Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare, genetically related, endocrine disorders, characterized by end-organ resistance to parathyroid hormone (PTH) action and other G protein-coupled receptors (GPCRs) related hormones. The clinical variants of PHP are classified according to the presence of features of Albright's hereditary osteodystrophy (AHO) and in vivo response to exogenous PTH. Autosomal dominant PHP1b is often caused by a deletion in the syntaxin-16 (STX16) gene, leading to a loss of methylation in the A/B exon of the guanine nucleotide-binding protein a-stimulating polypeptide (GNAS) complex. Herein, we present a case of a 41-year-old man with familiar PHP1b due to a maternal inherited 3-kb STX16 deletion, who was referred to us for consultation by artificial reproductive technology specialists.
Evidence acquisition: A bibliographic search was performed in electronic databases (PubMed and Cochrane Library) to identify similar cases.
Evidence synthesis: Twenty studies (case-series or reports) were eligible. These studies included collectively 120 patients; 46 patients (38.3%) presented with symptoms of hypocalcemia; 38 were asymptomatic (31.7%); data for 36 patients (30%) were unavailable. Thyroid-stimulating hormone (TSH) resistance was documented in 25 occasions (21%); growth hormone deficiency in 2 (1.7%); 3 patients shared features of the AHO (2.5%); 6 had abnormal bone mineral density test (5%). Notable is the development of tertiary hyperparathyroidism in 3 individuals (2.5%).
Conclusions: The present review confirms the heterogeneity in the clinical spectrum of familiar PHP1b. Future research should focus on the molecular characterization of the GNAS disorders, leading to a facile diagnosis and appropriate genetic counseling.
{"title":"Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review.","authors":"Georgios Kostopoulos, Georgios Tzikos, Alexandros Sortsis, Konstantinos Toulis","doi":"10.23736/S2724-6507.20.03233-2","DOIUrl":"10.23736/S2724-6507.20.03233-2","url":null,"abstract":"<p><strong>Introduction: </strong>Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare, genetically related, endocrine disorders, characterized by end-organ resistance to parathyroid hormone (PTH) action and other G protein-coupled receptors (GPCRs) related hormones. The clinical variants of PHP are classified according to the presence of features of Albright's hereditary osteodystrophy (AHO) and in vivo response to exogenous PTH. Autosomal dominant PHP1b is often caused by a deletion in the syntaxin-16 (STX16) gene, leading to a loss of methylation in the A/B exon of the guanine nucleotide-binding protein a-stimulating polypeptide (GNAS) complex. Herein, we present a case of a 41-year-old man with familiar PHP1b due to a maternal inherited 3-kb STX16 deletion, who was referred to us for consultation by artificial reproductive technology specialists.</p><p><strong>Evidence acquisition: </strong>A bibliographic search was performed in electronic databases (PubMed and Cochrane Library) to identify similar cases.</p><p><strong>Evidence synthesis: </strong>Twenty studies (case-series or reports) were eligible. These studies included collectively 120 patients; 46 patients (38.3%) presented with symptoms of hypocalcemia; 38 were asymptomatic (31.7%); data for 36 patients (30%) were unavailable. Thyroid-stimulating hormone (TSH) resistance was documented in 25 occasions (21%); growth hormone deficiency in 2 (1.7%); 3 patients shared features of the AHO (2.5%); 6 had abnormal bone mineral density test (5%). Notable is the development of tertiary hyperparathyroidism in 3 individuals (2.5%).</p><p><strong>Conclusions: </strong>The present review confirms the heterogeneity in the clinical spectrum of familiar PHP1b. Future research should focus on the molecular characterization of the GNAS disorders, leading to a facile diagnosis and appropriate genetic counseling.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39750963","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}
Pub Date : 2024-06-01DOI: 10.23736/S2724-6507.24.04171-X
Alberto Scala, Andrea Graziani, Fabrizio Vianello, Alberto Ferlin, Andrea Garolla
Introduction: In transgender individuals assigned female at birth, testosterone therapy is employed for body masculinization. Guidelines recommend close monitoring for potential side effects of hormonal therapy, especially during the first year. Erythrocytosis is a common finding during testosterone therapy and has been associated with a potential risk of thrombotic and cardiovascular events. Currently, the hematologic effects of testosterone therapy are understudied, with existing data primarily derived from the cisgender male population. The aim of this study was to comprehensively examine the hematological changes induced by testosterone therapy in the transgender population.
