Endocrine-related cancer最新文献

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Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms. 高级别胃肠胰神经内分泌肿瘤患者的种系致病性变异。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-23 Print Date: 2023-10-01 DOI: 10.1530/ERC-23-0057
Andreas Venizelos, Halfdan Sorbye, Hege Elvebakken, Aurel Perren, Inger Marie B Lothe, Anne Couvelard, Geir Olav Hjortland, Anna Sundlöv, Johanna Svensson, Harrish Garresori, Christian Kersten, Eva Hofsli, Sönke Detlefsen, Lene W Vestermark, Morten Ladekarl, Elizaveta Mitkina Tabaksblat, Stian Knappskog
{"title":"Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms.","authors":"Andreas Venizelos,&nbsp;Halfdan Sorbye,&nbsp;Hege Elvebakken,&nbsp;Aurel Perren,&nbsp;Inger Marie B Lothe,&nbsp;Anne Couvelard,&nbsp;Geir Olav Hjortland,&nbsp;Anna Sundlöv,&nbsp;Johanna Svensson,&nbsp;Harrish Garresori,&nbsp;Christian Kersten,&nbsp;Eva Hofsli,&nbsp;Sönke Detlefsen,&nbsp;Lene W Vestermark,&nbsp;Morten Ladekarl,&nbsp;Elizaveta Mitkina Tabaksblat,&nbsp;Stian Knappskog","doi":"10.1530/ERC-23-0057","DOIUrl":"10.1530/ERC-23-0057","url":null,"abstract":"<p><p>High-grade gastroenteropancreatic (HG-GEP) neuroendocrine neoplasms (NENs) are highly aggressive cancers. The molecular etiology of these tumors remains unclear, and the prevalence of pathogenic germline variants in patients with HG-GEP NENs is unknown. We assessed sequencing data of 360 cancer genes in normal tissue from 240 patients with HG-GEP NENs; 198 patients with neuroendocrine carcinomas (NECs) and 42 with grade 3 neuroendocrine tumors (NET G3). Applying strict criteria, we identified pathogenic germline variants and compared the frequency with previously reported data from 33 different cancer types. We found a recurrent MYOC variant in three patients and a recurrent MUTYH variant in two patients, indicating that these genes may be important underlying risk factors for HG-GEP NENs when mutated. Further, germline variants were found in canonical tumor-suppressor genes, such as TP53, RB1, BRIP1 and BAP1. Overall, we found that 4.5% of patients with NEC and 9.5% of patients with NET G3 carry germline pathogenic or highly likely pathogenic variants. Applying identical criteria for variant classification in silico to mined data from 33 other cancer types, the median percentage of patients carrying pathogenic or highly likely pathogenic variants was 3.4% (range: 0-17%). The patients with NEC and pathogenic germline variants had a median overall survival of 9 months, similar to what is generally expected for metastatic GEP NECs. A patient with NET G3 and pathogenic MUTYH variant had much shorter overall survival than expected. The fraction of HG-GEP NENs with germline pathogenic variants is relatively high, but still <10%, meaning that that germline mutations cannot be the major underlying cause of HG-GEP NENs.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10100743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes. Pacak Zhuang综合征:一个为肿瘤综合征提供新见解的模型。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-17 Print Date: 2023-10-01 DOI: 10.1530/ERC-23-0050
Jared S Rosenblum, Herui Wang, Matthew A Nazari, Zhengping Zhuang, Karel Pacak
{"title":"Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.","authors":"Jared S Rosenblum,&nbsp;Herui Wang,&nbsp;Matthew A Nazari,&nbsp;Zhengping Zhuang,&nbsp;Karel Pacak","doi":"10.1530/ERC-23-0050","DOIUrl":"10.1530/ERC-23-0050","url":null,"abstract":"<p><p>This article is a summary of the plenary lecture presented by Jared Rosenblum that was awarded the Manger Prize at the Sixth International Symposium on Pheochromocytoma/Paraganglioma held on 19-22 October 2022 in Prague, Czech Republic. Herein, we review our initial identification of a new syndrome of multiple paragangliomas, somatostatinomas, and polycythemia caused by early postzygotic mosaic mutations in EPAS1, encoding hypoxia-inducible factor 2 alpha (HIF-2α), and our continued exploration of new disease phenotypes in this syndrome, including vascular malformations and neural tube defects. Continued recruitment and close monitoring of patients with this syndrome as well as the generation and study of a corresponding disease mouse model as afforded by the pheochromocytoma/paraganglioma translational program at the National Institutes of Health has provided new insights into the natural history of these developmental anomalies and the pathophysiologic role of HIF-2α. Further, these studies have highlighted the importance of the timing of genetic defects in the development of related disease phenotypes. The recent discovery and continued study of this syndrome has not only rapidly evolved our understanding of pheochromocytoma and paraganglioma but also deepened our understanding of other developmental tumor syndromes, heritable syndromes, and sporadic diseases.