Pituitary最新文献

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Genetic models of Cushing's disease : From cells, in vivo transgenic models to human pituitary organoids. 库欣病的遗传模型:从细胞、体内转基因模型到人类垂体类器官。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-04-05 DOI: 10.1007/s11102-025-01516-1
Hiba Hashmi, Ryusaku Matsumoto, Dylan Corcoran, Yasuhiko Kawakami, Takako Araki
{"title":"Genetic models of Cushing's disease : From cells, in vivo transgenic models to human pituitary organoids.","authors":"Hiba Hashmi, Ryusaku Matsumoto, Dylan Corcoran, Yasuhiko Kawakami, Takako Araki","doi":"10.1007/s11102-025-01516-1","DOIUrl":"10.1007/s11102-025-01516-1","url":null,"abstract":"<p><p>Cushing's disease (CD) is caused by pituitary tumors that overproduce adrenocorticotropic hormone (ACTH); however, effective medical treatments remain limited, significantly impairing patients' quality of life and prognosis. Despite extensive molecular analyses, the pathogenesis of CD remains unclear. Although previous molecular studies have relied heavily on rodent-derived cells and rodent transgenic models, significant species differences exist in the tumorigenesis of CD between humans and rodents. To date, an established human CD cell model is lacking, as human CD cells are limited in availability and sustainability over time. Additionally, the gene modifications used in transgenic models do not necessarily reflect the causative genes in CD. CD tumors exhibit wide phenotypic heterogeneity, which further complicates the development of an ideal genetic model. In this review, we provide an analysis of 11 genetic models used to study CD, outlining their historical development, strengths, and limitations. Additionally, we discuss the ongoing development of human induced pluripotent stem cell (iPSC)-derived pituitary organoids and further describe various models of pituitary organoids as an emerging novel approach to studying CD. By comparing all these models, we highlight the necessity of advancing genetic models to improve our understanding and treatment of CD.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"47"},"PeriodicalIF":3.3,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788698","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
Prevalence and risk factors of colon polyps and other colonic lesions in acromegaly: Insights from colonoscopy screening. 结肠息肉和其他结肠病变在肢端肥大症中的患病率和危险因素:来自结肠镜筛查的见解。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-04-01 DOI: 10.1007/s11102-025-01513-4
Sema Hepşen, Enes Üçgül, Burak Menekşe, Burçak Cavnar Helvacı, Ceren Karaçalık Ünver, Halil Durantaş, Oğulcan Boz, Yusuf Coşkun, Başak Çakal, Muhammed Kızılgül, Erman Çakal
{"title":"Prevalence and risk factors of colon polyps and other colonic lesions in acromegaly: Insights from colonoscopy screening.","authors":"Sema Hepşen, Enes Üçgül, Burak Menekşe, Burçak Cavnar Helvacı, Ceren Karaçalık Ünver, Halil Durantaş, Oğulcan Boz, Yusuf Coşkun, Başak Çakal, Muhammed Kızılgül, Erman Çakal","doi":"10.1007/s11102-025-01513-4","DOIUrl":"10.1007/s11102-025-01513-4","url":null,"abstract":"<p><strong>Purpose: </strong>The existing data on colon lesions in acromegaly is notably heterogeneous. This study aimed to analyze the endoscopic and histopathological characteristics of colon polyps and other colonic lesions in acromegaly patients.</p><p><strong>Methods: </strong>This case-control study included 192 acromegaly patients and 256 controls. Colon polyps were categorized based on their size and histopathological classification. Colon malignancies and other colonic lesions, such as anal fissures, hemorrhoids, and diverticulosis, were also documented.