Search

Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs. More than twenty years later, not all cases of MENs have been resolved from a genetic point of view, and new clinicogenetic entities have been described. In this review, we will discuss the strategies and difficulties of genetic screening for classic and newly described MENs in a clinical setting, from limitations in sequencing, to problems in classifying variants, to the identification of new candidate genes. In the era of genomic medicine, characterization of new candidate genes and their specific tumor risk is essential for inclusion of patients in personalized medicine programs as well as to permit accurate genetic counseling to be proposed for families. [ABSTRACT FROM AUTHOR]

The article discusses the prevalence of vasopressin deficiency (AVP-D) following surgery for craniopharyngiomas, a type of pituitary tumor. The incidence of AVP-D varies widely, with rates ranging from 30% to 90%. The study by Fountas et al. aimed to provide a more accurate estimate of AVP-D incidence post-surgery, highlighting the importance of personalized management for patients. The article emphasizes the need for careful diagnosis and treatment of AVP-D, as it can have life-threatening consequences. [Extracted from the article]

Context: [18F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. Objectives: To assess the performance of Tumour standardized uptake value (SUV)max:Liver SUVmax for malignancy‐risk and to build and evaluate a prediction model. Design/Methods: The cohort consisted of consecutive patients with adrenal masses evaluated by [18F]FDG PET/CT. The gold standard for malignancy was based on histology or a multidisciplinary consensus in nonoperated cases. The performance of the previously reported cut‐off for Tumour SUVmax:Liver SUVmax (>1.5) was evaluated in this independent cohort. Additionally, a predictive model of malignancy was built from the training cohort (previous study) and evaluated in the validation cohort (current study). Results: Sixty‐four patients were evaluated; 28% of them had a Cushing's syndrome. Fifty‐four adrenal masses were classified as benign and 10 as malignant (including 7 adrenocortical carcinomas). Compared to benign masses, malignant lesions were larger in size, had higher unenhanced densities and higher [18F]FDG uptake. CT‐derived anthropometric parameters did not differ between benign and malignant masses. A tumour SUVmax:Liver SUVmax > 1.5 showed a good diagnostic performance: Se = 90.0%/Sp = 92.6%/PPV = 69.2%/NPV = 98.0% and accuracy = 92.2%. A predictive model based on tumour size and tumour‐to‐liver uptake SUVmax ratio for malignancy‐risk was validated and provides a complementary approach to the ratio. Conclusions: Tumour SUVmax:Liver SUVmax uptake ratio is a useful biomarker for diagnosis of adrenal masses. Another tactic would be to calculate with the model an individual risk of malignancy and integrate this information into a shared decision‐making process. [ABSTRACT FROM AUTHOR]

Introduction: In patients with ileal neuroendocrine tumours (ileal NETs), head‐to‐head evaluation of diagnostic performances of 68Ga‐DOTA‐peptides and 18F‐fluorodihydroxyphenylalanine (18F‐FDOPA) positron emission tomography/computed tomography (PET/CT) has been performed in only few small patients' cohorts. The aim of this retrospective study was to compare 68Ga‐DOTATOC and 18F‐FDOPA PET/CT for metastatic disease assessment in a homogeneous large series of patients with well‐differentiated ileal NETs. Methods: All patients with ileal NETs who underwent both 18F‐FDOPA and 68Ga‐DOTATOC PET/CT within a 3‐month period and no therapeutic change between the two studies were retrospectively included. The detection rates of both modalities were calculated using per‐patient, per‐region and per‐lesion analyses. Results: Forty one patients with ileal NETs were evaluated. 18F‐FDOPA and 68Ga‐DOTATOC showed similar detection rates according to per‐patient (97% for both) and per‐region analyses (94% for 18F‐FDOPA vs 88% for 68Ga‐DOTATOC, P =.35). For a total of 605 positive lesions, 458 (76%) were detected by both modalities, 122 (20%) exclusively by 18F‐FDOPA PET/CT, and 25 (4%) by 68Ga‐DOTATOC PET/CT only. In a per‐lesion analysis, 18F‐FDOPA PET/CT performed better than 68Ga‐DOTATOC PET/CT (overall detection rates of 96% vs 80%; P <.001). 18F‐FDOPA PET/CT detected significantly more metastases than 68Ga‐DOTATOC PET/CT in the liver, peritoneum, abdominal and supra‐diaphragmatic lymph nodes. Conclusion: 18F‐FDOPA PET/CT seems not inferior than 68Ga‐DOTATOC PET/CT for the delineation of metastatic spread of ileal NETs. Therefore, according to local expertise and technical availability, 18F‐FDOPA should be considered as a valid clinical diagnostic option for exhaustive metastatic assessment in patients with ileal NETs. Obviously, 68Ga‐DOTATOC PET/CT remains mandatory for PRRT assessment. Further comparative studies are needed to determine the optimal approach in various clinical scenarios such as preoperative staging and primary tumour detection. [ABSTRACT FROM AUTHOR]