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512798/pdf/nihms-1922042.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10027265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DIPNECH: pragmatic approach, uncertainties, notable associations, and a proposal for an improved definition. DIPNECH:务实的方法,不确定性,显著的关联,以及改进定义的建议。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-16 Print Date: 2023-10-01 DOI: 10.1530/ERC-23-0051
Bilal F Samhouri, Thorvardur R Halfdanarson, Chi Wan Koo, Cormac McCarthy, Eunhee S Yi, Charles F Thomas, Jay H Ryu
{"title":"DIPNECH: pragmatic approach, uncertainties, notable associations, and a proposal for an improved definition.","authors":"Bilal F Samhouri,&nbsp;Thorvardur R Halfdanarson,&nbsp;Chi Wan Koo,&nbsp;Cormac McCarthy,&nbsp;Eunhee S Yi,&nbsp;Charles F Thomas,&nbsp;Jay H Ryu","doi":"10.1530/ERC-23-0051","DOIUrl":"10.1530/ERC-23-0051","url":null,"abstract":"<p><p>Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare, but increasingly recognized entity that primarily affects middle-aged and elderly women. It is characterized by abnormal proliferation of pulmonary neuroendocrine cells (PNECs) and is considered a preinvasive lesion for carcinoid tumorlets/tumors. Sometimes, DIPNECH is accompanied by constrictive bronchiolitis which usually manifests as chronic cough and/or dyspnea, along with airflow limitation on spirometry. The telltale imaging sign of DIPNECH is the presence of multiple noncalcified pulmonary nodules and mosaic attenuation on CT. However, these clinico-radiologic features of DIPNECH are characteristic but nonspecific; thus, histopathologic confirmation is usually necessary. DIPNECH has an indolent course and only rarely leads to respiratory failure or death; progression to overt neuroendocrine tumor (carcinoid) of the lung occurs in a minority of patients. Of available therapies, somatostatin analogs and mechanistic target of rapamycin inhibitors are the most promising. In this review, we provide an update regarding the diagnosis and management of DIPNECH and describe critical gaps in our understanding of this entity, including the central terms 'diffuse' and 'idiopathic.' We also summarize the inconsistencies in definitions employed by recent studies and discuss the pitfalls of the DIPNECH definitions proposed by the World Health Organization in 2021. In this context, we propose an objective and reproducible radio-pathologic case definition intended for implementation in the research realm and seeks to enhance homogeneity across cohorts. Furthermore, we discuss aspects of PNECs biology which suggest that PNEC hyperplasia may contribute to the pathogenesis of phenotypes of lung disease aside from constrictive bronchiolitis and carcinoid tumorlets/tumors. Finally, we steer attention to some of the most pressing and impactful research questions awaiting to be unraveled.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10032404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Cancer in growth hormone excess and growth hormone deficit. 癌症生长激素过量和生长激素缺乏。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-14 Print Date: 2023-10-01 DOI: 10.1530/ERC-22-0402
Jaime Guevara-Aguirre, Gabriela Peña, William Acosta, Gabriel Pazmiño, Jannette Saavedra, Lina Soto, Daniela Lescano, Alexandra Guevara, Antonio W D Gavilanes