</p><p><strong>Results: </strong>The prevalence of colon polyps was higher in the acromegaly group than in controls (p = 0.003), however, no differences were observed in the number, size, or histopathological subtypes of the polyps. Polyps in acromegaly patients were predominantly located in the distal colon and rectum. Multiple polyp locations and histopathological subtypes were more frequent in the control group (p = 0.042 and p = 0.018). Rates of low-grade dysplasia, high-grade dysplasia, and malignancy were similar between groups. Anal fissures were more common in the acromegaly group, whereas diverticulosis was less frequent (p = 0.001 and p < 0.001; respectively). Logistic regression analysis identified no significant clinical or laboratory predictors for colon polyps in acromegaly.</p><p><strong>Conclusion: </strong>Patients with acromegaly exhibited a higher prevalence of colon polyps, predominantly located in the distal colon, which typically displayed a single histopathological subtype. No increased rates of colonic dysplasia, colon cancer, or other colonic lesions were observed in patients with acromegaly, except for an elevated prevalence of anal fissures.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"44"},"PeriodicalIF":3.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754197","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
Frailty and pituitary surgery: a systematic review. 虚弱与垂体手术:系统综述。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-17 DOI: 10.1007/s11102-025-01507-2
Mendel Castle-Kirszbaum, Ann McCormack, Christopher Ovenden, Jeremy Kam, James King, Yi Yuen Wang, Tony Goldschlager
{"title":"Frailty and pituitary surgery: a systematic review.","authors":"Mendel Castle-Kirszbaum, Ann McCormack, Christopher Ovenden, Jeremy Kam, James King, Yi Yuen Wang, Tony Goldschlager","doi":"10.1007/s11102-025-01507-2","DOIUrl":"10.1007/s11102-025-01507-2","url":null,"abstract":"<p><strong>Background: </strong>Frailty is a state of physiological vulnerability rendering patients susceptible to adverse perioperative outcomes after neurosurgery. The effect of frailty on surgical success and complication rates in patients undergoing transsphenoidal pituitary surgery is unclear.</p><p><strong>Methods: </strong>A systematic review of the literature was performed in accordance with the PRISMA statement. Studies that utilised validated metrics to report the effect of frailty on pituitary surgery were included.</p><p><strong>Results: </strong>A total of 13 studies were included, comprising 124,989 patients. Frailty was exclusively assessed with cumulative deficit metrics, however there was significant heterogeneity in patient population, frailty definitions and assessment, and outcomes. Frail patients undergoing transsphenoidal surgery experienced higher rates of medical complications, resulting in longer hospital stays, greater hospitalisation costs, higher rates of unplanned readmission, more discharges to a destination other than home, and increased mortality. These outcomes directly correlated with increasing degrees of frailty. Surgical outcomes were not affected by frailty, with similar rates of biochemical remission, visual recovery, and improvement in quality of life.</p><p><strong>Conclusion: </strong>Frailty is seen in a minority of patients undergoing pituitary surgery, but is an important indicator of perioperative risk. Frailty assessment should not be used as a reason to withhold surgery, but rather to predict and mitigate perioperative complications to improve outcomes in pituitary surgery.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"43"},"PeriodicalIF":3.3,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649800","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
Psychiatric morbidity in acromegaly: a cohort study and meta-analysis of the literature. 肢端肥大症的精神发病率:一项队列研究和文献荟萃分析。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-13 DOI: 10.1007/s11102-025-01509-0
Astrid Thaarup Matthesen, Christian Rosendal, Emma H Christensen, Helga Beckmann, Frederik Østergaard Klit, Amar Nikontovic, Gustav Bizik, Peter Vestergaard, Jakob Dal
