Endocrine-related cancer最新文献_第10页

Mobile elements in pituitary neuroendocrine tumors: integrative evidence and future directions. 垂体神经内分泌肿瘤的活动因子：综合证据和未来方向。

IF 4.6

Endocrine-related cancer Pub Date : 2026-05-08 Print Date: 2026-05-01 DOI: 10.1530/ERC-25-0539

Rafael Loch Batista, Nathália Da Roz D'Alessandre, Flora Ladeira Craveiro, Juliana Moreira Marques, Elisa França Chaves, Gabriel Arantes Dos Santos, Gabriela Der Agopian Guardia, Pedro Alexandre Favoretto Galante

{"title":"Mobile elements in pituitary neuroendocrine tumors: integrative evidence and future directions.","authors":"Rafael Loch Batista, Nathália Da Roz D'Alessandre, Flora Ladeira Craveiro, Juliana Moreira Marques, Elisa França Chaves, Gabriel Arantes Dos Santos, Gabriela Der Agopian Guardia, Pedro Alexandre Favoretto Galante","doi":"10.1530/ERC-25-0539","DOIUrl":"10.1530/ERC-25-0539","url":null,"abstract":"Mobile genetic elements (MGEs), including LINE-1 retrotransposons, Alu and SVA elements, and human endogenous retroviruses (HERVs), constitute nearly half of the human genome and are increasingly understood to influence multiple dimensions of cancer evolution. Yet, pituitary neuroendocrine tumors (PitNETs) remain almost absent from mobilome research, despite exhibiting genomic and epigenetic contexts permissive to retroelement activation. In this review, we synthesize current evidence linking MGEs to PitNET biology and delineate unresolved but testable mechanisms. Structural genomic studies demonstrate that Alu-mediated non-allelic homologous recombination contributes to germline mutagenesis in MEN1 and AIP, reinforcing the notion that repetitive DNA architecture shapes PitNET predisposition. Transcriptomic analyses reveal global derepression of transposable elements and LINE-1 hypomethylation in subsets of tumors, while mechanistic connections to chromatin instability emerge from recurrent ATRX/DAXX deficiency and TP53 inactivation, both established repressors of retroelements. Furthermore, the retrocopy-derived long non-coding RNA RPSAP52 exemplifies how mobilome-origin transcripts can be co-opted as oncogenic regulators in PitNETs, acting through HMGA2-dependent proliferative networks. Preliminary data also suggest endogenous retroviral activation, with consistent upregulation of HERV envelope genes across distinct tumor subtypes. Nevertheless, no study has yet systematically mapped somatic mobile-element insertions (MEIs), quantified LINE-1 protein activity, or profiled HERV expression at locus resolution in PitNETs. Mobilome biology represents a tractable and conceptually rich frontier with diagnostic, prognostic, and therapeutic potential in pituitary tumorigenesis.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HMGCS1 as a potential mediator of resistance to EZH2 inhibition via ferroptosis mediated by PI3K/AKT/mTOR pathway in the pancreatic neuroendocrine neoplasms. HMGCS1在胰腺神经内分泌肿瘤中通过PI3K/AKT/mTOR途径介导的铁凋亡抵抗EZH2抑制的潜在介质

IF 4.6

Endocrine-related cancer Pub Date : 2026-05-06 Print Date: 2026-05-01 DOI: 10.1530/ERC-25-0478

Na He, Yanling Xu, Lijun Yan, Ping Hu, Jianan Bai, Bingyan Xue, Chunhua Hu, Xintong Lu, Min Liu, Mujie Ye, Qiyun Tang

