Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family

Head and neck paragangliomas are the most common clinical features of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation. The clinical management of this syndrome is still unclear. In this study we propose a diagnostic algorithm for SDHD mutation carriers based on our family case series and literature review. After genetic diagnosis, first evaluation should include biochemical examination and whole-body imaging. In case of lesion detection, nuclear medicine examination is required for staging and tumor characterization. The study summarizes the diagnostic accuracy of different functional imaging techniques in SDHD mutation carriers. 18F-3,4-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)-computed tomography (CT) is considered the gold standard. If it is not available, 123I-Metaiodobenzylguanidine (MIBG) could be used also for predicting response to radiometabolic therapy. 18F-fluoro-2-deoxy-D-glucose (18F-FDG) PET-CT has a prognostic role since high uptake identifies more aggressive cases. Finally, 68Ga-peptides PET-CT is a promising diagnostic technique, demonstrating the best diagnostic accuracy in our and in other published case series, even if this finding still needs to be confirmed in larger studies. Periodic follow-up should consist of annual biochemical and ultrasonographic screening and biannual magnetic resonance examination to identify biochemical silent tumors early.

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PET/CT

Nuklearmedizin ◽

10.1055/s-0038-1625216 ◽

2005 ◽

Vol 44 (S 01) ◽

pp. S51-S57 ◽

Cited By ~ 12

Author(s):

T. Beyer ◽

G. Brix

Keyword(s):

Diagnostic Accuracy ◽

Radiation Exposure ◽

Dose Reduction ◽

Pet Imaging ◽

Clinical Studies ◽

Review Article ◽

Whole Body ◽

High Radiation ◽

Radiation Burden ◽

Pet Ct

Summary:Clinical studies demonstrate a gain in diagnostic accuracy by employing combined PET/CT instead of separate CT and PET imaging. However, whole-body PET/CT examinations result in a comparatively high radiation burden to patients and thus require a proper justification and optimization to avoid repeated exposure or over-exposure of patients. This review article summarizes relevant data concerning radiation exposure of patients resulting from the different components of a combined PET/CT examination and presents different imaging strategies that can help to balance the diagnostic needs and the radiation protection requirements. In addition various dose reduction measures are discussed, some of which can be adopted from CT practice, while others mandate modifications to the existing hardand software of PET/CT systems.

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Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01933-y ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Ya-Bing Wang ◽

Ou Wang ◽

Min Nie ◽

Yan Jiang ◽

Mei Li ◽

...

Keyword(s):

Case Series ◽

Pure Red Cell Aplasia ◽

Hereditary Disease ◽

Chinese Patients ◽

Chronic Mucocutaneous Candidiasis ◽

Syndrome Type ◽

Myeloproliferative Disease ◽

College Hospital ◽

Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Results In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1. Conclusion We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.

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Potential of Radiolabeled PSMA PET/CT or PET/MRI Diagnostic Procedures in Gliomas/Glioblastomas

Current Radiopharmaceuticals ◽

10.2174/1874471012666191017093721 ◽

2020 ◽

Vol 13 (2) ◽

pp. 94-98 ◽

Cited By ~ 3

Author(s):

Francesco Bertagna ◽

Domenico Albano ◽

Elisabetta Cerudelli ◽

Maria Gazzilli ◽

Raffaele Giubbini ◽

...

Keyword(s):

Case Reports ◽

Case Series ◽

Whole Body ◽

Cochrane Library ◽

Whole Body Imaging ◽

Mri Imaging ◽

Psma Pet ◽

Pet Ct ◽

Diagnostic Role

Background: Radiolabeled prostate-specific membrane antigen PSMA-based PET/CT or PET/MRI is a whole-body imaging technique currently performed for the detection of prostate cancer lesions. PSMA has been also demonstrated to be expressed by the neovasculature of many other solid tumors. Objective: The aim of this review is to evaluate the possible diagnostic role of radiolabeled PSMA PET/CT or PET/MRI in patients with gliomas and glioblastomas, by summarizing the available literature data. Methods: A comprehensive literature search of the PubMed/MEDLINE, Scopus, Embase and Cochrane library databases was conducted to find relevant published articles about the diagnostic performance of radiolabeled PSMA binding agents in PET/CT or PET/MRI imaging of patients with suspected gliomas or glioblastomas. Results: Seven case reports or case series and 3 studies enrolling more than 10 patients showed that gliomas and glioblastoma are PSMA-avid tumors. Conclusion: Radiolabeled PSMA imaging seems to be useful in analyzing glioma/glioblastoma. Further studies enrolling a wider population are needed to clarify the real clinical and diagnostic role of radiolabeled PSMA in this setting and its possible position in the diagnostic flow-chart.

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Changes in regional cerebral blood flow in the thalamus after electroconvulsive therapy for patients with complex regional pain syndrome type 1 (preliminary case series)

Regional Anesthesia and Pain Medicine ◽

10.1053/rapm.2002.34330 ◽

2002 ◽

Vol 27 (5) ◽

pp. 529-532 ◽

Cited By ~ 1

Author(s):

S FUKUI ◽

S SHIGEMORI ◽

S NOSAKA

Keyword(s):

Blood Flow ◽

Cerebral Blood Flow ◽

Complex Regional Pain Syndrome ◽

Electroconvulsive Therapy ◽

Regional Cerebral Blood Flow ◽

Case Series ◽

Pain Syndrome ◽

Syndrome Type ◽

Regional Cerebral Blood

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W-Net for Whole-Body Bone Lesion Detection on $$^{68}$$ Ga-Pentixafor PET/CT Imaging of Multiple Myeloma Patients

Lecture Notes in Computer Science - Molecular Imaging, Reconstruction and Analysis of Moving Body Organs, and Stroke Imaging and Treatment ◽

10.1007/978-3-319-67564-0_3 ◽

2017 ◽

pp. 23-30 ◽

Cited By ~ 2

Author(s):

Lina Xu ◽

Giles Tetteh ◽

Mona Mustafa ◽

Jana Lipkova ◽

Yu Zhao ◽

...