Evidence acquisition: A systematic search was conducted using the electronic database PubMed.
Evidence synthesis: Thirty-six manuscripts were retrieved. After screening for original studies, 19 articles were included. Selected articles were published between 2005 and 2023.
Conclusions: In our systematic review, the prevalence of erythrocytosis varied from 0% to 29.3%, with severe erythrocytosis ranging from 0.5% to 2.3%. Testosterone therapy was associated with an increase in hemoglobin and hematocrit, particularly within the first year of therapy. Factors such as serum testosterone levels, along with the duration, doses, and formulation of testosterone therapy, were found to be associated with the development of erythrocytosis. Further research is crucial to provide specific recommendations for clinical practice.
{"title":"Risk of erythrocytosis in transgender individuals undergoing testosterone therapy: a systematic review.","authors":"Alberto Scala, Andrea Graziani, Fabrizio Vianello, Alberto Ferlin, Andrea Garolla","doi":"10.23736/S2724-6507.24.04171-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04171-X","url":null,"abstract":"<p><strong>Introduction: </strong>In transgender individuals assigned female at birth, testosterone therapy is employed for body masculinization. Guidelines recommend close monitoring for potential side effects of hormonal therapy, especially during the first year. Erythrocytosis is a common finding during testosterone therapy and has been associated with a potential risk of thrombotic and cardiovascular events. Currently, the hematologic effects of testosterone therapy are understudied, with existing data primarily derived from the cisgender male population. The aim of this study was to comprehensively examine the hematological changes induced by testosterone therapy in the transgender population.</p><p><strong>Evidence acquisition: </strong>A systematic search was conducted using the electronic database PubMed.</p><p><strong>Evidence synthesis: </strong>Thirty-six manuscripts were retrieved. After screening for original studies, 19 articles were included. Selected articles were published between 2005 and 2023.</p><p><strong>Conclusions: </strong>In our systematic review, the prevalence of erythrocytosis varied from 0% to 29.3%, with severe erythrocytosis ranging from 0.5% to 2.3%. Testosterone therapy was associated with an increase in hemoglobin and hematocrit, particularly within the first year of therapy. Factors such as serum testosterone levels, along with the duration, doses, and formulation of testosterone therapy, were found to be associated with the development of erythrocytosis. Further research is crucial to provide specific recommendations for clinical practice.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723937","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}
Pub Date : 2024-06-01DOI: 10.23736/S2724-6507.24.04238-6
Giovanni Vitale
{"title":"Highlights of the April-June 2024 issue.","authors":"Giovanni Vitale","doi":"10.23736/S2724-6507.24.04238-6","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04238-6","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723936","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}
Pub Date : 2024-06-01Epub Date: 2023-05-09DOI: 10.23736/S2724-6507.23.04034-4
Giuseppe Fanciulli, Stefania Bellino, Anna LA Salvia
{"title":"Quality of outcome reporting for clinical trails on medullary thyroid cancer registered on ClinicalTrials.gov.","authors":"Giuseppe Fanciulli, Stefania Bellino, Anna LA Salvia","doi":"10.23736/S2724-6507.23.04034-4","DOIUrl":"10.23736/S2724-6507.23.04034-4","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9801460","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}
Pub Date : 2024-05-14DOI: 10.23736/S2724-6507.24.04211-8
Patrizia Balbinot, Gianni Testino
{"title":"Lifestyle and Italian students.","authors":"Patrizia Balbinot, Gianni Testino","doi":"10.23736/S2724-6507.24.04211-8","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04211-8","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922818","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}
Pub Date : 2024-04-01DOI: 10.23736/S2724-6507.23.04108-8
P. Fierro, David Martín, E. Pariente-Rodrigo, S. Pini, Héctor Basterrechea, M. Tobalina, Benedetta Petitta, Camila Bianconi, S. Díaz-Salazar, Merelyn Bonome, C. Ramos-Barron, J. L. Hernández-Hernández