{"title":"HMGCS1 as a potential mediator of resistance to EZH2 inhibition via ferroptosis mediated by PI3K/AKT/mTOR pathway in the pancreatic neuroendocrine neoplasms.","authors":"Na He, Yanling Xu, Lijun Yan, Ping Hu, Jianan Bai, Bingyan Xue, Chunhua Hu, Xintong Lu, Min Liu, Mujie Ye, Qiyun Tang","doi":"10.1530/ERC-25-0478","DOIUrl":"10.1530/ERC-25-0478","url":null,"abstract":"In recent years, EZH2 inhibitors have shown potential therapeutic value in certain hematological malignancies and solid tumors. However, the role and mechanisms of EZH2 in pancreatic neuroendocrine neoplasms (pNENs) remain unclear. This study investigated the effects and mechanism of the EZH2 inhibitor GSK126 on pNENs. Public database analysis revealed that increased EZH2 expression correlates with poor prognosis in pNEN patients. We found that EZH2 is significantly upregulated in pNEN tissues and cell lines, and its knockdown or treatment with GSK126 inhibits proliferation and induces ferroptosis in vitro. In vivo, EZH2 knockdown or GSK126 treatment suppressed subcutaneous tumor growth in nude mice. Mechanistic studies showed that GSK126 induces ferroptosis by inhibiting the PI3K/AKT/mTOR pathway. In addition, GSK126 upregulated HMGCS1, a gene linked to ferroptosis. HMGCS1 may act as an oncogene by activating the PI3K/AKT/mTOR pathway, and the knockdown of HMGCS1 can enhance GSK126-induced ferroptosis and the inhibitory effect of GSK126 on the PI3K/AKT/mTOR pathway. Furthermore, combining GSK126 with everolimus, an mTOR inhibitor used clinically for pNENs, more effectively inhibited cell proliferation and tumor growth. In summary, our findings reveal that the EZH2 inhibitor GSK126 induces ferroptosis by inhibiting the PI3K/AKT/mTOR pathway, suppressing pNENs progression, and HMGCS1 may mediate resistance to EZH2 inhibitors, offering new insights into pNEN treatment.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DNA methylation and demethylation dynamics in pituitary neuroendocrine tumours. 垂体神经内分泌肿瘤的DNA甲基化和去甲基化动力学。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-21 Print Date: 2026-04-01 DOI: 10.1530/ERC-26-0030

Borbála Szabó, Attila Patócs, Henriett Butz

{"title":"DNA methylation and demethylation dynamics in pituitary neuroendocrine tumours.","authors":"Borbála Szabó, Attila Patócs, Henriett Butz","doi":"10.1530/ERC-26-0030","DOIUrl":"10.1530/ERC-26-0030","url":null,"abstract":"Apart from a few subtype-specific genetic alterations, pituitary neuroendocrine tumours (PitNETs) exhibit a limited number of recurrent genetic alterations, emphasising the pivotal role of epigenetic dysregulation in their pathogenesis. DNA methylation has been widely investigated in PitNETs and has been associated with tumour subtypes, tumour biology, and clinical outcome. Most studies use methodologies that cannot distinguish between methylation and active demethylation. DNA methylation is a dynamic and reversible process, governed by a tightly regulated cycle involving 5-methylcytosine and its oxidised derivatives - particularly 5-hydroxymethylcytosine - which have opposing effects on gene regulation. Failure to resolve these cytosine modifications may, therefore, obscure biologically relevant mechanisms and may contribute to inconsistent findings across studies. This mini-review critically examines the DNA methylation-demethylation cycle in PitNETs, discusses the challenges of accurately detecting cytosine modifications, and summarises the emerging evidence, linking altered demethylation dynamics to tumour differentiation, proliferation, and aggressiveness. We also highlight the therapeutic relevance of targeting epigenetic regulators, such as DNA methyltransferases, TET enzymes, and associated co-factors, and review data supporting both traditional epigenetic drugs and repurposed agents. Finally, we discuss future perspectives, including the potential of liquid biopsy-based methylation profiling and advanced sequencing technologies to improve PitNET classification, prognostication, and therapeutic stratification in the near future.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147694298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RET receptor tyrosine kinase architecture, assemblies, and activation. RET受体酪氨酸激酶结构、组装和激活。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-17 Print Date: 2026-04-01 DOI: 10.1530/ERC-25-0322

Mia Zol-Hanlon, Neil Q McDonald

引用次数: 0

Breast cancer metastasis in obesity: extracellular vesicles as drivers. 肥胖乳腺癌转移：细胞外囊泡驱动因素。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-15 Print Date: 2026-04-01 DOI: 10.1530/ERC-25-0312

Isadora Ramos-Andrade, Carolinne Souza Amorim, Luiz Gabriel Xavier Botelho, Victor Aguiar Franco, Isabelle Karine da Costa Nunes, Luiz Guilherme Kraemer-Aguiar, Yasmin Forte, Georgia C Atella, João Alfredo Moraes, Christina Barja-Fidalgo, Mariana Renovato-Martins

