ccfDNA analysis for the classification of adrenocortical adenomas DOI Creative Commons

Mengjie Xu,

David S. Tourigny,

Juliane Lippert

и другие.

Journal of Endocrinological Investigation, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Abstract Background Somatic alterations are commonly observed in adrenocortical adenomas including cortisol-producing (CPA) [overt Cushing syndrome (CS) or mild autonomous cortisol secretion (MACS)], aldosterone-producing (APA), and non-functioning (NFAT) tumors. We tested whether somatic variants could be detected circulating cell-free DNA (ccfDNA) from patients with potentially contribute to management strategies. Materials methods investigated 44 (17 CPA-MACS, 9 CPA-CS, 12 APA, 6 NFAT). 23 healthy subjects (HS) served as controls. ccfDNA was extracted blood samples quantified fluorimeter. Tumor (T-DNA) isolated paraffin embedded tissue 17/44 cases. Matched ccfDNA/T-DNA were sequenced using a customized panel 32 genes. Leucocyte used filter out germline variants. Results Patients had higher total concentrations than HS [median 0.12 (IQR 0.05–0.19) vs. 0.05 (0.00-0.08) ng/µl, P < 0.001], CPA-CS showing the highest levels [0.18 (0.05–0.47) ng/µl]. Within T-DNA, identified 53% of adenomas: PRKACA 2/7 CTNNB1 3/5 CPA-MACS 1/7 KCNJ5 2/5 APA CACNA1D 1/5 APA. mutations not any samples. Conclusions Total CPA-CS. Despite presence half tumor samples, we did detect at level. Therefore, this approach appears ineffective for pre-operative detection genetic alterations.

Язык: Английский

European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors DOI Creative Commons
Martin Faßnacht, Stylianos Tsagarakis, Massimo Terzolo

и другие.

European Journal of Endocrinology, Год журнала: 2023, Номер 189(1), С. G1 - G42

Опубликована: Июнь 15, 2023

Adrenal incidentalomas are adrenal masses detected on imaging performed for reasons other than suspected disease. In most cases, nonfunctioning adrenocortical adenomas but may also require therapeutic intervention including that carcinoma, pheochromocytoma, hormone-producing adenoma, or metastases. Here, we provide a revision of the first international, interdisciplinary guidelines incidentalomas. We followed Grading Recommendations Assessment, Development and Evaluation system updated systematic reviews 4 predefined clinical questions crucial management incidentalomas: (1) How to assess risk malignancy?; (2) define manage mild autonomous cortisol secretion?; (3) Who should have surgical treatment how it be performed?; (4) What follow-up is indicated if incidentaloma not surgically removed? Selected Recommendations: Each mass requires dedicated imaging. Recent advances now allow discrimination between categories: Homogeneous lesions with Hounsfield unit (HU) ≤ 10 unenhanced CT benign do any additional independent size. All patients discussed in multidisciplinary expert meeting, only >4 cm inhomogeneous HU >20 sufficiently high malignancy surgery will usual choice. Every patient needs thorough endocrine work-up exclude hormone excess measurement plasma urinary metanephrines 1-mg overnight dexamethasone suppression test (applying cutoff value serum ≤50 nmol/L [≤1.8 µg/dL]). studies provided evidence without signs overt Cushing's syndrome levels post >50 (>1.8 µg/dL) harbor increased morbidity mortality. For this condition, propose term "mild secretion" (MACS). MACS screened potential cortisol-related comorbidities potentially attributably (eg, hypertension type 2 diabetes mellitus), ensure these appropriately treated. who relevant considered an individualized approach. (5) The appropriateness guided by likelihood malignancy, presence degree excess, age, general health, preference. guidance which approach radiological findings suspicious malignancy. (6) Surgery usually asymptomatic, unilateral obvious features studies. Furthermore, offer recommendations nonoperated patients, bilateral incidentalomas, extra-adrenal masses, young elderly Finally, suggest important research future.

Язык: Английский

Процитировано

266

Prevalence and Characteristics of Adrenal Tumors in an Unselected Screening Population DOI
Ying Jing, Jinbo Hu, Rong Luo

и другие.

Annals of Internal Medicine, Год журнала: 2022, Номер 175(10), С. 1383 - 1391

Опубликована: Сен. 12, 2022

With the widespread use of advanced imaging technology, adrenal tumors are increasingly being identified.To investigate prevalence and characteristics in an unselected screening population China.Cross-sectional study. (ClinicalTrials.gov: NCT04682938).A health examination center China.Adults having annual checkup were invited to be screened for by computed tomography.The participants with had further evaluation malignancy risk function.A total 25 356 screened, 351 whom found have tumors, a 1.4%. The increased age, from 0.2% aged 18 years 3.2% those older than 65 years. Among 337 diagnosed adrenocortical adenoma, 14 another benign nodule, none malignant mass. In 212 adenoma who completed endocrine testing, 69.3% nonfunctioning 18.9% cortisol autonomy, 11.8% primary aldosteronism, pheochromocytoma. Proportions adenomas similarly high various age groups (72.2%, 67.8%, 72.2% <46, 46 65, ≥66 years, respectively).Only testing.The general adult is 1.4%, most these regardless patient age. Cortisol aldosterone secretion main causes functional adenomas.National Key Research Development Program China National Natural Science Foundation China.