{"title":"Psychiatric morbidity in acromegaly: a cohort study and meta-analysis of the literature.","authors":"Astrid Thaarup Matthesen, Christian Rosendal, Emma H Christensen, Helga Beckmann, Frederik Østergaard Klit, Amar Nikontovic, Gustav Bizik, Peter Vestergaard, Jakob Dal","doi":"10.1007/s11102-025-01509-0","DOIUrl":"10.1007/s11102-025-01509-0","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to evaluate the risk of psychiatric disorders through a retrospective cohort study comparing acromegaly and non-functioning pituitary adenomas (NFPAs) and a meta-analysis of existing literature.</p><p><strong>Methods: </strong>The cohort study included data from patient records analyzed using Chi<sup>2</sup>-, T-tests and binary regression. The meta-analysis included studies retrieved from PubMed, Embase and PsycINFO that reported risk of psychopathology in acromegaly compared to NFPA or healthy controls, using a random effects model.</p><p><strong>Results: </strong>The study population comprised 105 acromegaly and 211 NFPA patients, with similar sex distributions. Patients with acromegaly presented with smaller pituitary adenomas (17.9 (SD: 9.9) mm vs. 22.9 (SD: 10.6) mm, p < 0.001), more frequent pituitary surgery (89.1 vs. 60.2%, p < 0.001) and hormone replacement therapy (25.7 vs. 16.1%, p = 0.042). Acromegaly patients had higher risk of depression (RR: 1.9, CI95% [1.2-3.2], p = 0.009), and increased need of admissions to the psychiatric ward (5.7 vs. 0.5%, p = 0.006). The relative risk of anxiety was 1.4 (CI95% [0.5-4.4], p = 0.53). Daily opioid use was higher in acromegaly patients with psychiatric morbidity which was associated with a diagnosis of arthropathy (p = 0.009). From the meta-analysis (8 studies, 1387 patients) an increased risk of depression (RR:1.8, CI95% [1.3-2.5]) and anxiety (RR:1.9, CI95% [1.1-3.2]) was observed in acromegaly compared to NFPAs.</p><p><strong>Conclusion: </strong>This study reveals a higher risk of psychiatric disorders in acromegaly, particularly depression and anxiety. Consequently, a need for increased psychiatric awareness in acromegaly is warranted.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"42"},"PeriodicalIF":3.3,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625588","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
Headache relief following endoscopic drainage of Rathke's cleft cyst. 内窥镜下Rathke裂隙囊肿引流后头痛缓解。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-13 DOI: 10.1007/s11102-025-01511-6
Anne Jian, Yi Yuen Wang, Tony Goldschlager, Mendel Castle-Kirszbaum, Jeremy Kam, Yi Chen Zhao, James King
{"title":"Headache relief following endoscopic drainage of Rathke's cleft cyst.","authors":"Anne Jian, Yi Yuen Wang, Tony Goldschlager, Mendel Castle-Kirszbaum, Jeremy Kam, Yi Chen Zhao, James King","doi":"10.1007/s11102-025-01511-6","DOIUrl":"10.1007/s11102-025-01511-6","url":null,"abstract":"<p><strong>Purpose: </strong>Headache is the most common presenting complaint in patients with Rathke's cleft cysts (RCC). The study aimed to assess the headache burden in patients undergoing endoscopic endonasal drainage of RCC.</p><p><strong>Methods: </strong>In this longitudinal cohort study, a prospectively collected database of patients undergoing endoscopic endonasal drainage of RCC between 2017 and 2024 was analysed. The Headache Impact Test (HIT-6) and Anterior Skull Base questionnaire (ABSQ) were collected pre-operatively and at 3 weeks, 6 weeks, 3, 6 and 12 months from July 2020.</p><p><strong>Results: </strong>64 RCC patients were identified, 24 of whom had HIT-6 scores collected pre-operatively and at least one post-operative time point. 67% had a headache pre-operatively (HIT-6 > 36). Overall, HIT-6 score reduced by 5 points at 6 months (95% CI -0.3, -9.0, p = 0.04) compared to pre-operatively, adjusted for age. In patients with headache pre-operatively, HIT-6 reduced on average by 7 and 6 points respectively at 6 and 12 months (p < 0.05). No association was found with sex, pre-operative pituitary dysfunction, cyst location, size, MRI signal, histopathological characteristics or reoperation. Overall QOL decreased within the first 6 weeks postoperatively, but returned to baseline thereafter. A higher HIT-6 score was associated with worse ABSQ at 12 months (p = 0.01).