{"title":"Breast cancer metastasis in obesity: extracellular vesicles as drivers.","authors":"Isadora Ramos-Andrade, Carolinne Souza Amorim, Luiz Gabriel Xavier Botelho, Victor Aguiar Franco, Isabelle Karine da Costa Nunes, Luiz Guilherme Kraemer-Aguiar, Yasmin Forte, Georgia C Atella, João Alfredo Moraes, Christina Barja-Fidalgo, Mariana Renovato-Martins","doi":"10.1530/ERC-25-0312","DOIUrl":"10.1530/ERC-25-0312","url":null,"abstract":"Abstract: Obesity, a significant risk factor for breast cancer, contributes to tumor progression by releasing proinflammatory adipokines through extracellular vesicles (EVs) secreted by adipose tissue (AT). These EVs, which are small membrane vesicles, have the potential to modulate tumor cell behavior, yet the mechanisms underlying this communication remain largely unclear. This study investigates how EVs derived from obese AT influence malignancy-related processes in MCF-7 breast cancer cells. To assess the effects of obese AT-EVs on MCF-7 cells, EVs were isolated from the AT secretome obtained from obese and lean individuals (control group). MCF-7 cells were stimulated with these EVs, and subsequent analyses were performed to assess changes in cellular functions, epithelial marker expression, and signaling pathways. Obese AT-derived EVs exhibited significantly elevated levels of TGF-β, leading to activation of the TGF-β/SMAD signaling pathway. This activation resulted in reduced E-cadherin expression and enhanced migration and invasiveness of MCF-7 cells. Additionally, these EVs were enriched in fatty acids, which fueled the tumor cells via fatty acid oxidation (FAO), further contributing to their migratory capacity. This study identifies TGF-β signaling and FAO as central mechanisms by which obese adipose tissue-derived EVs promote a metastatic phenotype in breast cancer cells. These findings provide insight into the molecular crosstalk between obesity and breast cancer and highlight potential targets for therapeutic intervention.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reproductive and sexual sequelae of neuroendocrine tumour therapies: an under-recognised challenge. 神经内分泌肿瘤治疗的生殖和性后遗症：一个未被认识到的挑战。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-15 Print Date: 2026-04-01 DOI: 10.1530/ERC-25-0500

Kalyan Mansukhbhai Shekhda, Preet Mukesh Shah, Aiyappa Biddanda, Ashley Grossman, Martyn Caplin

{"title":"Reproductive and sexual sequelae of neuroendocrine tumour therapies: an under-recognised challenge.","authors":"Kalyan Mansukhbhai Shekhda, Preet Mukesh Shah, Aiyappa Biddanda, Ashley Grossman, Martyn Caplin","doi":"10.1530/ERC-25-0500","DOIUrl":"10.1530/ERC-25-0500","url":null,"abstract":"Neuroendocrine tumours (NETs) are heterogeneous, biologically variable tumours arising from the diffuse neuroendocrine system. While more frequently seen in older patients, the incidence and prevalence of NETs in the younger population are increasing. In addition, because of their generally slow progression and favourable prognosis, coupled with widely available effective treatments, survival times even with metastatic tumours may often be prolonged. However, there is a paucity of data on the effect of treatment of NETs on men's and women's reproductive and sexual health. In this review, we have evaluated the effects of NET therapies, including somatostatin analogues (SSTAs), molecular targeted therapy (everolimus and sunitinib), peptide receptor radionuclide therapy (PRRT), and chemotherapy, on reproductive and sexual function in patients with NETs. There is a lack of evidence on the detrimental effects of SSTAs on human fertility, and indeed, many patients have conceived successfully after many years of treatment with SSTAs. Even patients who have received SSTAs during pregnancy have generally shown positive maternal and fetal outcomes. While the effects of PRRT and molecular targeted therapy on fertility are as yet poorly defined, chemotherapy has a proven negative impact on fertility; thus, family and pregnancy planning are strongly recommended before the initiation of chemotherapy. Finally, data on the effects of NET treatment on sexual function are very limited; however, neuroendocrine tumours can express oestrogen receptors/progesterone receptors (ER/PR) or testosterone receptors (TR); thus, checking tumour tissue for ER/PR/TR status prior to considering hormonal therapy for sexual dysfunction should be considered but warrants additional studies.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13097117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597019","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

Characterization of small intestinal neuroendocrine tumorlets. 小肠神经内分泌肿瘤的特征。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-13 Print Date: 2026-04-01 DOI: 10.1530/ERC-25-0425

Akitada Yogo, Naoki Akanuma, Grace E Kim, Alan Paciorek, Li Zhang, Phi Le, Kenzo Hirose, Carlos U Corvera, Emily K Bergsland, Eric K Nakakura