BACKGROUND COVID-19-induced diabetes is a novel and enigmatic disease. Our aim was to evaluate a possible relationship between post-COVID-19 syndrome (PCS) and increased insulin resistance (IR) in non-diabetic outpatients after mild COVID-19. METHODS Repeated measures design. Three evaluations [1E (pre-COVID, baseline), 2E (3 months post-COVID) and 3E (21 months post-COVID)] were performed, directed to PCS+ and PCS- subjects. Triglyceride-glucose (TyG) index ≥8.74 was considered IR, and albumin-to-globulin ratio (AGR) <1.50, inflammation. RESULTS We analyzed 112 individuals (median [IQR] age=44 [20] years, 58% women, 36 PCS+, 76 PCS-). PCS+ with very low basal IR (TyG <7.78, lowest quartile) showed a reduced inflammatory burden (basal AGR=1.81 [0.4] vs. 1.68 [0.2] in 2E; P=0.23), and increased TyG across evaluations (from basal 7.62 [0.2] to 8.29 [0.5]; P=0.018]. Conversely, PCS+ subjects with high basal TyG (TyG ≥8.65, highest quartile) did not show significant variations in TyG, but a greater inflammatory load (basal AGR=1.69 [0.3] vs. 1.44 [0.3] in 2E; P=0.10). In multivariable models addressing groups with reduced basal IR (TyG <8.01), PCS has been a consistent predictor for TyG, after adjusting for confounders. Partial correlation and multivariable analyses showed similarities involving acute polysymptomatic COVID-19 and PCS regarding IR. CONCLUSIONS PCS was associated with increased IR, being more evident when the baseline degree of IR was very low. PCS and increased IR were separately associated with inflammation. Acute polysymptomatic COVID-19 and PCS could be clinical expressions of underlying inflammatory state, which in turn may also trigger IR.
{"title":"Post-COVID-19 syndrome, inflammation and insulin resistance: a retrospective cohort study.","authors":"P. Fierro, David Martín, E. Pariente-Rodrigo, S. Pini, Héctor Basterrechea, M. Tobalina, Benedetta Petitta, Camila Bianconi, S. Díaz-Salazar, Merelyn Bonome, C. Ramos-Barron, J. L. Hernández-Hernández","doi":"10.23736/S2724-6507.23.04108-8","DOIUrl":"https://doi.org/10.23736/S2724-6507.23.04108-8","url":null,"abstract":"BACKGROUND\u0000COVID-19-induced diabetes is a novel and enigmatic disease. Our aim was to evaluate a possible relationship between post-COVID-19 syndrome (PCS) and increased insulin resistance (IR) in non-diabetic outpatients after mild COVID-19.\u0000\u0000\u0000METHODS\u0000Repeated measures design. Three evaluations [1E (pre-COVID, baseline), 2E (3 months post-COVID) and 3E (21 months post-COVID)] were performed, directed to PCS+ and PCS- subjects. Triglyceride-glucose (TyG) index ≥8.74 was considered IR, and albumin-to-globulin ratio (AGR) <1.50, inflammation.\u0000\u0000\u0000RESULTS\u0000We analyzed 112 individuals (median [IQR] age=44 [20] years, 58% women, 36 PCS+, 76 PCS-). PCS+ with very low basal IR (TyG <7.78, lowest quartile) showed a reduced inflammatory burden (basal AGR=1.81 [0.4] vs. 1.68 [0.2] in 2E; P=0.23), and increased TyG across evaluations (from basal 7.62 [0.2] to 8.29 [0.5]; P=0.018]. Conversely, PCS+ subjects with high basal TyG (TyG ≥8.65, highest quartile) did not show significant variations in TyG, but a greater inflammatory load (basal AGR=1.69 [0.3] vs. 1.44 [0.3] in 2E; P=0.10). In multivariable models addressing groups with reduced basal IR (TyG <8.01), PCS has been a consistent predictor for TyG, after adjusting for confounders. Partial correlation and multivariable analyses showed similarities involving acute polysymptomatic COVID-19 and PCS regarding IR.\u0000\u0000\u0000CONCLUSIONS\u0000PCS was associated with increased IR, being more evident when the baseline degree of IR was very low. PCS and increased IR were separately associated with inflammation. Acute polysymptomatic COVID-19 and PCS could be clinical expressions of underlying inflammatory state, which in turn may also trigger IR.","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140797063","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}
Pub Date : 2024-04-01DOI: 10.23736/S2724-6507.23.04099-X
R. Cannarella, Poonam Mehta, Vincenzo Garofalo, R. S. Kaiyal, Shinnosuke Kuroda, A. E. Calogero, S. Rajender
INTRODUCTION The aim of this study is to provide an updated and comprehensive systematic review on the effects of resveratrol (RSV) in male infertility and sperm preservation. EVIDENCE ACQUISITION This systematic review followed the MOOSE guidelines for Meta-analyses and Systematic Reviews of Observational Studies and the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols (PRISMA-P). Only original articles evaluating the effect of RSV on human spermatozoa in vivo or in vitro were included. EVIDENCE SYNTHESIS Of the 1806 abstracts evaluated for eligibility, only 12 studies were included in the qualitative synthesis, of which three were prospective in-vivo studies and nine were in-vitro studies. Out of three human studies on RSV, only two studies administered RSV