Keyword(s):

Multiple Myeloma ◽

Bone Lesion ◽

Ct Imaging ◽

Lesion Detection ◽

Whole Body ◽

Pet Ct ◽

Body Bone

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68Ga-PSMA-PET/CT in comparison with 18F-fluoride-PET/CT and whole-body MRI for the detection of bone metastases in patients with prostate cancer: a prospective diagnostic accuracy study

European Radiology ◽

10.1007/s00330-018-5682-x ◽

2018 ◽

Vol 29 (3) ◽

pp. 1221-1230 ◽

Cited By ~ 23

Author(s):

Eva Dyrberg ◽

Helle W. Hendel ◽

Tri Hien Viet Huynh ◽

Tobias Wirenfeldt Klausen ◽

Vibeke B. Løgager ◽

...

Keyword(s):

Prostate Cancer ◽

Diagnostic Accuracy ◽

Bone Metastases ◽

Whole Body ◽

Diagnostic Accuracy Study ◽

Whole Body Mri ◽

Psma Pet ◽

Pet Ct ◽

Accuracy Study ◽

18F Fluoride

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Changes in Regional Cerebral Blood Flow in the Thalamus After Electroconvulsive Therapy for Patients with Complex Regional Pain Syndrome Type 1 (Preliminary Case Series)

Regional Anesthesia and Pain Medicine ◽

10.1097/00115550-200209000-00018 ◽

2002 ◽

Vol 27 (5) ◽

pp. 529-532 ◽

Cited By ~ 14

Author(s):

Sei Fukui ◽

Shino Shigemori ◽

Shuichi Nosaka

Keyword(s):

Blood Flow ◽

Cerebral Blood Flow ◽

Complex Regional Pain Syndrome ◽

Electroconvulsive Therapy ◽

Regional Cerebral Blood Flow ◽

Case Series ◽

Pain Syndrome ◽

Syndrome Type ◽

Regional Cerebral Blood

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Detection of metastases in breast cancer: Is whole body PET/MR better than PET/CT?

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.26_suppl.15 ◽

2014 ◽

Vol 32 (26_suppl) ◽

pp. 15-15

Author(s):

Eleonora Teplinsky ◽

Akshat Pujara ◽

Francisco J. Esteva ◽

Linda Moy ◽

Amy Melsaether ◽

...

Keyword(s):

Breast Cancer ◽

Treatment Response ◽

Metastatic Lesion ◽

Lesion Detection ◽

Whole Body ◽

Reference Standard ◽

Therapeutic Implications ◽

Metastatic Setting ◽

Pet Ct ◽

Pathology Reports

15 Background: Whole body PET/CT is commonly utilized in breast cancer (BC) patients (pts). Limitations include assessment of treatment response in bone metastases (mets), high physiologic uptake in brain and liver, and cumulative radiation exposure. The site of mets can have prognostic and therapeutic implications. PET/MR, an exciting new hybrid technology, delivers less radiation than PET/CT. Our aim was to compare the differences in metastatic lesion detection using PET/CT & PET/MR in all BC subtypes. Methods: After a single 18-FDG injection, pts had whole body PET/CT for staging and assessment of treatment response. They were transported to another NYU facility & then underwent whole body PET/MR. PET/MR & PET/CT images were each read by a radiologist blinded to prior exams or reports. Number of mets (up to 6) per organ was recorded. 2 experienced radiologists unblinded to imaging and pathology reports served as the “reference standard”. Results: Forty-eight BC pts underwent PET/CT & PET/MR (28 in metastatic setting, 5 for staging & 15 to rule out recurrence). Median age: 55; range 32-79 with 31 ER+/HER2-, 8 ER+/HER2+, 2 ER-/HER2+, 6 ER-/HER2+, 1 unknown. 20 pts had no distant mets on scan. In the remaining 28 pts, the reference standard detected 9 liver, 18 bone, 7 lung/pleura, 5 brain & 10 lymph node (LN) metastases; some patients had ≥1 metastatic site. PET/CT had more false positives (FP) and false negatives (FN) in the detection of mets (Table). PET/MR had 1 FP in the liver. PET/MR accurately detected 2 bone (ER+/HER2-), 3 liver (ER+/HER2-), 2 LN (1 ER+/HER2+; 1 ER+/HER2-) and 5 brain lesions (1 ER+/HER2-; 3 ER-/HER2+; 1 ER+/HER2+) in 10 unique pts that were not identified on PET/CT. 1 liver (ER+/HER2-) and 2 brain mets (ER-/HER2+) identified on PET/MR were previously unknown. Conclusions: Our preliminary data suggest that PET/MR outperformed PET/CT in detecting mets in the liver, brain, LN & possibly bone. Prospective studies of PET/MR are warranted to determine whether early detection of mets, including occult brain mets in HER2+ pts, impacts survival.[Table: see text]

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