{"title":"Characterization of small intestinal neuroendocrine tumorlets.","authors":"Akitada Yogo, Naoki Akanuma, Grace E Kim, Alan Paciorek, Li Zhang, Phi Le, Kenzo Hirose, Carlos U Corvera, Emily K Bergsland, Eric K Nakakura","doi":"10.1530/ERC-25-0425","DOIUrl":"10.1530/ERC-25-0425","url":null,"abstract":"Small intestine neuroendocrine tumors (SI-NETs) frequently present as multifocal primaries. We commonly observe microscopic lesions in the superficial layer of the small intestine of SI-NET patients. We aimed to define them as small intestinal neuroendocrine tumorlets (SINTs) and explore their clinical and biological significance. Twenty multifocal and twenty unifocal SI-NETs patients who received resection at a single institution were retrospectively reviewed. Four hundred and forty six archived pathological slides were examined for microscopic lesions located in the lamina propria, muscularis mucosa, and superficial submucosa. Clinicopathological associations and progression-free survival were analyzed. Previously published genomic data were re-analyzed. SINTs were identified in 50% of multifocal and 30% of unifocal SI-NET patients. Median SINT size was 95 μm, with a median distance of 2.2 mm from the nearest mass. Compared to the 'true unifocal' group (unifocal without SINT), the 'multifocal-spectrum' group (multifocal or unifocal with SINT) had higher BMI (median: 27.6 vs 22.8, P = 0.0060), higher rates of perineural invasion (OR: 5.5, P = 0.044), larger mesenteric mass (median: 2.6 vs 1.6 cm, P = 0.034), and more advanced pT stage (pT3 or pT4, OR: 7.2, P = 0.018). Genomic re-analysis suggested that 13% of cells in multifocal primary tumors could share clonal origins, possibly indicating clonal spread via SINTs. SINTs may serve as a new biomarker for multifocal spectrum with local aggressiveness. The actual frequency of multifocal SI-NET may be higher than currently recognized in clinical practice. Further studies are needed to validate their prognostic and biological significance.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13097121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147523302","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

Clinical relevance of HRD score in pheochromocytomas and paragangliomas: molecular cluster distribution and prognostic implications. HRD评分在嗜铬细胞瘤和副神经节瘤中的临床意义：分子簇分布和预后意义。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-01 DOI: 10.1530/ERC-25-0301

Yue Zhou, Yunying Cui, Wenqian Zhang, Tianyi Li, Anli Tong

{"title":"Clinical relevance of HRD score in pheochromocytomas and paragangliomas: molecular cluster distribution and prognostic implications.","authors":"Yue Zhou, Yunying Cui, Wenqian Zhang, Tianyi Li, Anli Tong","doi":"10.1530/ERC-25-0301","DOIUrl":"10.1530/ERC-25-0301","url":null,"abstract":"Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with variable metastatic potential across molecular clusters. While the homologous recombination deficiency (HRD) score has been established as a surrogate for HRD-related genomic instability to guide prognostic evaluation and therapeutic options in multiple solid tumors, its relevance in PPGLs remains unexplored. Here, data from 133 PPGL patients in the TCGA database were extracted to assess relationships between the HRD score and molecular clusters, metastasis, metastasis-free survival (MFS), and other clinical characteristics. Subsequently, a real-world cohort of 54 matched blood-tumor pairs was subjected to whole-exome sequencing, with HRD scores calculated to confirm the prior observations. The median HRD score was 7.0 and 9.0 in the TCGA-PPGL dataset and the clinical cohort, respectively. In the TCGA dataset, an elevated HRD score significantly correlated with metanephrine secretion, C2 cluster, and metastasis. Multivariate analysis identified a higher HRD score as an independent risk factor for shorter MFS (HR = 1.33, P = 0.008). Patients with HRD scores ≥ 7 exhibited significantly shorter MFS (P = 0.037), which was observed exclusively within the C1A cluster (P = 0.007). Analyses of our clinical validation cohort corroborated this cluster-specific distribution and further revealed higher HRD scores in three temozolomide-treated PPGLs compared with those treatment-naive C1A tumors (P = 0.043). In conclusion, despite exhibiting lower levels in C1A clusters, an elevated HRD score emerges as a promising indicator for refined metastatic risk stratification in PPGLs. Futhermore, the substantial increase in HRD score following temozolomide treatment provides a rationale for PARP inhibitor sequential or combination therapy in metastatic PPGLs.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147482905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ageing and pituitary neuroendocrine tumours (PitNETs): from bench to bedside. 衰老与垂体神经内分泌肿瘤（PitNETs）：从实验室到床边。

