Endocrine-related cancer最新文献

Sexual dimorphism in thyroid cancer: evidence from pre-clinical studies. 甲状腺癌中的两性异形：来自临床前研究的证据。

Endocrine-related cancer Pub Date : 2025-04-01 DOI: 10.1530/ERC-24-0348

Francesca Coperchini, Alessia Greco, Paolo Caccavale, Isabella Chiardi, Laura Croce, Marsida Teliti, Flavia Magri, Mario Rotondi

{"title":"Sexual dimorphism in thyroid cancer: evidence from pre-clinical studies.","authors":"Francesca Coperchini, Alessia Greco, Paolo Caccavale, Isabella Chiardi, Laura Croce, Marsida Teliti, Flavia Magri, Mario Rotondi","doi":"10.1530/ERC-24-0348","DOIUrl":"10.1530/ERC-24-0348","url":null,"abstract":"Thyroid cancer (TC) exhibits strong sexual dimorphism, with higher incidence rates observed in females and more aggressive behaviour in males. This disparity arises from complex interactions among genetic, hormonal, and environmental factors. Data from pre-clinical studies evidenced a crucial role of sex hormones in driving thyroid cancer prevalence and/or progression in male and females. In particular estrogens would play a pro-tumorigenic role by directly activating estrogen receptor (ER) pathways and indirectly influencing tumorigenesis through mechanisms such as oxidative stress modulation, stimulation of thyroid stem cell proliferation, and alterations in the tumor microenvironment (TME). Instead, androgens and androgen receptor (AR) signaling would exhibit dual roles in TC. AR downregulation in thyroid tissues is associated with increased tumor progression, whereas AR overexpression has demonstrated protective effects. These include inhibition of epithelial-to-mesenchymal transition (EMT), suppression of cell proliferation, downregulation of PD-L1 expression, and suppression of oncogenic microRNAs such as miR-146b. Conversely, androgens can promote tumor aggressiveness and metastasis in certain contexts, such as through VEGFC/VEGFR-3 signaling when specific androgen-regulated gene (SARG) is overexpressed. This review is aimed at summarizing the recent evidence coming from literature data regarding both in vitro and in vivo studies on animal models investigating the multifaceted roles of sex hormones in thyroid cancer highlighting the critical need for new prospective longitudinal studies also in view of gender affirming hormones therapy (GAHT). Such research will enhance our understanding of hormonal influences across diverse populations and further explain the relationship between sexual dimorphism and TC pathogenesis.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143805177","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

From bench to bedside in the sella: translational developments in pituitary tumour genetics. 从台架到床边的鞍座：垂体肿瘤遗传学的转化发展。

Endocrine-related cancer Pub Date : 2025-04-01 DOI: 10.1530/ERC-24-0272

Sunita M C De Sousa

{"title":"From bench to bedside in the sella: translational developments in pituitary tumour genetics.","authors":"Sunita M C De Sousa","doi":"10.1530/ERC-24-0272","DOIUrl":"10.1530/ERC-24-0272","url":null,"abstract":"The two most prevalent pituitary tumour types are pituitary adenomas (also referred to as pituitary neuroendocrine tumours or pitNETs) and craniopharyngiomas, collectively accounting for 98% of all pituitary tumours. The genetic basis of these pituitary tumours is partly understood. In pituitary adenomas, established predisposition genes in the germline setting are MEN1, PRKAR1A, AIP, CDKN1B, GPR101, and the SDHx genes, whilst somatic driver mutations are well described in GNAS predominantly in somatotrophinomas and in USP8 in corticotrophinomas. Craniopharyngiomas are not a heritable tumour but there is a clear genetic basis at the somatic level with clonal CTNNB1 and BRAF variants present in approximately 95% of adamantinomatous and papillary craniopharyngiomas, respectively. This review explores mechanistic developments in these established genes, new genes in the pituitary adenoma setting (e.g., MAX, CABLES1, CDH23, PAM, CHEK2), and emerging uses of CTNNB1/BRAF testing in the craniopharyngioma setting. It concludes with a discussion of the bench-to-bedside translations of these scientific discoveries as they pertain to clinicians seeing patients with these sellar tumours. In current clinical practice, the most readily applicable and directly impactful translations of recent pituitary genetic research are the opportunities for germline DNA testing for familial pituitary tumour syndromes and tumour DNA testing of craniopharyngiomas to confirm diagnosis (adamantinomatous/papillary craniopharyngioma) and guide treatment (in papillary craniopharyngioma).","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143805174","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

The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas. 11p15.5相关嗜铬细胞瘤和副神经节瘤的遗传变化。