{"title":"Cancer in growth hormone excess and growth hormone deficit.","authors":"Jaime Guevara-Aguirre,&nbsp;Gabriela Peña,&nbsp;William Acosta,&nbsp;Gabriel Pazmiño,&nbsp;Jannette Saavedra,&nbsp;Lina Soto,&nbsp;Daniela Lescano,&nbsp;Alexandra Guevara,&nbsp;Antonio W D Gavilanes","doi":"10.1530/ERC-22-0402","DOIUrl":"10.1530/ERC-22-0402","url":null,"abstract":"<p><p>The relationship between growth hormone (GH) excess and cancer is a controversial matter. Until 2016, most studies in patients with acromegaly found links with colon and thyroid neoplasms. However, recent studies found increased risks in gastric, breast, and urinary tract cancer also. Concordantly, clinical situations where GH and insulin-like growth facto-I deficits exist are indeed associated with diminished malignancy incidence. In line with these observations, gain-of-function mutations of various enzymes belonging to the GH and IGF-I signaling pathways have been associated with increased carcinogenesis; similarly, loss-of-function mutations of other enzymes that usually work as tumor repressors are also associated with augmented cancer risk. In a study performed in Ecuador, it was demonstrated that subjects in the Ecuadorian cohort with Laron syndrome (ELS), who have a mutant GH receptor and greatly diminished GH and IGF-I signaling, display diminished incidence of cancer. Along with absent action of GH and IGF-I, ELS individuals also have low serum insulin levels and decreased insulin resistance. Furthermore, hyperglycemia and hyperinsulinemia are indispensable for fast cell mitosis, including that of those cells present in the benign and malignant neoplasms. Notably, and despite their obesity, subjects with the ELS display normoglycemia and hypo-insulinemia, along with diminished incidence of malignancies. We believe that the dual low-IGF-I/low insulin serum levels are responsible for the cancer protection, especially considering that the insulin/INSR signaling is a central site for energy generation in the form of ATP and GDP, which are indispensable for all and every GH/IGF-I physiologic as well as pathologic events.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10020814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emerging therapies for advanced insulinomas and glucagonomas. 晚期胰岛素瘤和胰高血糖素的新疗法。
IF 4.1 2区 医学
Endocrine-related cancer Pub Date : 2023-08-07 Print Date: 2023-09-01 DOI: 10.1530/ERC-23-0020
Krystallenia I Alexandraki, Gregory A Kaltsas, Simona Grozinsky-Glasberg
{"title":"Emerging therapies for advanced insulinomas and glucagonomas.","authors":"Krystallenia I Alexandraki, Gregory A Kaltsas, Simona Grozinsky-Glasberg","doi":"10.1530/ERC-23-0020","DOIUrl":"10.1530/ERC-23-0020","url":null,"abstract":"<p><p>Pancreatic neuroendocrine neoplasms (panNENs) are rare relatively malignancies that, despite their frequently slow-growing pattern, have the ability to metastasize. Metastatic and/or advanced insulinomas and glucagonomas are functioning panNENs emerging from the pancreas displaying unique peculiarities, depending on their hormonal syndromes and increased malignant potential. Advanced insulinomas management follows usually the panNENs therapeutic algorithm, but some distinctions are well advised together with aiming to control hypoglycemias that occasionally can be severe and refractory to treatment. When first-generation somatostatin analogues (SSAs) fail to control hypoglycemia syndrome, second-generation SSAs and everolimus have to be considered for exploiting their hyperglycemic effect. There is evidence that everolimus is still effective after rechallenge retaining its hypoglycemic effect independently of its antitumor effect that seems to be mediated by different molecular pathways. Peptide receptor radionuclide therapy (PRRT) constitutes a promising therapeutic option for both its antisecretory and antitumoral action. Similarly, advanced and/or metastatic glucagonomas management also follows the panNENs therapeutic algorithm, but the clinical syndrome has to be addressed by aminoacid infusion and by first-generation SSAs to improve the patient performance status. PRRT seems to be an effective treatment when surgery and SSAs fail. The application of these therapeutic modalities has been shown to be efficacious in controlling the manifestations of the secretory syndrome and prolonging the overall survival of patients suffering from these malignancies.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 9","pages":""},"PeriodicalIF":4.1,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9954701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A clinically applicable molecular classification of oncocytic cell thyroid nodules. 甲状腺嗜酸细胞结节的临床适用分子分类。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-03 Print Date: 2023-09-01 DOI: 10.1530/ERC-23-0047