alone, one of them reported a positive impact and the other reported no significant impact on semen parameters. Overall, the in-vitro studies have reported the ability of RSV to protect spermatozoa against damage due to freeze-thaw cycles during cryopreservation. Other in-vitro studies have reported positive effects of RSV in fresh samples and protective effects in cell lines. CONCLUSIONS Available in-vivo studies are controversial with regard to the effect of RSV in improving semen parameters. In-vitro studies support the use of RSV before sperm cryopreservation. Further well-designed prospective studies on large sample sizes are needed to fully understand the role of RSV in the treatment of male infertility in vivo.
{"title":"Resveratrol and male infertility: a systematic review of the literature.","authors":"R. Cannarella, Poonam Mehta, Vincenzo Garofalo, R. S. Kaiyal, Shinnosuke Kuroda, A. E. Calogero, S. Rajender","doi":"10.23736/S2724-6507.23.04099-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.23.04099-X","url":null,"abstract":"INTRODUCTION\u0000The aim of this study is to provide an updated and comprehensive systematic review on the effects of resveratrol (RSV) in male infertility and sperm preservation.\u0000\u0000\u0000EVIDENCE ACQUISITION\u0000This systematic review followed the MOOSE guidelines for Meta-analyses and Systematic Reviews of Observational Studies and the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols (PRISMA-P). Only original articles evaluating the effect of RSV on human spermatozoa in vivo or in vitro were included.\u0000\u0000\u0000EVIDENCE SYNTHESIS\u0000Of the 1806 abstracts evaluated for eligibility, only 12 studies were included in the qualitative synthesis, of which three were prospective in-vivo studies and nine were in-vitro studies. Out of three human studies on RSV, only two studies administered RSV alone, one of them reported a positive impact and the other reported no significant impact on semen parameters. Overall, the in-vitro studies have reported the ability of RSV to protect spermatozoa against damage due to freeze-thaw cycles during cryopreservation. Other in-vitro studies have reported positive effects of RSV in fresh samples and protective effects in cell lines.\u0000\u0000\u0000CONCLUSIONS\u0000Available in-vivo studies are controversial with regard to the effect of RSV in improving semen parameters. In-vitro studies support the use of RSV before sperm cryopreservation. Further well-designed prospective studies on large sample sizes are needed to fully understand the role of RSV in the treatment of male infertility in vivo.","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140788840","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}
Pub Date : 2024-04-01DOI: 10.23736/S2724-6507.23.04140-4
R. Modica, E. Benevento, A. Liccardi, G. Cannavale, R. Minotta, Gianfranco DI Iasi, A. Colao
Neuroendocrine neoplasms (NEN) are a heterogeneous group of malignancies with increasing incidence, whose diagnosis is usually delayed, negatively impacting on patients' prognosis. The latest advances in pathological classifications, biomarker identification and imaging techniques may provide early detection, leading to personalized treatment strategies. In this narrative review the recent developments in diagnosis of NEN are discussed including progresses in pathological classifications, biomarker and imaging. Furthermore, the challenges that lie ahead are investigated. By discussing the limitations of current approaches and addressing potential roadblocks, we hope to guide future research directions in this field. This article is proposed as a valuable resource for clinicians and researchers involved in the management of NEN. Update of pathological classifications and the availability of standardized templates in pathology and radiology represent a substantially improvement in diagnosis and communication among clinicians. Additional immunohistochemistry markers may now enrich pathological classifications, as well as miRNA profiling. New and multi-analytical circulating biomarkers, as liquid biopsy and NETest, are being proposed for diagnosis but their validation and availability should be improved. Radiological imaging strives for precise, non-invasive and less harmful technique to improve safety and quality of life in NEN patient. Nuclear medicine may benefit of somatostatin receptors' antagonists and membrane receptor analogues. Diagnosis in NEN still represents a challenge due to their complex biology and variable presentation. Further advancements are necessary to obtain early and minimally invasive diagnosis to improve patients' outcomes.
