Endocrine oncology (Bristol, England)最新文献

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The androgen receptor amino-terminal domain: structure, function and therapeutic potential. 雄激素受体氨基末端结构域:结构、功能和治疗潜力。
Endocrine oncology (Bristol, England) Pub Date : 2025-02-19 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0061
Irene Hunter, Craig Jamieson, Iain J McEwan
{"title":"The androgen receptor amino-terminal domain: structure, function and therapeutic potential.","authors":"Irene Hunter, Craig Jamieson, Iain J McEwan","doi":"10.1530/EO-24-0061","DOIUrl":"10.1530/EO-24-0061","url":null,"abstract":"<p><p>Signalling by the steroid hormone testosterone involves the androgen receptor (AR), a structurally dynamic protein. The amino-terminal domain of the AR makes up more than half of the protein and has been found to be intrinsically disordered. This structural plasticity mediates receptor-dependent transcription, intradomain interactions and allosteric regulation. AR activity is a primary drug target in advanced and metastatic prostate cancer, a leading cause of cancer-related death in men. Recent research has focused on the amino-terminal domain as a novel drug target. In this review, we discuss the structural properties of the receptor and highlight some promising preclinical and clinical studies that aim to develop a drug discovery pipeline of small-molecule inhibitors targeting the amino-terminal domain.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240061"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574851","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}
引用次数: 0
Thyroid differentiation profile for differentiated thyroid cancer. 分化型甲状腺癌的甲状腺分化谱。
Endocrine oncology (Bristol, England) Pub Date : 2025-02-11 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0072
Anthony J McGoron, Jose M Garcia, Burulça Uluvar, Seza A Gulec
{"title":"Thyroid differentiation profile for differentiated thyroid cancer.","authors":"Anthony J McGoron, Jose M Garcia, Burulça Uluvar, Seza A Gulec","doi":"10.1530/EO-24-0072","DOIUrl":"10.1530/EO-24-0072","url":null,"abstract":"<p><p>Radioactive iodine (RAI) treatment is an established therapeutic tool for 'differentiated thyroid cancers'. The therapeutic effectiveness is linked to the preservation of the iodine-concentrating ability of the neoplastic tissue, a unique, inherent quality of a normal thyroid gland. Iodine concentration is a function involving the expression of transport proteins and organification. Thyroid differentiation score (TDS) is an integrated quantity, first introduced by The Cancer Genome Atlas (TCGA), conveying the relative expression of proteins involved in histogenesis, morphologic and functional differentiation of thyroid tissue. The concept is well described for the expression of metabolic suppression of thyroid cancers associated with RAI-refractoriness. We evaluated the mRNA expressions of thyroid metabolomics-specific genes, comparing normal thyroid to neoplastic tissue in a cohort where patient-specific paired data were available. Fifty-nine papillary thyroid cancer samples from the TCGA project with matched tumor-normal tissue samples were analyzed. Of the 59 samples, 29 contained a BRAF<sup>V600E</sup> mutation, seven a RAS mutation, 10 a mutation other than BRAF or RAS, and 14 either no mutation or an unknown mutation. Our analysis demonstrated that there was a significant downregulation of the RAI theranostic transcriptome, much more significant in BRAF-initiated cancers vs RAS-initiated ones. There was also notable heterogeneity in respective mutational categories where individual assessment of the thyroid differentiation profile (TDP) would potentially be clinically relevant for RAI treatment planning. Determination of TDP and development of a theranostic TDS may have an impact on clinical decision making as to the extent of thyroidectomy and postoperative RAI therapy.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240072"},"PeriodicalIF":0.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143451035","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}
引用次数: 0
Improving neuroendocrine tumor treatments with mathematical modeling: lessons from other endocrine cancers. 用数学建模改进神经内分泌肿瘤治疗:来自其他内分泌肿瘤的经验教训。
