Pituitary最新文献

{"title":"The assessment of thiol-disulfide homeostasis and ıschemia-modified albumin levels in patients with acromegaly.","authors":"Emre Urhan, Canan Sehit Kara, Esra Fırat Oguz, Salim Neselioglu, Ozcan Erel, Hamiyet Donmez Altuntas, Fahri Bayram","doi":"10.1007/s11102-025-01519-y","DOIUrl":"10.1007/s11102-025-01519-y","url":null,"abstract":"<p><strong>Purpose: </strong>Data regarding the relationship between acromegaly and oxidative stress (OS) remain limited. Dynamic thiol-disulfide homeostasis (TDH) is vital for antioxidant protection, and ischemia-modified albumin (IMA) serves as a marker of OS. This study aimed to measure serum TDH parameters and IMA levels in acromegaly patients, comparing them with healthy controls.</p><p><strong>Methods: </strong>This cross-sectional study consecutively included 81 patients and 55 controls, matched for age, gender, and body mass index. Serum levels of native thiol, total thiol, and disulfide (TDH parameters) were measured using the automated spectrophotometric method developed by Erel and Neselioglu, along with serum IMA levels.</p><p><strong>Results: </strong>In patients, serum native and total thiol levels were significantly lower (p = 0.005 and p = 0.007), while serum IMA levels were significantly higher (p = 0.001). Disulfide levels were similar. Patients with active disease (N = 32), patients in remission (N = 49), and controls (N = 55) were compared. In post-hoc analyses; serum TDH parameters and IMA levels were similar in remission and active disease patients. Native and total thiol levels were significantly lower in patients in remission compared to controls (p = 0.01 and p = 0.04). IMA levels were significantly higher in patients in remission compared to controls (p = 0.04). Serum thiol levels positively correlated with serum insulin-like growth factor-1 levels and negatively with age and disease duration, while age independently exerted a negative impact on serum thiol levels.</p><p><strong>Conclusion: </strong>Our findings may indicate increased OS in the acromegalic process, which may contribute to the development of acromegaly and its related complications and comorbidities.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"46"},"PeriodicalIF":3.3,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788654","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}

{"title":"Clinical, surgical, and endocrine outcome following treatment of posterior pituitary tumors: a retrospective cohort study.","authors":"Natalia Kremenevski, Oliver Schnell, Roland Coras, Michael Buchfelder, Nirjhar Hore","doi":"10.1007/s11102-025-01518-z","DOIUrl":"10.1007/s11102-025-01518-z","url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluates the clinical presentation, endocrine dysfunction, surgical outcome, and long-term prognosis in patients with histologically confirmed posterior pituitary tumors (PPTs).</p><p><strong>Methods: </strong>A retrospective cohort study was conducted on 19 patients treated for PPTs at a single center between 2000 and 2023. Data on clinical, endocrine, and surgical outcomes were collected and analyzed.</p><p><strong>Results: </strong>The cohort included 3 pituicytomas (PCs), 8 granular cell tumors (GCTs), and 8 spindle cell oncocytomas (SCOs) patients, with a female predominance (58%) and a mean age of 57.2 ± 13.2 years. Symptoms leading to diagnosis were headache (31.6%), visual impairment (21%), and sexual dysfunction (10.5%). GCT patients had higher preoperative BMI (34.49 ± 5.72) compared to PC (22.12 ± 2.40) and SCO (24.74 ± 4.24) patients (p < 0.01). Postoperative BMI increased across all groups, with GCTs patients showing the steepest rise (p < 0.01). Endocrine dysfunction largely persisted or worsened after surgery, with limited recovery at follow-up. Surgical approaches included transsphenoidal (48%) and transcranial (52%), achieving gross total resection in 58% of cases. Tumor recurrence occurred in 16% of patients, all requiring adjuvant radiation therapy. Tumor-specific survival at 5 years was 100% with an overall survival rate of 80% where non-tumor-related comorbidities accounted for the observed mortality.</p><p><strong>Conclusion: </strong>PPTs are rare tumors with significant endocrine and metabolic consequences. While surgical management is associated with favorable tumor-specific survival, persistent endocrine dysfunction and postoperative progressive BMI underscore the need for long-term follow-up and targeted interventions. These findings contribute to the understanding of PPT biology and support the development of optimized management strategies.</p>","PeriodicalId":20202,"journal":{"name":"Pituitary","volume":"28 2","pages":"45"},"PeriodicalIF":3.3,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788443","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}

{"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":"https://doi.org/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}

{"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}

{"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}

{"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 Chi²-, 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}

{"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}

{"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":"https://doi.org/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}

{"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}

{"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}