Aims: Hypophysitis is defined as an inflammation of the pituitary gland and/or infundibulum. Our aim was to characterize the initial course and evolution of patients with hypophysitis according to the different etiologies., Patients and Methods: Retrospective observational study conducted in a universitary referral hospital center. Patients over 15 years of age were included if they had a diagnosis of hypophysitis between January 2014 and October 2023, with the exclusion of hypophysitis secondary to immune checkpoint inhibitors., Results: Sixty-one patients (64% women; median age, 34 years) were included. Polyuria-polydipsia, headache and asthenia were present in 64%, 48% and 44% of cases respectively. At diagnosis, at least one anterior pituitary deficiency was present in 91.5% of cases and vasopressin deficiency in 56%. MRI was abnormal in 97% of cases. Secondary hypophysitis was found in 46% of cases (n=28), including sarcoidosis in 28% (n=17) and L-group histiocytoses in 13.1% (n=8). Among patients with secondary hypophysitis, pituitary deficiency preceded systemic manifestations in 23% and occurred concomitantly in 23% of cases. Patients were treated in 36% of cases (glucocorticoids, surgery…), without improvement of pituitary hormone deficits., Conclusions: A systemic etiology of hypophysitis was found in almost half of the patients. Pituitary disorders preceded the systemic disease in a quarter of the cases. This emphasizes the importance of a systematic repeated workup looking for a secondary etiology of hypophysitis in these patients., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. See the journal About page for additional terms.)

Our objective was to compare the respective value of 68 Ga-DOTATOC and 18 F-DOPA PET/CT for initial staging or presurgical work-up of patients with small-intestine neuroendocrine tumors (SiNETs). Methods: This was a retrospective, multicenter, noninterventional investigation involving 53 non-surgically treated SiNET patients who underwent both 68 Ga-DOTATOC and 18 F-DOPA PET/CT within a 6-mo interval without surgical intervention or therapeutic change between the 2 PET/CT studies. Percentage detection rate was calculated according to per-region and per-lesion analyses. Sensitivity for primary tumor detection was assessed in 37 surgically treated patients, taking surgical results (76 SiNETs) as the diagnostic gold standard. Results: 68 Ga-DOTATOC PET/CT and 18 F-DOPA PET/CT individually identified at least 1 primary SiNET in 92% (34/37) of the patients. Intestinal tumor multifocality was confirmed by histology in 8 patients. 68 Ga-DOTATOC and 18 F-DOPA PET/CT were concordantly positive for tumor multifocality in 5 patients, discordantly positive in 2 patients, and concordantly negative in 1 patient. The detection rate for subdiaphragmatic nodal metastases on per-region-based analysis was 91% and 98% for 68 Ga-DOTATOC and 18 F-DOPA PET/CT, respectively ( P = 0.18). 18 F-DOPA PET/CT detected a higher number of abnormal subdiaphragmatic nodes ( P = 0.009). Regarding mesenteric nodes only, 18 F-DOPA PET/CT detected more positive regions ( P = 0.005) and nodal lesions ( P = 0.003) than 68 Ga-DOTATOC PET/CT, including nodes at the origin of mesenteric vessels. For detection of distant metastases, 68 Ga-DOTATOC and 18 F-DOPA PET/CT performed equally well on a per-region-based analysis. As compared with 68 Ga-DOTATOC, 18 F-DOPA PET/CT detected more hepatic ( P < 0.001), peritoneal ( P < 0.001), and lung metastases ( P < 0.001). Conclusion: 18 F-DOPA PET/CT detected more lesions than 68 Ga-DOTATOC PET/CT in the studied patients. The respective roles of the two should be discussed in terms of disease staging and treatment selection., (© 2022 by the Society of Nuclear Medicine and Molecular Imaging.)

Our objective was to assess the value of 68 Ga-DOTATOC and carbidopa-assisted 18 F-fluorodihydroxyphenylalanine ( 18 F-DOPA) in 21 hypoglycemic patients. Methods: All patients who underwent 68 Ga-DOTATOC or carbidopa-assisted 18 F-DOPA PET/CT for suspicion of insulinoma from January 2019 to January 2021 were retrospectively analyzed. A final diagnosis of insulinoma was determined by pathologic reports or consensus. Results: During the study period, 21 patients underwent both 68 Ga-DOTATOC and 18 F-DOPA PET/CT. A final diagnosis of insulin-secreting tumor was reached in 12 cases, including 11 insulinomas and 1 small mixed neuroendocrine/nonneuroendocrine neoplasm. 18 F-DOPA and 68 Ga-DOTATOC PET/CT were positive in 5 (45%) and 7 (64%) of 11 cases, respectively, with 4 concordant positive findings. Moreover, 1 insulinoma was visualized exclusively by 18 F-DOPA PET/CT and 3 by 68 Ga-DOTATOC PET/CT only. 18 F-DOPA and 68 Ga-DOTATOC PET/CT were falsely positive in 1 nonfunctioning pancreatic neuroendocrine tumor. Conclusion: When 68 Ga-exendin-4 is not available, 68 Ga-somatostatin receptor PET/CT should be the first choice for insulinoma functional imaging., (© 2022 by the Society of Nuclear Medicine and Molecular Imaging.)