Elizabeth J de Koster, Willem E Corver, Lioe-Fee de Geus-Oei, Wim J G Oyen, Dina Ruano, Abbey Schepers, Marieke Snel, Tom van Wezel, Dennis Vriens, Hans Morreau
{"title":"A clinically applicable molecular classification of oncocytic cell thyroid nodules.","authors":"Elizabeth J de Koster,&nbsp;Willem E Corver,&nbsp;Lioe-Fee de Geus-Oei,&nbsp;Wim J G Oyen,&nbsp;Dina Ruano,&nbsp;Abbey Schepers,&nbsp;Marieke Snel,&nbsp;Tom van Wezel,&nbsp;Dennis Vriens,&nbsp;Hans Morreau","doi":"10.1530/ERC-23-0047","DOIUrl":"10.1530/ERC-23-0047","url":null,"abstract":"<p><p>Whole chromosome instability with near-whole genome haploidization (GH) and subsequent endoreduplication is considered a main genomic driver in the tumorigenesis of oncocytic cell thyroid neoplasms (OCN). These copy number alterations (CNA) occur less frequently in oncocytic thyroid adenoma (OA) than in oncocytic carcinoma (OCA), suggesting a continuous process. The current study described the CNA patterns in a cohort of 30 benign and malignant OCN, observed using a next-generation sequencing (NGS) panel that assesses genome-wide loss of heterozygosity (LOH) and chromosomal imbalances using 1500 single-nucleotide polymorphisms (SNPs) across all autosomes and the X chromosome in DNA derived from cytological and histological samples. Observed CNA patterns were verified using multiparameter DNA flow cytometry with or without whole-genome SNP array analysis and lesser-allele intensity-ratio (LAIR) analysis. On CNA-LOH analysis using the NGS panel, GH-type CNA were observed in 4 of 11 (36%) OA and in 14 of 16 OCA (88%). Endoreduplication was suspected in 8 of 16 (50%) OCA, all with more extensive GH-type CNA (P < 0.001). Reciprocal chromosomal imbalance type CNA, characterized by (imbalanced) chromosomal copy number gains and associated with benign disease, were observed in 6 of 11 (55%) OA and one equivocal case of OCA. CNA patterns were different between the histopathological subgroups (P < 0.001). By applying the structured interpretation and considerations provided by the current study, CNA-LOH analysis using an NGS panel that is feasible for daily practice may be of great added value to the widespread application of molecular diagnostics in the diagnosis and risk stratification of OCN.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 9","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10074057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet. 淋巴管平滑肌瘤病:内分泌、免疫学和肿瘤生物学的交汇点。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-02 Print Date: 2023-09-01 DOI: 10.1530/ERC-23-0102
Erin Gibbons, Briaunna M N Minor, Stephen R Hammes
{"title":"Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet.","authors":"Erin Gibbons, Briaunna M N Minor, Stephen R Hammes","doi":"10.1530/ERC-23-0102","DOIUrl":"10.1530/ERC-23-0102","url":null,"abstract":"<p><strong>Abstract: </strong>Lymphangioleiomyomatosis (LAM) is a cystic lung disease found almost exclusively in genetic females and caused by small clusters of smooth muscle cell tumors containing mutations in one of the two tuberous sclerosis genes (TSC1 or TSC2). Significant advances over the past 2-3 decades have allowed researchers and clinicians to more clearly understand the pathophysiology of LAM, and therefore better diagnose and treat patients with this disease. Despite substantial progress, only one proven treatment for LAM is used in practice: mechanistic target of rapamycin complex 1 (mTORC1) inhibition with medications such as sirolimus. While mTORC1 inhibition effectively slows LAM progression in many patients, it is not curative, is not effective in all patients, and can be associated with significant side effects. Furthermore, the presence of established and accurate biomarkers to follow LAM progression is limited. That said, discovering additional diagnostic and treatment options for LAM is paramount. This review will describe recent advances in LAM research, centering on the origin and nature of the LAM cell, the role of estrogen in LAM progression, the significance of melanocytic marker expression in LAM cells, and the potential roles of the microenvironment in promoting LAM tumor growth. By appreciating these processes in more detail, researchers and caregivers may be afforded novel approaches to aid in the treatment of patients with LAM.