Endocrine oncology (Bristol, England)最新文献

{"title":"The expanding role of hormones in cancer.","authors":"Edward P Gelmann","doi":"10.1530/EO-21-0001","DOIUrl":"https://doi.org/10.1530/EO-21-0001","url":null,"abstract":"","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"E1-E2"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9818419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms: a case series and literature review.","authors":"Eleanor Fewings,&nbsp;Serena Khoo Sert Kim,&nbsp;Alexey Larionov,&nbsp;Alison Marker,&nbsp;Olivier Giger,&nbsp;Ashley Shaw,&nbsp;Graeme R Clark,&nbsp;Vasilis Kosmoliaptsis,&nbsp;Benjamin G Challis,&nbsp;Marc Tischkowitz,&nbsp;Ruth T Casey","doi":"10.1530/EO-21-0011","DOIUrl":"https://doi.org/10.1530/EO-21-0011","url":null,"abstract":"<p><strong>Background: </strong>Malignant oncocytic adrenocortical neoplasms (OANs) are rare tumours with a distinctive biological behaviour compared to conventional adrenocortical carcinoma (ACC). The current prognostic systems overestimate the malignant potential of these tumours, and guidance for surveillance and treatment strategies are lacking.</p><p><strong>Aim: </strong>To evaluate the utility of clinical, pathological and molecular markers in predicting the biological behaviour and outcomes of malignant OANs.</p><p><strong>Methods: </strong>A retrospective clinicopathological review of 10 histologically confirmed OANs was carried out. Whole exome sequencing (WES) of germline and paired tumour samples was performed for four of the ten OAN cases and compared to WES data from five cases of conventional ACC and data from The Cancer Genome Atlas. We reviewed all the cases of malignant OAN reported in the literature and compared to our case series.</p><p><strong>Results: </strong>Eight (80%) tumours were classified as malignant, one borderline and one benign (Lin-Weiss-Bisceglia criteria, LWB). The malignant OAN were larger tumours and had higher MIB index and Helsinki scores. Molecular profiling identified a pathogenic germline variant in <i>MSH6</i> in an individual in the OAN group. The OAN samples had a lower mutation burden compared to the ACC samples. Somatic driver variants were identified in OAN and ACC samples including a pathogenic missense variant in <i>CTNNB1</i>.</p><p><strong>Conclusion: </strong>In this study, the LWB classification demonstrated sensitivity for the differentiation of benign from malignant OAN. Molecular profiling identified dysregulation in DNA repair and Wnt signalling pathways in both OAN and ACC samples, suggesting a molecular overlap between OAN and conventional ACC.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"33-44"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9812396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoxia stimulates angiogenesis and a metabolic switch in human parathyroid adenoma cells.","authors":"K E Lines,&nbsp;M Stevenson,&nbsp;R Mihai,&nbsp;I V Grigorieva,&nbsp;O A Shariq,&nbsp;K U Gaynor,&nbsp;J Jeyabalan,&nbsp;M Javid,&nbsp;R V Thakker","doi":"10.1530/EO-21-0014","DOIUrl":"https://doi.org/10.1530/EO-21-0014","url":null,"abstract":"<p><p>Hypoxia, a primary stimulus for angiogenesis, is important for tumour proliferation and survival. The effects of hypoxia on parathyroid tumour cells, which may also be important for parathyroid autotransplantation in patients, are, however, unknown. We, therefore, assessed the effects of hypoxia on gene expression in parathyroid adenoma (PA) cells from patients with primary hyperparathyroidism. Cell suspensions from human PAs were cultured under normoxic or hypoxic conditions and then subjected to cDNA expression analysis. In total, 549 genes were significantly upregulated and 873 significantly downregulated. The most highly upregulated genes (carbonic anhydrase 9 (<i>CA9</i>), Solute carrier family 2A1 (<i>SLC2A1</i>) and hypoxia-inducible lipid droplet-associated protein (<i>HIG2</i>)) had known involvement in hypoxia responses. Dysregulation of oxidative phosphorylation and glycolysis pathway genes were also observed, consistent with data indicating that cells shift metabolic strategy of ATP production in hypoxic conditions and that tumour cells predominantly utilise anaerobic glycolysis for energy production. Proliferation- and angiogenesis-associated genes linked with growth factor signalling, such as mitogen-activated protein kinase kinase 1 (<i>MAP2K1</i>), Jun proto-oncogene (<i>JUN</i>) and ETS proto-oncogene 1 (<i>ETS1</i>), were increased, however, Ras association domain family member 1 (<i>RASSF1</i>), an inhibitor of proliferation was also upregulated, indicating these pathways are unlikely to be biased towards proliferation. Overall, there appeared to be a shift in growth factor signalling pathways from Jak-Stat and Ras signaling to extracellular signal-regulated kinases (ERKs) and hypoxia-inducible factor (HIF)-1α signalling. Thus, our data demonstrate that PAs, under hypoxic conditions, promote the expression of genes known to stimulate angiogenesis, as well as undergoing a metabolic switch.