Endocrine-related cancer Pub Date : 2025-03-01 DOI: 10.1530/ERC-24-0330

Pavla Jenčová, Tatiana Vosecká, Lucie Štolová, Marie Rychlá, Dagmar Voříšková, Tomas Zelinka, Zdeněk Musil, Anasuya Guha, Jaroslava Duskova, Petr Brož, Ales Vicha

{"title":"The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas.","authors":"Pavla Jenčová, Tatiana Vosecká, Lucie Štolová, Marie Rychlá, Dagmar Voříšková, Tomas Zelinka, Zdeněk Musil, Anasuya Guha, Jaroslava Duskova, Petr Brož, Ales Vicha","doi":"10.1530/ERC-24-0330","DOIUrl":"https://doi.org/10.1530/ERC-24-0330","url":null,"abstract":"Pheochromocytomas and paragangliomas are neuroendocrine tumors. The development of these tumors is associated with more than 20 genes. These genes are divided into 3 clusters: pseudohypoxic, kinase-signaling, and Wnt. The pseudohypoxic cluster is the only one that is associated with DNA methylation changes, including changes in the 11p15.5 region. The aim of this study was to identify changes in the 11p15.5 region and their frequency in pheochromocytomas and paragangliomas. And compare with genomic and somatic mutations that cluster pheochromocytomas and paragangliomas. To identify alterations in the 11p15.5 region, we used the MS-MLPA technique. The results of this assay were then compared with those obtained from the SNP array (850k, Illumina). 150 samples were examined by both techniques. A total of 90 cases (60%) exhibited no alterations in the 11p15.5 region. The most common changes were maternal allele loss in 45 cases (30%), pUPD in 5 cases (3.33%) and paternal allele gain in 4 cases (2.67%). A statistically significant difference was observed in the frequency of alterations in the 11p15.5 region when comparing cluster 1 and cluster 2 (p-value <0.0001). We found that there are other alternations in the 11p15.5 region in pheochromocytomas and paragangliomas in addition to the previously described deletion of the maternal allele. This study is the first to describe pUPD and paternal allele gain in pheochromocytomas and paragangliomas. We also show that alterations in the 11p15.5 region are not unique to cluster 1.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733688","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

Genomic testing for RET in the clinic: UK and global perspective. 临床RET的基因组检测：英国和全球视角。

Endocrine-related cancer Pub Date : 2025-03-01 DOI: 10.1530/ERC-24-0230

Louise Izatt

{"title":"Genomic testing for RET in the clinic: UK and global perspective.","authors":"Louise Izatt","doi":"10.1530/ERC-24-0230","DOIUrl":"https://doi.org/10.1530/ERC-24-0230","url":null,"abstract":"RET is a key oncogene in neuro-endocrine cancer. Pathogenic germline variants lead to multiple different phenotypes, including multiple endocrine neoplasia type 2 (MEN2), medullary thyroid cancer (MTC), Hirschsprung disease, and kidney malformations. Pathogenic somatic variants are also associated with MTC; and RET rearrangements are observed in papillary thyroid cancer, non-small cell lung cancer (NSCLC) and pan-cancer syndromes. Testing for both germline and somatic variants is now feasible in everyday clinical practice; and their identification has important clinical consequences, both for affected individuals and their families. This mini review will discuss current germline and somatic testing strategies in the UK and worldwide, reporting, and test outcomes (including variants of uncertain significance or incidental findings). It will explore actions following identification of a pathogenic germline variant, including predictive, reproductive, and childhood testing; and somatic testing of RET variants in solid tumours informing personalised cancer treatment. Lastly, it will discuss the challenge of delivering rapid and equitable access to genomic testing, to ensure that all individuals can benefit promptly and appropriately, to improve clinical outcomes.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733661","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

Factors associated with grade progression in pancreatic neuroendocrine tumors. 胰腺神经内分泌肿瘤分级进展的相关因素。

Endocrine-related cancer Pub Date : 2025-01-30 Print Date: 2025-03-01 DOI: 10.1530/ERC-24-0203

Stephanie J Wang, Wesley Kidder, Nancy M Joseph, Bryan Khuong Le, Sheila Lindsay, Farhana Moon, Eric K Nakakura, Li Zhang, Emily K Bergsland