Язык: Английский

Процитировано

61

Comorbidities in mild autonomous cortisol secretion and the effect of treatment: systematic review and meta-analysis DOI Creative Commons
Iris C. M. Pelsma, Martin Faßnacht, Stylianos Tsagarakis

и другие.

European Journal of Endocrinology, Год журнала: 2023, Номер 189(4), С. S88 - S101

Опубликована: Окт. 1, 2023

Abstract Objective To assess (1) comorbidities associated with and (2) treatment strategies for patients adrenal incidentalomas mild autonomous cortisol secretion (MACS; &gt; 1.8 µg/dL (&gt;50 nmol/L) level cut-off following the 1 mg dexamethasone suppression test). Design Systematic review meta-analysis. Methods Seven databases were searched up to July 14, 2022. Eligible studies (randomized) trials, cohort studies, cross-sectional assessing potentially attributable excess or mortality in incidentaloma without MACS effects of conservative surgical management MACS. Random-effects meta-analysis was performed estimate pooled proportions (with 95% CIs). Results In 30 16 (n = 17 156 total), had a higher prevalence diabetes (relative risk [RR] 1.44 [1.23-1.69]), hypertension (RR 1.24 [1.16-1.32]), dyslipidemia 1.23 [1.13-1.34]). All-cause (adjusted confounders) MACS, assessed 4 5921), increased (hazard ratio [HR] 1.54 [1.27-1.81]). Nine observational 856) 2 randomized trials 107) suggest an improvement glucometabolic control 7.99 [2.95-21.90]), 8.75 [3.99-19.18]), 3.24 [1.19-8.82]) adrenalectomy. Conclusions The present systematic highlight relevance since both cardiometabolic morbidities appeared have compared non-functioning incidentalomas. However, due heterogeneous definitions, various outcomes, selective reporting, missing data, reported estimates need be interpreted caution. small number prevents any strong conclusion on causality between these comorbidities.

Язык: Английский

Процитировано

33

Mild autonomous cortisol secretion in adrenal incidentalomas and risk of fragility fractures: a large cross-sectional study DOI
Guido Zavatta, Valentina Vicennati, Paola Altieri

и другие.

European Journal of Endocrinology, Год журнала: 2023, Номер 188(4), С. 343 - 352

Опубликована: Март 23, 2023

Abstract Objective Mild autonomous cortisol secretion (MACS) has been associated with a higher prevalence of osteoporosis, although most data rely on single-center studies limited sample size. We aimed to assess the fragility fractures and contributing factors in large cohort patients adrenal incidentalomas. Design Methods Medical records 1023 incidentalomas from 1990 2019 were reviewed, 735 selected. Clinically obtained electronic radiological images closest first endocrine evaluation, such as lateral views spine X-rays or CT thoraco-abdominal scans, reviewed screen for asymptomatic morphometric vertebral fractures. Clinical fractures, hormonal, dual-energy x-ray absorptiometry (DXA) indices also recorded. Results Four hundred seventy-four had nonfunctioning (NF) incidentalomas, 238 MACS 23 Cushing's syndrome (AC). Prevalence was different (P = .018) between groups, respectively, 24.1% (NF), 34.0% (MACS), 30.4% (AC), significant difference NF .012). When analyzed separately by sex menopausal status, this remained postmenopausal women .011), fracture 22.2% 34.6% (MACS). Fracture similar males. Women aged ≥65 years reported 48.8% compared 29.5% &lt; .01). In women, age (odds ratio [OR] 1.1, P .001), smoking (OR 1.8, .048), 1 mg-dexamethasone suppression test (DST) 3.1, .029), while men, only Conclusions A considerable burden shown MACS, clinical implications evaluation management bone metabolism.

Язык: Английский

Процитировано

22

Mild autonomous cortisol secretion: pathophysiology, comorbidities and management approaches DOI
Alessandro Prete, Irina Bancos

Nature Reviews Endocrinology, Год журнала: 2024, Номер 20(8), С. 460 - 473

Опубликована: Апрель 22, 2024

Язык: Английский

Процитировано

13

Digital transformation for sustainable health and well-being: a review and future research directions DOI Creative Commons

Khizar Hameed,

Ranesh Kumar Naha,

Faisal Hameed

и другие.