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 9","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10529736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9924094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unfavorable biological behavior and treatment response of neuroendocrine ovarian metastases of midgut neuroendocrine tumors. 中肠神经内分泌肿瘤卵巢转移的不良生物学行为及治疗反应。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-01 DOI: 10.1530/ERC-23-0035
M C F Mulders, Q G de Lussanet de la Sablonière, M L F Van Velthuysen, E M Roes, J Hofland, Wouter W de Herder
{"title":"Unfavorable biological behavior and treatment response of neuroendocrine ovarian metastases of midgut neuroendocrine tumors.","authors":"M C F Mulders,&nbsp;Q G de Lussanet de la Sablonière,&nbsp;M L F Van Velthuysen,&nbsp;E M Roes,&nbsp;J Hofland,&nbsp;Wouter W de Herder","doi":"10.1530/ERC-23-0035","DOIUrl":"https://doi.org/10.1530/ERC-23-0035","url":null,"abstract":"<p><p>Neuroendocrine ovarian metastases (NOM) predominantly derive from midgut neuroendocrine tumors (NETs) and develop in about 25% of women with advanced stage of this malignancy. Little is known of the growth rate and treatment response of NOM. We therefore evaluated the efficacy of different management options for patients with NOM, including peptide receptor radionuclide therapy (PRRT), somatostatin analogues (SSAs) and oophorectomy. Records were screened for patients with well-differentiated NOM of midgut origin that presented in our NET referral center between 1991 and 2022. Progression-free survival (PFS) and tumor growth rate (TGR) of ovarian and extra-ovarian metastases were determined using RECIST (response evaluation criteria in solid tumors) 1.1. In 12 available patients undergoing PRRT, NOM were associated with a shorter PFS than extra-ovarian metastases (P = 0.003). While PRRT induced a similar decrease in TGR for ovarian and extra-ovarian lesions in nine patients with available data (-2.3 vs -1.4, P > 0.05), only the TGR of NOM remained positive after PRRT. In 16 patients treated with SSAs, the TGR of NOM was almost three times that of extra-ovarian lesions during treatment (2.2 vs 0.8, P = 0.011). Oophorectomy was performed in 46 of the 61 included patients and was significantly associated with a prolonged OS (115 vs 38 months, P < 0.001). This association persisted after propensity score matching and correction for tumor grade and simultaneous tumor debulking. In conclusion, NOM have a higher TGR compared to extra-ovarian metastases, resulting in a shorter PFS after PRRT. Bilateral salpingo-oophorectomy should be considered for postmenopausal women with NOM undergoing surgery for metastatic midgut NETs.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9695327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of long noncoding RNAs with aberrant expression in prostate cancer metastases. 前列腺癌转移中异常表达的长链非编码rna的鉴定。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-01 DOI: 10.1530/ERC-22-0247
Mina Sattari, Annika Kohvakka, Elaheh Moradi, Hanna Rauhala, Henna Urhonen, William B Isaacs, Matti Nykter, Teemu J Murtola, Teuvo L J Tammela, Leena Latonen, G Steven Bova, Juha Kesseli, Tapio Visakorpi