Endocrine oncology (Bristol, England) Pub Date : 2025-02-05 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0025
John Metzcar, Rachael Guenter, Yafei Wang, Kimberly M Baker, Kate E Lines
{"title":"Improving neuroendocrine tumor treatments with mathematical modeling: lessons from other endocrine cancers.","authors":"John Metzcar, Rachael Guenter, Yafei Wang, Kimberly M Baker, Kate E Lines","doi":"10.1530/EO-24-0025","DOIUrl":"10.1530/EO-24-0025","url":null,"abstract":"<p><p>Neuroendocrine tumors (NETs) occur sporadically or as part of rare endocrine tumor syndromes (RETSs) such as multiple endocrine neoplasia 1 and von Hippel-Lindau syndromes. Due to their relative rarity and lack of model systems, NETs and RETSs are difficult to study, hindering advancements in therapeutic development. Causal or mechanistic mathematical modeling is widely deployed in disease areas such as breast and prostate cancers, aiding the understanding of observations and streamlining <i>in vitro</i> and <i>in vivo</i> modeling efforts. Mathematical modeling, while not yet widely utilized in NET research, offers an opportunity to accelerate NET research and therapy development. To illustrate this, we highlight examples of how mathematical modeling associated with more common endocrine cancers has been successfully used in the preclinical, translational and clinical settings. We also provide a scope of the limited work that has been done in NETs and map how these techniques can be utilized in NET research to address specific outstanding challenges in the field. Finally, we include practical details such as hardware and data requirements, present advantages and disadvantages of various mathematical modeling approaches and discuss challenges of using mathematical modeling. Through a cross-disciplinary approach, we believe that many currently difficult problems can be made more tractable by applying mathematical modeling and that the field of rare diseases in endocrine oncology is well poised to take advantage of these techniques.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240025"},"PeriodicalIF":0.0,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416334","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}
引用次数: 0
The natural course of cystic pancreatic neuroendocrine tumours in MEN1. MEN1患者囊性胰腺神经内分泌肿瘤的自然病程。
Endocrine oncology (Bristol, England) Pub Date : 2025-02-04 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0050
Eline N M van Vliembergen, Carolina R C Pieterman, Annenienke C van de Ven, Arthur J A T Braat, Gerlof D Valk, Joanne M de Laat
{"title":"The natural course of cystic pancreatic neuroendocrine tumours in MEN1.","authors":"Eline N M van Vliembergen, Carolina R C Pieterman, Annenienke C van de Ven, Arthur J A T Braat, Gerlof D Valk, Joanne M de Laat","doi":"10.1530/EO-24-0050","DOIUrl":"10.1530/EO-24-0050","url":null,"abstract":"<p><p>Pancreatic neuroendocrine tumours (PanNETs) significantly impact life expectancy in multiple endocrine neoplasia type 1 (MEN1). Both solid and cystic pancreatic lesions are observed in MEN1, yet limited research has been focused on cystic lesions in MEN1. While solid PanNETs are generally considered to have an indolent course, the natural course of cystic lesions remains unclear. This study aims to provide more insights into the natural course of cystic PanNETs in MEN1. Patients with MEN1 and radiologically suspected PanNETs, treated at UMC Utrecht and Radboudumc between 2010 and 2023, were included. In the first part, we examined the characteristics of patients with tumours visible on imaging scans. In the second part, we investigated outcomes of pathological examinations, following resection of these lesions. A total of 136 patients were included, comprising 60 men and 76 women. The median follow-up was 5.1 years. [<sup>68</sup>Ga]Ga-DOTATOC PET/CT scans showed that both cystic and solid lesions demonstrated [<sup>68</sup>Ga]Ga-DOTATOC PET/CT uptake. The median growth of cystic and solid PanNETs was similar. Pathological examination of 38 resected tumours confirmed that cystic lesions identified on imaging were indeed PanNETs. Cystic lesions had a median diameter of 26 mm at the time of resection, compared to 18 mm for solid lesions, with comparable Ki-67 indices and mitotic counts. We conclude that cystic and solid PanNETs in MEN1 patients appear to be morphological variations of the same entity, suggesting that similar management approaches should be considered.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240050"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416357","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}