</p><p><strong>Conclusion: </strong>In the largest prospective study using a validated headache metric, endoscopic endonasal drainage of RCC may improve headache at 6 and 12 months post-operatively, providing long lasting relief. Surgery causes a transient worsening of QOL that resolves after 6 weeks. Headache burden directly correlated with QOL.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"40"},"PeriodicalIF":3.3,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625565","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
Clinical and prognostic implications of pituitary macroadenomas (PitNets) grading: a monocentric experience. 垂体大腺瘤(PitNets)分级的临床和预后意义:单中心经验。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-13 DOI: 10.1007/s11102-025-01508-1
F Ferraù, G Giuffrida, R Casablanca, Ylenia Alessi, G Tuccari, O R Cotta, F F Angileri, S Cannavò
{"title":"Clinical and prognostic implications of pituitary macroadenomas (PitNets) grading: a monocentric experience.","authors":"F Ferraù, G Giuffrida, R Casablanca, Ylenia Alessi, G Tuccari, O R Cotta, F F Angileri, S Cannavò","doi":"10.1007/s11102-025-01508-1","DOIUrl":"10.1007/s11102-025-01508-1","url":null,"abstract":"<p><strong>Rationale: </strong>Pituitary neuroendocrine tumors (PitNets), also known as pituitary adenomas, are aggressive in 20% of cases, with local invasion, relapse/scarce response to conventional treatment, in the absence of reliable predictive parameters. In 2018, Trouillas et al. proposed a 5-tier clinicopathological classification, not widely validated yet. In the present study we investigated, in a PitNets monocentric series, the correlation between this classification system and features at diagnosis and medium-term clinical and biochemical outcomes.</p><p><strong>Materials & methods: </strong>we retrospectively evaluated 88 consecutive patients (51 M, 50.5±14.7 yrs) with functioning (FPA) or non-functioning pituitary macroadenomas (NFPA), referred to the Endocrine Unit of Messina University Hospital, and operated by the same neurosurgeon in the period 2015-2020. Of each patient we reviewed recorded demographic, clinical, radiological, biochemical data and visual field, both at diagnosis/last follow-up (median 3 ± 1.5 yrs), therapeutical history, and pathological data. Once classified PitNets according to Trouillas et al. grading system, we correlated it to clinico-pathological and hormonal features at diagnosis, and to clinical, biochemical and ophthalmological outcomes at 6 months after surgery and at last follow-up.</p><p><strong>Results: </strong>According to Trouillas grading system, 38.6% of patients were assigned the 1a grade, 7.9% the 1b, 48.9% and 4.5% the 2a and 2b, respectively. At diagnosis, panhypopituitarism and visual field alterations were more frequent among 2a grade tumors. GH-omas were significantly prevalent among 1a tumors, NFPA among 2a. PitNets with 1a and 2a grade had a better response to single surgery (p < 0.01), while cyberknife stereotactic radiotherapy was needed more frequently in 2a and 2b tumors. Panhypopituitarism/visual field alterations were more frequent among 2a PitNets even after surgery. Ki-67 was positively associated to persistent disease in FPA, while radiological invasion was associated to remnant presence among NFPA.</p><p><strong>Conclusions: </strong>Invasive and not-proliferating PitNets (2a) were more frequently associated to impaired pituitary function/visual field before and after surgery. Less proliferating tumors (1a and 2a) were more responsive to surgery. Ki-67 correlated to disease persistence in FPA, while adiuvant radiotherapy was more needed among invasive tumors. Thus, among ≥ 1 cm PitNets, tumor invasion seems to impact on clinico-biochemical outcomes, while Ki-67 proliferation index influences surgical outcomes.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"41"},"PeriodicalIF":3.3,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625365","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