IF 4.6

Endocrine-related cancer Pub Date : 2026-04-01 DOI: 10.1530/ERC-25-0535

Dario De Alcubierre, Francesca Carbonara, Tiziana Feola, Francesca Gianno, Giuseppe Minniti, Vincenzo Esposito, Marie-Lise Jaffrain-Rea

{"title":"Ageing and pituitary neuroendocrine tumours (PitNETs): from bench to bedside.","authors":"Dario De Alcubierre, Francesca Carbonara, Tiziana Feola, Francesca Gianno, Giuseppe Minniti, Vincenzo Esposito, Marie-Lise Jaffrain-Rea","doi":"10.1530/ERC-25-0535","DOIUrl":"10.1530/ERC-25-0535","url":null,"abstract":"Abstract: The prevalence of pituitary neuroendocrine tumours (PitNETs) in elderly people (≥65 years old) is raising with life expectancy. Despite an increasing incidental detection on neuroimaging for unrelated conditions, a large majority are macrotumours (≥1 cm) and mass effects are frequent, in particular visual defects. Clinically non-functioning PitNETs are the most prevalent (about 75%), and a majority are gonadotrophs. The clinical presentation of functioning PitNETs differ from younger patients and include somatotroph tumours - often intrasellar with mild acromegaly, prolactinomas - often large and invasive, and rare corticotroph and uncommon thyrotroph tumours. Such epidemiological characteristics likely reflect different biological features as compared with PitNETs diagnosed in younger patients. Epigenetic alterations are more frequent than mutations, whereas cell senescence and age-related changes in immune surveillance and feedback mechanisms from ageing target organs may play an underestimated role. Endocrinological changes associated with ageing and concomitant pathological conditions should be considered as relevant confounding factors for diagnosis. In particular, ocular diseases may mask visual defects, progressive symptoms of hypopituitarism may be misinterpreted as ageing, and peripheral physiological (menopause) or pathological dysfunction or drugs given for other diseases can alter pituitary hormone secretion. Mild hypersecretion should be searched for in clinically non-functioning cases, as it may significantly impact on clinical management. Multidisciplinary evaluation is necessary to define personalized therapeutic goals, and where indicated, surgery should be performed by experienced pituitary surgeons. The development of innovative diagnostic and prognostic markers would usefully support the clinical management and follow-up of PitNETs in elderly patients.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147482920","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

Adrenocortical carcinoma as a manifestation of Birt-Hogg-Dubé syndrome. 肾上腺皮质癌是Birt-Hogg dub<s:1>综合征的一种表现。

IF 4.6

Endocrine-related cancer Pub Date : 2026-03-30 Print Date: 2026-03-01 DOI: 10.1530/ERC-25-0285

Katherine I Wolf, Jenae Osborne, Antonio M Lerario, Josh N Vo, Oksana Hamidi, Mouhammed Amir Habra, Gary Hammer, Tobias Else

{"title":"Adrenocortical carcinoma as a manifestation of Birt-Hogg-Dubé syndrome.","authors":"Katherine I Wolf, Jenae Osborne, Antonio M Lerario, Josh N Vo, Oksana Hamidi, Mouhammed Amir Habra, Gary Hammer, Tobias Else","doi":"10.1530/ERC-25-0285","DOIUrl":"10.1530/ERC-25-0285","url":null,"abstract":"Birt-Hogg-Dubé syndrome (BHDS) is characterized by fibrofolliculomas, trichodiscomas, renal tumors, lung cysts, and spontaneous pneumothoraces. Other than renal cell carcinoma, no cancers have been confirmed as part of the BHDS tumor spectrum. Here, we set out to uncover if adrenocortical carcinoma (ACC) is associated with BHDS. A retrospective review at a single tertiary care center between 2010 and 2024 was performed using search terms describing the clinical manifestations of BHDS, adrenal tumors, and iterations thereof. The initial review identified 1,010 patients with ACC. Of these patients, 466 were evaluated by a genetic counselor, and 346 underwent genetic testing-seven of which were found to have either characteristic clinical features of BHDS or a confirmed diagnosis. The literature review over the same time period demonstrated five additional cases of malignant adrenal tumors in patients with BHDS. We observed BHDS, confirmed by a pathogenic FLCN variant in 0.7% of all ACC patients, or 1.5% of patients evaluated by a genetic counselor and 2.0% of all patients who underwent genetic testing. Testing for FLCN pathogenic variants should be considered during routine genetic evaluation of patients with ACC, and special attention should be paid to adrenal tumors in BHDS patients during surveillance for renal neoplasms as more than 50% of patients in this series developed metastatic disease.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13182339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147470538","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