引用次数: 0
Surgical planning of small intestine neuroendocrine tumors: the concept of mesenteric tumor deposits. 小肠神经内分泌肿瘤的手术计划:肠系膜肿瘤沉积的概念。
Endocrine oncology (Bristol, England) Pub Date : 2025-02-04 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0056
Romain L'Huillier, Gilles Poncet, Arnaud Pasquer, Thomas Walter, Catherine Lombard-Bohas, Valérie Hervieu, Bénédicte Cayot, Pierre-Jean Valette, Helen Cheung, Laurent Milot
{"title":"Surgical planning of small intestine neuroendocrine tumors: the concept of mesenteric tumor deposits.","authors":"Romain L'Huillier, Gilles Poncet, Arnaud Pasquer, Thomas Walter, Catherine Lombard-Bohas, Valérie Hervieu, Bénédicte Cayot, Pierre-Jean Valette, Helen Cheung, Laurent Milot","doi":"10.1530/EO-24-0056","DOIUrl":"10.1530/EO-24-0056","url":null,"abstract":"<p><p>The mesenteric extension of small neuroendocrine tumors is the surgical limiting factor because of the risk of postoperative short bowel syndrome due to superior mesenteric artery involvement. Recent pathological studies have shown that this vascular involvement is due to mesenteric tumor deposits, differentiated from lymph node metastases. The aim of this study was to evaluate the performances of computed tomography (CT) for the surgical planning of small intestine neuroendocrine tumors. This was a retrospective observational study, and all patients undergoing surgery for small intestine neuroendocrine tumor between January 2014 and March 2019 were included. Preoperative CTs were reviewed, blinded from surgical and pathological data, by two radiologists. Diagnostic accuracy and interobserver reliability analysis were performed. We included 45 patients (mean age: 61 years (28-84 years); 23 men). The CT sensitivity to identify the mesenteric mass was 97% (37/38) with a <i>ĸ</i> of 0.73. The positive predictive value of CT to anticipate a right colic resection was 86% (18/21). The negative predictive value of CT was high (97% (34/35) to 100% (35/35)) for duodenal resection (<i>ĸ</i> = 0.78). Regarding retropancreatic lymph node invasion, the CT sensitivity was poor (24%, 4/17), with a high <i>ĸ</i> (0.88). The level of involvement by the mesenteric mass was correlated with the length and the percentage of the remaining small bowel. CT is essential for the surgical planning of small intestine neuroendocrine tumors, being accurate in defining the mesenteric tumor deposits, allowing one to anticipate, with a good reproducibility, the length and percentage of the remaining small bowel and the necessity for a right colectomy.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240056"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416353","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}
引用次数: 0
Aripiprazole use as a cause of dopamine agonist failure in the treatment of prolactinomas. 使用阿立哌唑导致多巴胺受体激动剂治疗催乳素瘤失败。
Endocrine oncology (Bristol, England) Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0065
Edward Mignone, Alistair K Jukes, Rowan Valentine, Richard Allison, Sunita M C De Sousa
{"title":"Aripiprazole use as a cause of dopamine agonist failure in the treatment of prolactinomas.","authors":"Edward Mignone, Alistair K Jukes, Rowan Valentine, Richard Allison, Sunita M C De Sousa","doi":"10.1530/EO-24-0065","DOIUrl":"10.1530/EO-24-0065","url":null,"abstract":"<p><p>Prolactinomas are the most common hypersecretory pituitary adenoma. The traditional first-line therapy is dopamine agonists (DAs), which are highly effective and tolerated in the majority of cases. However, DAs have the potential for psychiatric complications, such as psychosis, impulse control disorders and anxiety/depression. It has been repeatedly suggested that aripiprazole may be