Cytokines and chemokines modulate the growth of pituitary adenoma/neuroendocrine tumors: preliminary results of a monocenter prospective pilot study. 细胞因子和趋化因子调节垂体腺瘤/神经内分泌肿瘤的生长:一项单中心前瞻性先导研究的初步结果
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-10 DOI: 10.1007/s11102-025-01505-4
Sabrina Chiloiro, Pier Paolo Mattogno, Flavia Angelini, Antonella Giampietro, Alessandra Vicari, Greis Konini, Federico Valeri, Amato Infante, Natalia Cappoli, Rosalinda Calandrelli, Liverana Lauretti, Simona Gaudino, Marco Gessi, Guido Rindi, Alessandro Olivi, Laura De Marinis, Antonio Bianchi, Francesco Doglietto, Alfredo Pontecorvi
{"title":"Cytokines and chemokines modulate the growth of pituitary adenoma/neuroendocrine tumors: preliminary results of a monocenter prospective pilot study.","authors":"Sabrina Chiloiro, Pier Paolo Mattogno, Flavia Angelini, Antonella Giampietro, Alessandra Vicari, Greis Konini, Federico Valeri, Amato Infante, Natalia Cappoli, Rosalinda Calandrelli, Liverana Lauretti, Simona Gaudino, Marco Gessi, Guido Rindi, Alessandro Olivi, Laura De Marinis, Antonio Bianchi, Francesco Doglietto, Alfredo Pontecorvi","doi":"10.1007/s11102-025-01505-4","DOIUrl":"10.1007/s11102-025-01505-4","url":null,"abstract":"<p><strong>Introduction: </strong>Cytokine and chemokines have been recognized to be involved in the progression and prognosis of pituitary adenoma/neuroendocrine tumors (PAs/PitNETs), also known as pituitary adenomas. We aim to investigate the expression of cytokine and chemokine in PAs/PitNETs, and their association with PAs/PitNETs clinical and biological behavior.</p><p><strong>Patients and methods: </strong>A prospective and monocenter study was performed on 16 patients diagnosed for PAs/PitNETs. Cytokine and chemokine were detected on freshly collected PAs/PitNETs samples. Tumor infiltering immune cells were investigated on formally fixed and paraffin-embedded PAs/PitNETs samples. Clinical, biochemical, molecular and morphological data were collected from patients' medical records.</p><p><strong>Result: </strong>Out of 72 patients with PAs/PitNETs that underwent surgical removal at the Neurosurgery Division of our Institution between January and June 2023, sixteen patients were enrolled in the study. Out of 42 cytokines and chemokines that we investigated, we found that the expressions of the growth-regulated oncogene (GRO)/CXCL1, thymus- and activation-regulated chemokine (TARC)/CCL17 and epidermal growth factor (EGF) were higher in invasive tumors than in not-invasive ones (respectively p = 0.01, p = 0.002 and p = 0.002). The EGF expression was higher in tumors with a MIB1 > 3% than in those with MIB1 < 3% (p = 0.014). A positive correlation was detected between the expressions of EGF and CXCL1 (p = 0.003, r: 0.7), EGF and GRO-a (p = 0.01, r:0.61), and the number of tumors infiltering CD68 + macrophages and the expression of CCL2 (p = 0.008, r = 0.695).</p><p><strong>Conclusion: </strong>Our preliminary results support that in PAs/PitNETs, the cytokines and chemokines generate an immune network, that may contribute to regulating the cell proliferation and pattern of growth.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"37"},"PeriodicalIF":3.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597608","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
FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours. FGFR1在先天性垂体功能低下和垂体肿瘤不同情况下的变异
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-10 DOI: 10.1007/s11102-025-01498-0
Andreas Orsmond, Gayathri Krishnan, Lyle J Palmer, Sunita M C De Sousa, Ann McCormack