{"title":"Identification of long noncoding RNAs with aberrant expression in prostate cancer metastases.","authors":"Mina Sattari,&nbsp;Annika Kohvakka,&nbsp;Elaheh Moradi,&nbsp;Hanna Rauhala,&nbsp;Henna Urhonen,&nbsp;William B Isaacs,&nbsp;Matti Nykter,&nbsp;Teemu J Murtola,&nbsp;Teuvo L J Tammela,&nbsp;Leena Latonen,&nbsp;G Steven Bova,&nbsp;Juha Kesseli,&nbsp;Tapio Visakorpi","doi":"10.1530/ERC-22-0247","DOIUrl":"https://doi.org/10.1530/ERC-22-0247","url":null,"abstract":"<p><p>Prostate cancer (PCa) is the second-most common cause of male cancer-related death in western industrialized countries, and the emergence of metastases is a key challenge in the treatment of PCa. Accumulating studies have shown that long noncoding RNAs (lncRNAs) play an important role in the regulation of diverse cellular and molecular processes during the development and progression of cancer. Here, we utilized a unique cohort of castration-resistant prostate cancer metastases (mCRPC) and corresponding localized tumors and RNA sequencing (RNA-seq). First, we showed that patient-to-patient variability accounted for most of the variance in lncRNA expression between the samples, suggesting that genomic alterations in the samples are the main drivers of lncRNA expression in PCa metastasis. Subsequently, we identified 27 lncRNAs with differential expression (DE-lncRNAs) between metastases and corresponding primary tumors, suggesting that they are mCRPC-specific lncRNAs. Analyses of potential regulation by transcription factors (TFs) revealed that approximately half of the DE-lncRNAs have at least one binding site for the androgen receptor in their regulatory regions. In addition, TF enrichment analysis revealed the enrichment of binding sites for PCa-associated TFs, such as FOXA1 and HOXB13, in the regulatory regions of the DE-lncRNAs. In a cohort of prostatectomy-treated prostate tumors, four of the DE-lncRNAs showed association with progression-free time and two of them (lnc-SCFD2-2 and lnc-R3HCC1L-8) were independent prognostic markers. Our study highlights several mCRPC-specific lncRNAs that might be important in the progression of the disease to the metastatic stage and may also serve as potential biomarkers for aggressive PCa.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9763118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Second primary cancers and survival among neuroendocrine tumor patients. 神经内分泌肿瘤患者的第二原发肿瘤与生存。
IF 3.9 2区 医学
Endocrine-related cancer Pub Date : 2023-08-01 DOI: 10.1530/ERC-22-0337
Sarah B Bateni, Natalie G Coburn, Calvin Law, Simron Singh, Sten Myrehaug, Angela Assal, Julie Hallet
{"title":"Second primary cancers and survival among neuroendocrine tumor patients.","authors":"Sarah B Bateni,&nbsp;Natalie G Coburn,&nbsp;Calvin Law,&nbsp;Simron Singh,&nbsp;Sten Myrehaug,&nbsp;Angela Assal,&nbsp;Julie Hallet","doi":"10.1530/ERC-22-0337","DOIUrl":"https://doi.org/10.1530/ERC-22-0337","url":null,"abstract":"<p><p>There is an increased risk of second primary cancers (SPCs) after neuroendocrine tumor (NET) diagnosis. The clinical significance of SPCs in this population is unknown. The purpose of this study was to evaluate the association between SPCs after NET diagnosis and survival. We performed a population-based, retrospective cohort study of NET patients (gastrointestinal, pancreatic, or lung primary) from 2000 to 2016 using the Surveillance, Epidemiology, and End Results database. Cox regression models assessed the association between SPCs and NET-specific (NET-SS), cancer-specific (CSS), and overall survival (OS). Of 58,553 NET patients, 7.9% experienced an SPC. SPCs were associated with worse OS (hazard ratio (HR) 2.14, 95% CI 1.94-2.36) and CSS (HR 2.31, 95% CI 2.06-2.59) with no difference in NET-SS (HR 1.04, 95% CI 0.87-1.23). Stratified analyses by histologic grade showed similar results for well and moderately differentiated NETs, but no difference in OS or CSS for poorly differentiated NETs (P > 0.05). In stratified analyses by NET site, SPCs were associated with worse OS (HR 3.41, 95% CI 3.01-3.87) and CSS (HR 4.96, 95% CI 4.28-5.74) in gastrointestinal NETs and worse OS (HR 1.25, 95% CI 1.03-1.52) with no difference in CSS (HR 1.08, 95% CI 0.85-1.36) in lung NETs. SPCs were not associated with a difference in OS or CSS in pancreatic NETs (P > 0.05). In conclusion, SPCs after NETs were associated with inferior OS and CSS compared to no SPC but were not associated with NET-SS. These data highlight the need for long-term follow-up in NETs to include the detection of SPCs to ensure early diagnosis and timely management.</p>","PeriodicalId":11654,"journal":{"name":"Endocrine-related cancer","volume":"30 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9701115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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