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"23-32"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9812389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adrenocortical cancer recurrence following initial transcutaneous biopsy: a rare demonstration of needle tract seeding.","authors":"Nada Younes,&nbsp;Isabelle Bourdeau,&nbsp;Harold Olney,&nbsp;Paul Perrotte,&nbsp;Odile Prosmanne,&nbsp;Mathieu Latour,&nbsp;David Roberge,&nbsp;André Lacroix","doi":"10.1530/EO-21-0031","DOIUrl":"https://doi.org/10.1530/EO-21-0031","url":null,"abstract":"<p><strong>Summary: </strong>Needle tract seeding is a potential, albeit rare, complication following transcutaneous biopsies, leading to the seeding of tumor cells along the path of the needle. Biopsies of adrenal masses are not routinely recommended and are only indicated, after exclusion of pheochromocytoma, when an adrenal metastasis of a primary extra-adrenal cancer is suspected or when pathological confirmation of inoperable adrenocortical cancer (ACC) may impact treatment. Despite guideline recommendations to avoid primary adrenal biopsy, very few needle tract seeding cases have been reported and none were in the context of an ACC. We report the occurrence of needle tract seeding in a patient following adrenal transcutaneous biopsy leading to ACC abdominal wall recurrence.</p><p><strong>Learning points: </strong>Needle tract seeding is a rare complication of transcutaneous biopsy. It may increase morbidity and impact overall survival. It has yet to be documented in adrenocortical carcinoma (ACC).Adrenal masses can be accurately evaluated for malignancy using a combination of conventional and metabolic imaging, such as CT and fluorodeoxyglucose-PET, obviating the need for biopsies.Adrenal mass biopsy is not indicated in ACC unless advanced ACC is diagnosed, and a pathological confirmation would impact management.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"K7-K12"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9818420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology of craniopharyngiomas: a population-based study in Malta.","authors":"Sarah Craus,&nbsp;Mark Gruppetta","doi":"10.1530/EO-21-0006","DOIUrl":"https://doi.org/10.1530/EO-21-0006","url":null,"abstract":"<p><strong>Background: </strong>Despite being benign tumours, craniopharyngiomas are challenging to manage and can cause significant morbidity and mortality in both the paediatric and adult population. The aim of the study was to analyse the epidemiology of craniopharyngiomas, patient and tumour characteristics through a population-based study in Malta, enabling a better quantification of the disease burden.</p><p><strong>Methods: </strong>Thorough research was carried out to identify the number of patients who were diagnosed with craniopharyngiomas. Epidemiological data, including both standardised incidence rates (SIR) and prevalence rates, were established in a well-defined population. For incidence estimates, patients who were diagnosed between 2008 and 2019 were included. The background population formed 4.8 million patient-years at risk.</p><p><strong>Result: </strong>Twenty-nine subjects were identified and included in our study. The overall SIR was 0.3/100,000/year, with a higher SIR for males compared to females (0.4/100,000/year and 0.2/100,000/year, respectively). The highest SIR was recorded in the 10-19 year age group. The estimated prevalence rate amounted to 5.27/100,000 people, with a lower prevalence rate for childhood-onset when compared to the adult-onset category (2.03/100,000 vs 3.24/100,000 people). The median longest tumour diameter was 31.0 mm (IQR 21-41), with a statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5-47.25) vs 27.0 mm (IQR 20.55-31.55) (<i>P</i> = 0.011).</p><p><strong>Conclusion: </strong>Through this population-based study, accurate and up-to-date prevalence and incidence rates for craniopharyngiomas are reported. These provide a clearer reflection of the true health burden of the disease.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"9-16"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4f/e9/EO-21-0006.PMC10265539.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9818422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum osteopontin can improve papillary thyroid cancer risk assessment of Bethesda III thyroid nodules: a preliminary study.","authors":"T U Kars,&nbsp;M Kulaksızoğlu,&nbsp;I Kılınç","doi":"10.1530/EO-21-0005","DOIUrl":"https://doi.org/10.1530/EO-21-0005","url":null,"abstract":"<p><strong>Objective: </strong>Thyroid cancer can be detected in 5-10% of patients with thyroid nodules. Management may be a challenge if fine-needle aspiration biopsy yields Bethesda III findings. Most of these cases undergo surgery and are ultimately found benign. Our aim was to evaluate whether serum osteopontin can accurately estimate thyroid cancer risk in cases with cytologically Bethesda III thyroid nodules and, thereby, decrease the number of unnecessary surgical interventions.</p><p><strong>Design and methods: </strong>We obtained blood samples of cases with repeated cytologically Bethesda III thyroid nodules before surgery, and followed up the pathology results after thyroidectomy. We evaluated serum osteopontin from 36 patients with papillary thyroid cancer and compared them with 40 benign cases.