神经内分泌肿瘤（NEN）是一组发病率不断上升的异质性恶性肿瘤，其诊断通常比较迟缓，对患者的预后产生不利影响。病理分类、生物标记物鉴定和成像技术的最新进展可提供早期检测，从而制定个性化的治疗策略。在这篇叙述性综述中，讨论了 NEN 诊断的最新进展，包括病理分类、生物标志物和成像方面的进展。此外，还探讨了未来面临的挑战。通过讨论当前方法的局限性和解决潜在的路障，我们希望为该领域未来的研究方向提供指导。我们建议将这篇文章作为参与 NEN 管理的临床医生和研究人员的宝贵资源。病理分类的更新以及病理学和放射学标准化模板的可用性大大改善了诊断和临床医生之间的交流。现在，更多的免疫组化标记物和 miRNA 图谱可丰富病理分类。新的多分析循环生物标记物，如液体活检和 NETest，正在被提议用于诊断，但其验证和可用性有待改进。放射成像力求采用精确、无创和危害较小的技术，以提高 NEN 患者的安全性和生活质量。核医学可能会受益于体生长抑素受体拮抗剂和膜受体类似物。由于 NEN 的生物学特性复杂，表现形式多变，因此其诊断仍是一项挑战。为改善患者的预后，有必要进一步提高早期微创诊断水平。
{"title":"Recent advances and future challenges in the diagnosis of neuroendocrine neoplasms.","authors":"R. Modica, E. Benevento, A. Liccardi, G. Cannavale, R. Minotta, Gianfranco DI Iasi, A. Colao","doi":"10.23736/S2724-6507.23.04140-4","DOIUrl":"https://doi.org/10.23736/S2724-6507.23.04140-4","url":null,"abstract":"Neuroendocrine neoplasms (NEN) are a heterogeneous group of malignancies with increasing incidence, whose diagnosis is usually delayed, negatively impacting on patients' prognosis. The latest advances in pathological classifications, biomarker identification and imaging techniques may provide early detection, leading to personalized treatment strategies. In this narrative review the recent developments in diagnosis of NEN are discussed including progresses in pathological classifications, biomarker and imaging. Furthermore, the challenges that lie ahead are investigated. By discussing the limitations of current approaches and addressing potential roadblocks, we hope to guide future research directions in this field. This article is proposed as a valuable resource for clinicians and researchers involved in the management of NEN. Update of pathological classifications and the availability of standardized templates in pathology and radiology represent a substantially improvement in diagnosis and communication among clinicians. Additional immunohistochemistry markers may now enrich pathological classifications, as well as miRNA profiling. New and multi-analytical circulating biomarkers, as liquid biopsy and NETest, are being proposed for diagnosis but their validation and availability should be improved. Radiological imaging strives for precise, non-invasive and less harmful technique to improve safety and quality of life in NEN patient. Nuclear medicine may benefit of somatostatin receptors' antagonists and membrane receptor analogues. Diagnosis in NEN still represents a challenge due to their complex biology and variable presentation. Further advancements are necessary to obtain early and minimally invasive diagnosis to improve patients' outcomes.","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140773400","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}
Pub Date : 2024-04-01DOI: 10.23736/S2724-6507.24.04079-X
Sofia Asioli, Federica Guaraldi, M. Zoli, D. Mazzatenta, Chiara Villa
Pituitary tumors present heterogeneous biochemical, clinico-radiological, and histological features. Although histologically benign, a non-negligible number of cases present an unpredictable aggressive behavior with local invasiveness, partial/complete resistance to treatment and/or recurrence after surgery, and, rarely, metastasize, overall leading to a significant increase of morbidity, and, thus, requiring skilled multidisciplinary management in referral Centers. Histopathological diagnosis is essential to stratify cancer patient risk and uniform follow-up among Centers. Classification of pituitary neoplasia is continuously evolving in relation to the increased knowledge of mechanisms underlying adenohypophyseal cell tumorigenesis, and the attempts of combining clinico-radiological, biochemical, intraoperative, histological, and molecular elements, with the aim of identifying aggressive