (ER-/PR-/HER+) breast cancers. However, the elevated α-KG level was only observed in stages 2 and 3, with no differences in the various breast carcinoma types. Western blotting analysis showed that IDH2 protein expression increased in the patient tissues and cell lines. An in vitro study showed IDH2 downregulation in the triple-negative breast cancer cell line MDA-MB-231 that inhibited cell proliferation and migration and induced cell cycle arrest in the G0/G1 phase. Conclusion These findings suggest that different from IDH1 and IDH3, IDH2 is more highly expressed in stages 2 and 3 breast cancer tissues, especially in triple-negative breast cancer. IDH2 potentially serves as a target to detect unknown mechanisms in breast cancer.

Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies. This article summarizes the 2024 KTA guidelines for nuclear medicine imaging in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers 18 F-FDG PET/CT and radioiodine imaging with SPECT/CT in the management of DTC. 

Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies.This article summarizes the 2024 KTA guidelines for radioactive iodine (RAI) therapy in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers RAI therapy as initial management of DTC and RAI therapy in advanced thyroid cancer.

Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies. This article summarizes the 2024 KTA guidelines for nuclear medicine imaging in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers 18 F-FDG PET/CT and radioiodine imaging with SPECT/CT in the management of DTC. 

Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies.This article summarizes the 2024 KTA guidelines for radioactive iodine (RAI) therapy in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers RAI therapy as initial management of DTC and RAI therapy in advanced thyroid cancer.

Thyroid cancer, one of the most common endocrine tumors, generally has a favorable prognosis but remains a significant medical and societal concern due to its high incidence. Early diagnosis and treatment of differentiated thyroid cancer (DTC) significantly affect long-term outcomes, requiring the selection and application of appropriate initial treatments to improve prognosis and quality of life. Recent advances in technology and health information systems have enhanced our understanding of the molecular genetics of thyroid cancer, facilitating the identification of aggressive subgroups and enabling the accumulation of research on risk factors through big data. The Korean Thyroid Association (KTA) has revised the “KTA Guidelines on the Management of Differentiated Thyroid Cancers 2024” to incorporate these advances, which were developed by a multidisciplinary team and underwent extensive review and approval processes by various academic societies. This article summarizes the 2024 KTA guidelines for nuclear medicine imaging in patients with DTC, written by the Nuclear Medicine members of the KTA Guideline Committee, and covers 18 F-FDG PET/CT and radioiodine imaging with SPECT/CT in the management of DTC.