{"title":"Factors associated with grade progression in pancreatic neuroendocrine tumors.","authors":"Stephanie J Wang, Wesley Kidder, Nancy M Joseph, Bryan Khuong Le, Sheila Lindsay, Farhana Moon, Eric K Nakakura, Li Zhang, Emily K Bergsland","doi":"10.1530/ERC-24-0203","DOIUrl":"10.1530/ERC-24-0203","url":null,"abstract":"Grade progression of well-differentiated pancreatic neuroendocrine tumors (panNETs) can occur over time, with G1/2 to G3 being the most clinically relevant form. Here, we conducted a retrospective cohort study of 66 patients with initially G1/2 panNET (median initial Ki67, 4.6%). Patients were followed up for a median 6.8 years and had a median of two metachronous tumor biopsies over their disease course. 34.8% of patients underwent any form of grade progression, including G1 to G2/3 and G2 to G3, while 24.2% demonstrated G1/2 to G3 grade progression. Over a median 2.3 years, G1/2 to G3 grade progressors experienced a median Ki67 change of +27.0% (range, +6.4 to +48.7%). Subsequent biopsies showing progression to G3 had a median Ki67 value of 31.0% (range, 21.0-60.0%) and were more often performed following suspicious clinical behavior (75.0%) rather than routinely at the time of scheduled procedure/surgery (25.0%). Similar to prior studies, G1/2 to G3 grade progressors had worse overall survival from the time of metastatic disease (median, 4.8 years vs not reached for stably G1/2 disease; P = 0.002). Heavier pretreatment and heterogeneity or lack of uptake on somatostatin receptor imaging was independently associated with progression to G3. In the largest study of metachronous panNET biopsies to date, our findings show that baseline biopsies suggesting G1/2 disease may not accurately reflect future disease status, highlighting the possible limitations of using archived tissue to stratify patients into trials and/or choose future therapy. Additional work is needed to better understand the impact of prior therapies on grade progression and how to identify which lesions to best follow up for repeat biopsy.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018137","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

ERRATUM: Autophagic blockade potentiates anlotinib-mediated ferroptosis in anaplastic thyroid cancer. ERRATUM：自噬阻断能增强安罗替尼介导的无性甲状腺癌铁蛋白沉积。

Endocrine-related cancer Pub Date : 2025-01-10 DOI: 10.1530/ERC-23-0036e

Jiajun Wu, Juyong Liang, Ruiqi Liu, Tian Lv, Kangyin Fu, Liehao Jiang, Wenli Ma, Yan Pan, Zhuo Tan, Qing Liu, Weihua Qiu, Minghua Ge, Jiafeng Wang

引用次数: 0

Association of serum steroids with survival in metastatic hormone-sensitive prostate cancer. 血清类固醇与对激素敏感的转移性前列腺癌患者生存期的关系。

Endocrine-related cancer Pub Date : 2025-01-10 Print Date: 2025-02-01 DOI: 10.1530/ERC-24-0140

Elahe A Mostaghel, Victoria Wang, Brett T Marck, Nima Sharifi, Alvin M Matsumoto, Christopher J Sweeney

{"title":"Association of serum steroids with survival in metastatic hormone-sensitive prostate cancer.","authors":"Elahe A Mostaghel, Victoria Wang, Brett T Marck, Nima Sharifi, Alvin M Matsumoto, Christopher J Sweeney","doi":"10.1530/ERC-24-0140","DOIUrl":"10.1530/ERC-24-0140","url":null,"abstract":"The CHAARTED study showed that adding docetaxel (Doc) to androgen deprivation therapy (ADT) in men initiating treatment for metastatic hormone-sensitive prostate cancer (mHSPC) prolongs survival, particularly in high-volume disease. Androgens drive both mHSPC and metastatic castration-resistant prostate cancer (mCRPC). Lower nadir serum testosterone concentrations are associated with better outcomes in men treated with ADT for biochemical relapse, while higher androgens at mCRPC are associated with better prognosis and increased benefit from abiraterone. We evaluated the association of serum steroids at 24 weeks with overall survival (OS) and time to CRPC (TTCRPC) in 588 men with available samples from the CHAARTED study. Steroid concentrations were measured using mass spectrometry. The median testosterone concentration at 24 weeks was 8 ng/dL and did not differ in ADT alone vs ADT plus Doc arm. Achieving nadir testosterone below 20 ng/dL was not associated with OS or TTCRPC in either arm. In high-volume disease, Doc conferred an OS and TTCRPC benefit regardless of steroid concentrations. In low-volume disease, steroid concentrations in the lowest quartile at 24 weeks identified a subset of men with poor survival outcomes more like high-volume disease, and in whom Doc was also associated with improved OS and TTCRPC. The known OS benefit of Doc in high-volume mHSPC is not modified by serum steroid concentrations achieved on treatment. In low-volume disease, steroid concentrations in the lowest quartile may identify a poor prognosis subset in whom Doc also confers OS benefit.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142718039","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

Mechanisms of resistance to RET-directed therapies. 对ret定向治疗的耐药机制。

Endocrine-related cancer Pub Date : 2025-01-10 Print Date: 2025-02-01 DOI: 10.1530/ERC-24-0224