considered in individuals with a psychiatric disorder and prolactinoma, potentially enabling DA dose reduction or even cessation. We report the first case of aripiprazole competing with cabergoline and reducing its efficacy in the treatment of a giant prolactinoma, as evidenced by an immediate and marked rise in serum prolactin (approximately 350% increase over 5 weeks) despite stable cabergoline dosing. We also present a systematic review of aripiprazole use in prolactinomas, showing that aripiprazole monotherapy effectively reduces serum prolactin and concurrently commenced aripiprazole/DA dual therapy may still permit prolactin lowering, although there were no previous cases where aripiprazole was added to an established DA therapy to indicate the direct effect of aripiprazole on DA efficacy. Based on our case, we support close monitoring of individuals with prolactinomas on dual aripiprazole/DA therapy and recommend against the addition of aripiprazole to DA therapy where timely prolactinoma treatment is essential (e.g. aggressive prolactinomas and those associated with compressive effects).</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240065"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191400","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}
引用次数: 0
A rare case of bladder paraganglioma treated successfully with robotic partial cystectomy. 机器人膀胱部分切除术成功治疗膀胱副神经节瘤一例。
Endocrine oncology (Bristol, England) Pub Date : 2025-01-06 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0044
Kalyan M Shekhda, Jessal M Palan, Christo B Albor, Simon Wan, Teng-Teng Chung
{"title":"A rare case of bladder paraganglioma treated successfully with robotic partial cystectomy.","authors":"Kalyan M Shekhda, Jessal M Palan, Christo B Albor, Simon Wan, Teng-Teng Chung","doi":"10.1530/EO-24-0044","DOIUrl":"10.1530/EO-24-0044","url":null,"abstract":"<p><p>Bladder paragangliomas are rare extra-adrenal urological tumors that account for around 0.05% of bladder cancers. Their diagnosis is often delayed because of the rarity of these tumors. There is a risk of an intraoperative hypertensive crisis if not diagnosed or identified before surgical removal. We describe a case of a 36-year-old lady presented with a 10-year history of post-micturition palpitations and headaches. Her biochemical workup showed raised urinary normetanephrine levels and imaging showed a <sup>123</sup>I MIBG-avid bladder mass compatible with bladder paraganglioma, although interestingly almost no tracer was picked up in <sup>68</sup>Ga DOTATATE imaging. She was started on phenoxybenzamine to control her blood pressure prior to surgery. She underwent a successful robotic partial cystectomy with no complications. After surgery, she remained symptom-free. Bladder paragangliomas are rare neuroendocrine tumors of the bladder, which need to be diagnosed and managed effectively to avoid intraoperative and long-term complications.</p><p><strong>Learning points: </strong>It is important for patients with a bladder lesion to have a comprehensive differential assessment and biochemical and radiological investigations including functional imaging.Multiple imaging modalities along with what is available are useful in the assessment of bladder paraganglioma.The key role of the multidisciplinary team is to plan treatment in the perioperative period for minimizing risk, especially in situations where optimal management is actively debated.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240044"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985510","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}
引用次数: 0
Expression of MMP-2, MMP-9 and TIMP-2 in pituitary tumors and their relationship with cavernous sinus invasion. 垂体肿瘤组织中MMP-2、MMP-9和TIMP-2的表达及其与海绵窦侵袭的关系
Endocrine oncology (Bristol, England) Pub Date : 2025-01-06 eCollection Date: 2025-01-01 DOI: 10.1530/EO-24-0037
Ane Caroline Thé B Freire, Raquel S Jallad, Rafael L Batista, Andrea Glezer, Marcio C Machado, Gilberto Ochman, Valter A Cescato, Malebranche Berardo Carneiro Cunha Neto, Fernando P Frassetto, Raphael S S de Medeiros, Ericka B Trarbach