forms through. An integrated standardized histopathological report has been proposed in 2019 by the European Pituitary Pathology Group, based on the indications of the 2017 WHO classification of pituitary tumors. The last edition of the WHO Classification of Central Nervous System Tumors and of Endocrine and Neuroendocrine Tumors brought substantial novelties: 1) the replacement of the term "adenoma" with "Pituitary Neuroendocrine Tumor" (PitNET), and of "carcinoma" with "metastatic PitNET," and the consequent ICD-11 recoding from benign to malignant disease; and 2) the pivotal role of lineage restricted pituitary transcription factors for histological typing and subtyping. However, this approach does not reflect the spectrum of tumor phenotypes based on hormone secretion, nor include molecular features. Efforts of interdisciplinary groups of pituitary experts should be strongly encouraged to better understand factors involved in PitNETs evolution and, consequently, standardize diagnosis and reporting based on the most recent knowledges, essential to stratify cancer patient risk and uniform follow-up among centers.
{"title":"How to standardize the diagnostic approach to pituitary neuroendocrine tumors.","authors":"Sofia Asioli, Federica Guaraldi, M. Zoli, D. Mazzatenta, Chiara Villa","doi":"10.23736/S2724-6507.24.04079-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04079-X","url":null,"abstract":"Pituitary tumors present heterogeneous biochemical, clinico-radiological, and histological features. Although histologically benign, a non-negligible number of cases present an unpredictable aggressive behavior with local invasiveness, partial/complete resistance to treatment and/or recurrence after surgery, and, rarely, metastasize, overall leading to a significant increase of morbidity, and, thus, requiring skilled multidisciplinary management in referral Centers. Histopathological diagnosis is essential to stratify cancer patient risk and uniform follow-up among Centers. Classification of pituitary neoplasia is continuously evolving in relation to the increased knowledge of mechanisms underlying adenohypophyseal cell tumorigenesis, and the attempts of combining clinico-radiological, biochemical, intraoperative, histological, and molecular elements, with the aim of identifying aggressive forms through. An integrated standardized histopathological report has been proposed in 2019 by the European Pituitary Pathology Group, based on the indications of the 2017 WHO classification of pituitary tumors. The last edition of the WHO Classification of Central Nervous System Tumors and of Endocrine and Neuroendocrine Tumors brought substantial novelties: 1) the replacement of the term \"adenoma\" with \"Pituitary Neuroendocrine Tumor\" (PitNET), and of \"carcinoma\" with \"metastatic PitNET,\" and the consequent ICD-11 recoding from benign to malignant disease; and 2) the pivotal role of lineage restricted pituitary transcription factors for histological typing and subtyping. However, this approach does not reflect the spectrum of tumor phenotypes based on hormone secretion, nor include molecular features. Efforts of interdisciplinary groups of pituitary experts should be strongly encouraged to better understand factors involved in PitNETs evolution and, consequently, standardize diagnosis and reporting based on the most recent knowledges, essential to stratify cancer patient risk and uniform follow-up among centers.","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":null,"pages":null},"PeriodicalIF":4.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140777481","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}
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