Discover Sustainability, Год журнала: 2024, Номер 5(1)

Опубликована: Май 30, 2024

Abstract Ensuring good health and well-being is one of the crucial Sustainable Development Goals (SDGs) that aims to promote healthy lives for people all ages. This involves providing affordable environmentally friendly medical services public fairly equitably. Good goals include achieving fair outcomes strong healthcare systems. It also highlights importance integrating sustainable considerations into policy frameworks developing countries, which are established address social factors influence health. Regarding reform, Information Communication Technologies (ICTs) play a pivotal role as key enablers improve patient access, treatment quality, system efficiency. shift in focus significance fostering digital accessibility, sustainability, inventiveness, cybersecurity, leadership. Nevertheless, incorporating progressively advancing ICT technology systems, sometimes called transformation, not simple. However, some challenges arise integration, application design, security measures. While numerous studies have been suggested tackle technologies these had limited scope considered several factors. Therefore, there pressing need an extensive research study focusing on integration technologies, design challenges, privacy areas, potential positive negative effects. this paper contributes literature covering important SDG, “Good well-being,” its along with summarising our findings detailed taxonomical way. First, we analyze all-encompassing taxonomy prior well-being, emphasizing healthcare, specifically applications associated Electronic Health (E-Health), future avenues exploration. Then, explore transformation significant components, highlight E-Health’s benefits, categorize challenges. Next, determine Blockchain Technology today’s leading E-Health. We discuss characteristics, describe possible types Blockchain-based E-Health use cases. Furthermore, compare impacts identify open issues directions, strengthening researchers solutions.

Язык: Английский

Процитировано

8

PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients’ series DOI Creative Commons
Patricia Vaduva, Lucas Bouys, Anne Jouinot

и другие.

The Journal of Clinical Endocrinology & Metabolism, Год журнала: 2025, Номер unknown

Опубликована: Янв. 4, 2025

Abstract Context Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing syndrome due to nodules, is a heterogeneous disease at clinical, hormonal, and morphological levels. ARMC5-inactivating pathogenic variants are causative PBMAH, rare PDE11A have been associated with PBMAH. Objective The aim this study, on large cohort individuals PBMAH from Europe America, was study ARMC5 genotype determine genotype/phenotype correlation investigate hypothesis that could be modifying gene phenotype. Methods Leukocyte DNA 354 index cases sequenced for genes by next-generation sequencing. Phenotypic characteristics 334 these patients were analyzed correlations. Results Seven out 16 considered damaging according in silico predictions: 6 missense (p.Tyr727Cys, p.Met623Arg, p.Tyr658Cys, p.Ag867Trp, p.Asn298Ser, p.Glu840Lys) 1 stop-gain variant (p.Arg307Ter). In cohort, 11.4% had one 19.2% ARMC5-pathogenic variants. There no statistically significant difference distribution PDE11A-damaging status (P = .83; OR 0.79; 95% CI, 0.26-2.03) nor 0.81; 0.27-2.04). Patients lower urinary free cortisol (0.7 vs 1.25 upper limit normal; P .0002), midnight plasma (157.81 222.19 nmol/L, .016), number nodules (3.46 4.74; .048) compared wild-type patients. more severe phenotype frequent comorbidities often treated adrenalectomy (60%). Conclusion appears modulator phenotype, being an attenuated form. This may contribute heterogeneity affect patient management.

Язык: Английский

Процитировано

1

Cushing syndrome DOI
Lynnette K. Nieman, Fréderic Castinetti, John Newell‐Price

и другие.

Nature Reviews Disease Primers, Год журнала: 2025, Номер 11(1)

Опубликована: Янв. 23, 2025

Язык: Английский

Процитировано

1

Mild autonomous cortisol secretion: impact on bone health and quality of life. A review DOI
Jorge Cassinello, Arturo Vega‐Beyhart, Maite Iriarte

и другие.

Endocrine, Год журнала: 2025, Номер unknown

Опубликована: Фев. 22, 2025

Язык: Английский

Процитировано

1

Erythropoiesis in Cushing syndrome: sex-related and subtype-specific differences. Results from a monocentric study DOI Creative Commons
Mario Detomas, Timo Deutschbein, Mariangela Tamburello

и другие.

Journal of Endocrinological Investigation, Год журнала: 2023, Номер 47(1), С. 101 - 113

Опубликована: Июнь 14, 2023

Abstract Context Cushing syndrome (CS) is associated with different hematological abnormalities. Nevertheless, conflicting data about erythropoiesis in CS have been reported. Furthermore, it unclear whether sex and subtype-specific alterations red blood cells (RBC) parameters are present. Objective To investigate changes RBC patients at initial diagnosis after remission. Design Retrospective, monocentric study including 210 (women, n = 162) matched 1:1 for age to pituitary microadenomas or adrenal incidentalomas (both hormonally inactive). were evaluated Results Women had higher hematocrit (median 42.2 vs 39.7%), hemoglobin (14.1 13.4 g/dl) mean corpuscular volume (MCV) (91.2 87.9 fl) compared the controls (all p < 0.0001). disease (CD) showed hematocrit, levels than those ectopic (ECS) 0.005). Men lower (42.9 44.7%), count (4.8 5.1n*10 6 /µl) (14.2 15.4 g/dl), but MCV (90.8 87.5 0.05). In men CS, no differences identified. Three months remission decreased both sexes. Conclusion characterized by sexual parameters. Compared controls, women hematocrit/hemoglobin levels, whereas hematocrit/hemoglobin, which further directly Therefore, anemia should be considered as complication of men. women, may help differentiate CD from ECS.

Язык: Английский

Процитировано

17