{"title":"Expression of MMP-2, MMP-9 and TIMP-2 in pituitary tumors and their relationship with cavernous sinus invasion.","authors":"Ane Caroline Thé B Freire, Raquel S Jallad, Rafael L Batista, Andrea Glezer, Marcio C Machado, Gilberto Ochman, Valter A Cescato, Malebranche Berardo Carneiro Cunha Neto, Fernando P Frassetto, Raphael S S de Medeiros, Ericka B Trarbach","doi":"10.1530/EO-24-0037","DOIUrl":"10.1530/EO-24-0037","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the expression of matrix metalloproteinase-2 (MMP-2), MMP-9 and tissue inhibitor of metalloproteinase-2 (TIMP-2) in pituitary tumors and investigate their correlation with circulating plasma proteins and cavernous sinus invasion. In addition, the Ki-67 index was also assessed.</p><p><strong>Methods: </strong>Seventy-four patients (37 females) with pituitary adenomas were included, with preoperative peripheral blood collected in 29 cases. Tumor samples were evaluated for MMP-2, MMP-9, TIMP-2 and Ki-67 expression by immunohistochemistry. Protein plasma was semi-quantitatively detected using a commercial membrane antibody array.</p><p><strong>Results: </strong>Sixteen patients presented tumors invading the cavernous sinus. MMP-2 and TIMP-2 were slightly increased in these tumors compared to the noninvasive group, but the difference was not statistically significant. MMP-9 and TIMP-2 plasma concentrations did not correlate with tumor protein expression and also did not differ between the two groups. MMP-2 was not detected in plasma in any case. No statistically significant difference was observed when different tumor subtypes were considered. A significant difference was observed in tumor size (3.4 cm (2.8-4.9) vs 1.9 cm (1.3-2.6); <i>P</i> < 0.001) and in the Ki-67 index (1.8% (0.3-2.5) vs 0.5% (0.2-1.0); <i>P</i> = 0.01) between the invasive and noninvasive groups.</p><p><strong>Conclusions: </strong>In this cohort, we found no significant correlation between tissue and plasma levels of MMP-2, MMP-9 and TIMP-2 and cavernous sinus invasion in pituitary tumors. Further investigation is needed to elucidate the potential role of these markers in the invasiveness of pituitary tumors.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"5 1","pages":"e240037"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11728929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985517","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}
引用次数: 0
Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma. BRAF/MEK抑制剂治疗突变型BRAF V600E乳头状颅咽管瘤
Endocrine oncology (Bristol, England) Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.1530/EO-24-0024
Eva Marie Erfurth, Peter Siesjö, Pia C Sundgren, Björn Hammar, Sara Kinhult
{"title":"Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma.","authors":"Eva Marie Erfurth, Peter Siesjö, Pia C Sundgren, Björn Hammar, Sara Kinhult","doi":"10.1530/EO-24-0024","DOIUrl":"10.1530/EO-24-0024","url":null,"abstract":"<p><strong>Summary: </strong>Craniopharyngiomas (CPs) are rare brain epithelial tumours arising in the suprasellar region, infiltrating adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity. Papillary CPs (PCPs) harbour in 94% BRAF mutation cases. Two patients with PCP and BRAF V600E mutations but with different tumour status were treated with BRAF and MEK inhibitors. Case I was diagnosed with biopsy and treated for 16 months with BRAF and MEK inhibitors. After 3.5 months, there was a 50% reduction of the tumour volume, and after 13 months, the tumour volume decreased from 2220 to 90 mm<sup>3</sup> (96%). Two months after stopping the drugs, he was treated with fractionated cranial irradiation (54 Gy). No recurrence of the PCP was recorded. Eight months after stopping the drugs, he was diagnosed with an adenocarcinoma of the oesophagus, which led to his death 12 months later. In case II, a woman had had four surgeries due to recurrences of a PCP, and a BRAF V600E mutation was confirmed. After a new recurrence measuring 14 × 12 × 18 mm, she was started on BRAF and MEK inhibitors. After 4 months of treatment, a significant decrease to 8 × 9 × 13 mm was recorded. The treatment continued for 31 months, and the MRI demonstrated a stable unchanged size including scar tissue, with a volume reduction from 633 to 483 mm<sup>3</sup>. During treatment, her visual acuity improved in her left eye from 0.05 to 0.3. After stopping the drugs, 'watchful waiting' with repeated MRI was decided. She is now off treatment for 25 months, without any recurrence on MRI.