{"title":"FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.","authors":"Andreas Orsmond, Gayathri Krishnan, Lyle J Palmer, Sunita M C De Sousa, Ann McCormack","doi":"10.1007/s11102-025-01498-0","DOIUrl":"10.1007/s11102-025-01498-0","url":null,"abstract":"<p><strong>Purpose: </strong>Pituitary tumours are relatively common, and familial in approximately 5% of cases. However, germline genetic contributions to pituitary tumour development are incompletely characterised. Preliminary evidence suggests pituitary tumours may be promoted by variants in pituitary organogenesis genes. Our study aimed to identify rare germline variants in pituitary organogenesis genes that may contribute to pituitary tumour development.</p><p><strong>Methods: </strong>A familial case of pituitary disease was investigated. We also examined 36 pituitary organogenesis genes in 134 individuals with pituitary tumours using a targeted next-generation sequencing panel, identifying and characterising variants with a population allele frequency < 0.05%.</p><p><strong>Results: </strong>One patient with a prolactin-secreting pituitary tumour and his daughter with combined pituitary hormone deficiency shared a rare germline variant in FGFR1, c.386 A > C, p.(D129A). In our broader study, we identified an additional individual with the FGFR1 D129A variant and demonstrated enrichment compared to a control population derived from the Genome Aggregation Database (gnomAD). We also observed 66 rare germline variants in pituitary organogenesis genes amongst 54/134 individuals (40%). However, compared to control data, the study cohort exhibited no enrichment for other rare variants in FGFR1, FGF-related genes, or other pituitary embryogenesis genes.</p><p><strong>Conclusion: </strong>Our results suggest that the FGFR1 D129A variant may be associated with pituitary tumorigenesis but the role of other pituitary embryogenesis genes remains unclear. Additional independent cohorts and functional studies are required.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"39"},"PeriodicalIF":3.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597639","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
Good response rates and predictors during the first year of cabergoline treatment in large invasive prolactinomas. 在卡麦角林治疗大型侵袭性泌乳素瘤的第一年,良好的反应率和预测因素。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-10 DOI: 10.1007/s11102-025-01512-5
Hayri Bostan, Bekir Ucan, Hakan Duger, Sema Hepsen, Serdar Kayihan, Alper Dilli, Ilknur Ozturk Unsal, Erman Cakal, Muhammed Kizilgul
{"title":"Good response rates and predictors during the first year of cabergoline treatment in large invasive prolactinomas.","authors":"Hayri Bostan, Bekir Ucan, Hakan Duger, Sema Hepsen, Serdar Kayihan, Alper Dilli, Ilknur Ozturk Unsal, Erman Cakal, Muhammed Kizilgul","doi":"10.1007/s11102-025-01512-5","DOIUrl":"10.1007/s11102-025-01512-5","url":null,"abstract":"<p><strong>Purpose: </strong>The factors predicting the long-term response to cabergoline are not well known, particularly in more invasive prolactinomas. This study aimed to evaluate the rate of good response (GR) (normoprolactinemia and ≥ 50% tumor shrinkage) at the one-year follow-up and to identify predictors of GR in patients with large invasive prolactinomas.</p><p><strong>Methods: </strong>This retrospective single-center study included 38 patients (32 males, 6 females; mean age 41.9 ± 12.8 years) with invasive macroprolactinomas (baseline median prolactin: 2530 (1726-5451) ng/mL, mean longest tumor diameter: 36.4 ± 12.8 mm) who were followed for at least one year under cabergoline therapy. Prolactin levels and tumor volume changes were analyzed at early and late follow-ups. Patients were classified as good responders (GRs) or poor responders (PRs) based on their first-year outcomes.