</p><p><strong>Results: </strong>Serum osteopontin levels in patients with papillary thyroid cancer are significantly higher than in benign cases (mean serum osteopontin: 10.48 ± 3.51 ng/mL vs6.14 ± 2.29 ng/mL, <i>P</i> < 0.001). The area under the receiver operating characteristics curve was 0.851, suggesting that serum osteopontin could have considerable discriminative performance.</p><p><strong>Conclusions: </strong>In our preliminary study, high serum osteopontin levels can predict the risk of papillary thyroid cancer in thyroid nodules with Bethesda III cytology. Further studies are necessary to confirm these findings.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"17-22"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9818424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"cfDNA in pancreatic neuroendocrine carcinoma management with Cushing's syndrome.","authors":"Laura Gerard,&nbsp;David Barthelemy,&nbsp;Arnaud Gauthier,&nbsp;Valerie Hervieu,&nbsp;Jonathan Lopez,&nbsp;Benjamin Gibert,&nbsp;Helene Lasolle,&nbsp;Laurence Chardon,&nbsp;Jessica Garcia,&nbsp;Gérald Raverot,&nbsp;Léa Payen,&nbsp;Thomas Walter","doi":"10.1530/EO-21-0012","DOIUrl":"https://doi.org/10.1530/EO-21-0012","url":null,"abstract":"<p><strong>Summary: </strong>We report a case of metastatic pancreatic neuroendocrine carcinoma associated with paraneoplastic Cushing's syndrome, successively treated with five lines of treatment (platin-etoposide, LV5FU2-dacarbazine, FOLFIRINOX, pembrolizumab, and paclitaxel) and anti-secretory treatment. Circulating-free DNA (cfDNA) was analysed at each morphological evaluation starting from the second-line treatment. cfDNA changes were well correlated with the disease course, and cfDNA may be used as a predictive marker and/or as an early marker of response. In addition, the absolute count of atypical cells was elevated upon disease progression.</p><p><strong>Learning points: </strong>cfDNA changes were well correlated with the Cushing's syndrome course and with the tumour burden changes assessed by laboratory markers and by RECIST criteria.cfDNA analysis was used to determine the pharmacogenetic patterns of the present patient.An elevated number of atypical circulating cells was noticed upon disease progression.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"K1-K6"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/39/b4/EO-21-0012.PMC10265538.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9815807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>FOXE1</i> polymorphism rs965513 predisposes to thyroid cancer in a European cohort.","authors":"Patrick W Owens,&nbsp;Terri Patricia McVeigh,&nbsp;Nicola Miller,&nbsp;Carole Guerin,&nbsp;Frederic Sebag,&nbsp;Denis Quill,&nbsp;Marcia Bell,&nbsp;Michael J Kerin,&nbsp;Aoife J Lowery","doi":"10.1530/EO-21-0003","DOIUrl":"https://doi.org/10.1530/EO-21-0003","url":null,"abstract":"<p><strong>Objective: </strong><i>FOXE1</i> is an intronless gene on chromosome 9 which plays a significant role in thyroid morphogenesis. Mutations in <i>FOXE1</i> are associated with thyroid phenotypes including congenital hypothyroidism, thyroid dysgenesis and thyroid cancer. This study aims to investigate the frequency and impact of a SNP (rs965513, G>A) at 9q22.23 in a Western European cohort of patients with differentiated thyroid cancer(DTC), compared to controls.</p><p><strong>Design: </strong>This is a candidate gene case control study.</p><p><strong>Methods: </strong>277 patients with histologically confirmed DTC were recruited from tertiary referral centres in Ireland and France. 309 cancer-free controls were recruited from the community. DNA was extracted from buccal swabs or whole blood of control subjects and patients with DTC. Allelic and genotypic frequencies among patients were compared with controls, to assess the risk for disease conferred by homozygous and heterozygous carriers compared to WT genotypes. Genotyping was performed using Taqman-based PCR.</p><p><strong>Results: </strong>277 patients with confirmed DTC and 309 non-cancer controls were genotyped for the variant (rs965513). The frequency of the minor allele among cases was 0.45 compared to 0.34 among controls. The genotypic odds ratio for heterozygotes was 1.66 (CI 1.16-2.39, <i>P</i> =0.00555), increasing to 2.93 (CI 1.70-5.05, <i>P</i> =0.00007) for rare homozygotes. All subjects were in Hardy-Weinberg equilibrium (±<i>χ</i>², <i>P</i> =0.09, <i>P</i> =0.07 respectively).</p><p><strong>Conclusions: </strong>This <i>FOXE1</i> polymorphism is a low penetrance variant associated with DTC susceptibility in this cohort. The minor allele was identified among patients with thyroid cancer significantly more frequently than controls. An allele dosage effect was observed, with rare homozygous genotypes conferring greater risk than heterozygotes.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"1 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9815808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}