</p><p><strong>Learning points: </strong>CPs are rare primary brain epithelial tumours arising in the suprasellar region from remnants of Rathke's pouch.CPs infiltrate adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity.PCPs harbour in >90% BRAF V600E mutation.BRAF V600E mutation can successfully be treated with the combination of BRAF V600E and Mekinist inhibitors.It is suggested that PCP patients harbouring BRAF V600E mutation should be offered BRAF V600E and Mekinist inhibitors.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"4 1","pages":"e240024"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017446","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}
引用次数: 0
NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations. NET模型会议2024白皮书:神经内分泌肿瘤研究模型的现状和我们未来的愿望。
Endocrine oncology (Bristol, England) Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI: 10.1530/EO-24-0055
Po Hien Ear, Ilaria Marinoni, Talya Dayton, Rachael Guenter, Dawn E Quelle, Anna Battistella, Floryne O Buishand, Suganthi Chittaranjan, Yi-Cheih Nancy Du, Ines Marques, Natalia S Pellegata, Samira M Sadowski, Amit Tirosh, Simon April-Monn, Cinzia Aurilia, Renata Jaskula-Sztul, Maria Jesús Baena Moreno, Simone Donati, Katherine A English, Maria Almudena Hernandez Llorens, Harry Hodgetts, Francesca Marini, Maria Martins, Gaia Palmini, Beatriz Soldevilla, Jörg Schrader, Rajesh V Thakker, Kate E Lines
{"title":"NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations.","authors":"Po Hien Ear, Ilaria Marinoni, Talya Dayton, Rachael Guenter, Dawn E Quelle, Anna Battistella, Floryne O Buishand, Suganthi Chittaranjan, Yi-Cheih Nancy Du, Ines Marques, Natalia S Pellegata, Samira M Sadowski, Amit Tirosh, Simon April-Monn, Cinzia Aurilia, Renata Jaskula-Sztul, Maria Jesús Baena Moreno, Simone Donati, Katherine A English, Maria Almudena Hernandez Llorens, Harry Hodgetts, Francesca Marini, Maria Martins, Gaia Palmini, Beatriz Soldevilla, Jörg Schrader, Rajesh V Thakker, Kate E Lines","doi":"10.1530/EO-24-0055","DOIUrl":"10.1530/EO-24-0055","url":null,"abstract":"<p><p>Current models for the study of neuroendocrine tumours (NETs) are severely limited. While <i>in vitro</i> (e.g. cell lines), <i>ex vivo</i> (e.g. organoids) and <i>in vivo</i> (e.g. mice) models all exist, each has limitations. To address these limitations and collectively identify strategies to move the NET models field forward, we held an inaugural NET models meeting, hosted by our founding group: Dr Lines (Oxford), Prof. Quelle (Iowa), Dr Dayton (Barcelona), Dr Ear (Iowa), Dr Marinoni (Bern) and Dr Guenter (Alabama). This two-day meeting in Oxford (UK) was organised and supported by Bioscientifica Ltd and was solely dedicated to the discussion of NET models. The meeting was attended by ∼30 international researchers (from the UK, EU, Israel, USA and Canada). Plenary talks were given by Prof. Thakker, who summarised NET research over the past few decades, and Dr Schrader, who described the process and pitfalls of generating new cell lines. Eight researchers also presented their work on topics ranging from human cell 3D bioprinting to zebrafish models and included novel ideas and improvements on current concepts. This was followed by an interactive workshop, where discussion topics included a summary of currently available NET models, limitations of these models, barriers to developing new models, and how we can address these issues going forward. This white paper summarises the key points raised in these discussions and the future aspirations of the NET Models Consortium. The next meeting will take place in Oxford (UK) in 2025; contact contact@netcancerfoundation.com for more information.</p>","PeriodicalId":72907,"journal":{"name":"Endocrine oncology (Bristol, England)","volume":"4 1","pages":"e240055"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017444","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}
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