</p><p><strong>Results: </strong>At the first year, 17 patients (44.7%) achieved a GR. Baseline parameters were comparable between groups, but GRs had significantly higher normoprolactinemia rates (70.6% vs. 23.8%,p = 0.004) and greater tumor shrinkage (57.3 ± 15.6% vs. 41.9 ± 21.9%,p = 0.02) at 3-6 months. An early tumor shrinkage cut-off rate of 44.9% (88% sensitivity, 62% specificity) or an early prolactin cut-off level of 30 ng/mL (75% sensitivity, 77% specificity) were identified as good predictors of GR in the first-year. All GRs maintained normoprolactinemia and ≥ 50% tumor shrinkage, while 33.3% and 42.9% of PRs failed to meet these goals, respectively, at the last visit (p = 0.009, p = 0.002). Three of PRs required surgery during follow-up.</p><p><strong>Conclusions: </strong>Approximately half of invasive prolactinoma patients achieved the composite goal within one year of cabergoline therapy. Early follow-up studies, rather than baseline characteristics, are strong predictors of treatment success.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"38"},"PeriodicalIF":3.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597648","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
Outcomes of endoscopic endonasal surgery for pediatric craniopharyngioma with a focus on morphological preservation of the pituitary stalk and endocrine functions. 儿童颅咽管瘤的鼻内窥镜手术的结果,重点是垂体柄和内分泌功能的形态学保存。
IF 3.3 2区 医学
Pituitary Pub Date : 2025-03-05 DOI: 10.1007/s11102-025-01506-3
Hiroyoshi Kino, Hiroyoshi Akutsu, Shuho Tanaka, Atsushi Iwabuchi, Takuma Hara, Yusuke Morinaga, Takeshi Hongo, Kotaro Osawa, Shingo Takano, Eiichi Ishikawa
{"title":"Outcomes of endoscopic endonasal surgery for pediatric craniopharyngioma with a focus on morphological preservation of the pituitary stalk and endocrine functions.","authors":"Hiroyoshi Kino, Hiroyoshi Akutsu, Shuho Tanaka, Atsushi Iwabuchi, Takuma Hara, Yusuke Morinaga, Takeshi Hongo, Kotaro Osawa, Shingo Takano, Eiichi Ishikawa","doi":"10.1007/s11102-025-01506-3","DOIUrl":"10.1007/s11102-025-01506-3","url":null,"abstract":"<p><strong>Purpose: </strong>Preservation of endocrine function in pediatric patients with craniopharyngioma is crucial. However, few reports of endoscopic endonasal surgery (EES) for pediatric craniopharyngiomas with intending endocrine function preservation exist. This study aimed to identify the outcomes of EES with intending preservation of pituitary stalk in pediatric patients with craniopharyngioma.</p><p><strong>Methods: </strong>Data from 22 pediatric patients with craniopharyngioma who underwent 35 EESs between 2011 and 2022 were retrospectively assessed. The tumor location (infradiaphragmatic [ID] or supradiaphragmatic [SD]) and endocrine functions were evaluated. The patients were divided into two groups: those with preoperatively preserved some endocrine function (Group P) and already completely lost endocrine function (Group ACL). Morphological preservation of the pituitary stalk (MPPS) and postoperative endocrine functional outcomes were analyzed only in the cases of Group P. Tumor recurrence was evaluated in all patients.</p><p><strong>Results: </strong>In the 35 EESs, the tumors were ID in 17 cases and SD in 18. Twenty-five cases were included in Group P and 10 in Group ACL. In Group P, MPPS was achieved in 18 (72%) cases, and postoperative preservation of some endocrine function was achieved in 14 (77.8%) of the MPPS cases. ID tumor (P < 0.001) and intraoperative MPPS (P < 0.001) were associated with postoperative preservation of some endocrine function. Intraoperative MPPS (P = 0.044) was a significantly associated risk factor for tumor recurrence.</p><p><strong>Conclusions: </strong>In EES for pediatric craniopharyngiomas, postoperative preservation of some endocrine function is achievable in ID tumors with MPPS. Therefore, preservation of endocrine function should be attempted in cases of ID tumors. However, clinicians should be aware that MPPS increases the risk of tumor recurrence.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"34"},"PeriodicalIF":3.3,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557753","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
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