Roderick J Clifton-Bligh

{"title":"Mechanisms of resistance to RET-directed therapies.","authors":"Roderick J Clifton-Bligh","doi":"10.1530/ERC-24-0224","DOIUrl":"10.1530/ERC-24-0224","url":null,"abstract":"The association between RET and multiple endocrine neoplasia type 2 was established in 1993 and remains one of the very few oncogenes for which distinct phenotypes (medullary thyroid cancer or pheochromocytoma) are associated with the same hot-spot variants occurring in either germline or somatic DNA. Somatic RET fusion events have also been described in several cancers, including papillary thyroid cancer, non-small-cell lung cancer, breast cancer, salivary gland cancer and pancreatic cancer. Highly selective RET inhibitors have improved outcomes in RET-altered cancers and have been well-tolerated. Nevertheless, primary and acquired drug resistance has been observed, arising from distinct genomic alterations either in RET (on-target resistance) or via alternate oncogenic pathways (bypass resistance). The same mechanisms of resistance have been observed across multiple cancer types, which implies RET-altered cancers evolve away from RET addiction via stochastic subclonal events. Understanding these mechanisms is crucial for identifying therapeutic opportunities to overcome resistance. Successful treatment targeting bypass oncogenes has been reported in several instances, at least for short-term outcomes; in contrast, although several compounds have been reported to overcome on-target RET alterations, none have yet been translated into routine clinical practice and this remains an area of urgent clinical need.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803956","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

Chromosomal alteration patterns in PitNETs: massive losses in aggressive tumors. PitNETs 的染色体畸变模式：侵袭性肿瘤中的大量缺失

Endocrine-related cancer Pub Date : 2024-12-19 Print Date: 2025-01-01 DOI: 10.1530/ERC-24-0070

Maaia Margo Jentus, Leontine Bakker, Marco Verstegen, Iris Pelsma, Tom van Wezel, Dina Ruano, Ellen Kapiteijn, Stijn Crobach, Nienke Biermasz, Hans Morreau

{"title":"Chromosomal alteration patterns in PitNETs: massive losses in aggressive tumors.","authors":"Maaia Margo Jentus, Leontine Bakker, Marco Verstegen, Iris Pelsma, Tom van Wezel, Dina Ruano, Ellen Kapiteijn, Stijn Crobach, Nienke Biermasz, Hans Morreau","doi":"10.1530/ERC-24-0070","DOIUrl":"10.1530/ERC-24-0070","url":null,"abstract":"The molecular biology of pituitary neuroendocrine tumors (PitNETs) revealed few recurrent mutations and extensive chromosomal alterations, with the latter being the driving force in a subset of these lesions. Addressing the need for an easily applicable diagnostic tool, we conducted a retrospective study of 61 PitNETs operated at a tertiary care center. All cases were subtyped according to the 2022 WHO Classification of Endocrine Tumors. A genome-wide next-generation sequencing panel targeting 1500 single nucleotide polymorphisms (SNPs) was used to classify chromosomal imbalances, loss of heterozygosity, and copy number variations in DNA from formalin-fixed paraffin-embedded tissues. We identified four distinct chromosomal patterns, with varying distribution among different tumor lineages. Forty-two of 61 (69%) PitNETs showed chromosomal alterations. Gonadotroph PitNETs showed mostly quiet genomes. The majority of lactotroph PitNETs (19/20, 95%) were altered, exhibiting a gained genome and a remarkably low recurrence rate. Nine of ten (90%) corticotroph PitNETs harbored chromosomal alterations, of which two aggressive corticotroph tumors and one metastatic corticotroph PitNET showed massive chromosomal losses, leading to near-haploid/near-homozygous genomes. The comparison of the molecular profile of primary and recurrent PitNETs of five patients showed no significant accumulation of alterations over time. A simple genome-wide 1500-SNP test can be used in the identification of outspoken aggressive subsets of PitNETs by the occurrence of a near-haploid/near-homozygous genome. Furthermore, the presence of neoplastic tissue in the resected material can be potentially confirmed for non-gonadotroph PitNETs under suboptimal histological assessment conditions.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515229","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

Living with a RET gene mutation: patient perspectives. 与 RET 基因突变共存：患者的观点。

Endocrine-related cancer Pub Date : 2024-12-18 Print Date: 2025-01-01 DOI: 10.1530/ERC-24-0130

Caroline Brain, Joanna Grey, Kirstie Purnell

{"title":"Living with a RET gene mutation: patient perspectives.","authors":"Caroline Brain, Joanna Grey, Kirstie Purnell","doi":"10.1530/ERC-24-0130","DOIUrl":"10.1530/ERC-24-0130","url":null,"abstract":"Multiple endocrine neoplasia type 2 (MEN2) is the collective term for two distinct types of autosomal dominantly inherited neuroendocrine neoplasm syndromes: MEN2A and MEN2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (MTC) (99%) and phaeochromocytoma (50%) and also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as four separate syndromes: classic MEN2A, MEN2A with cutaneous lichen amyloidosis, MEN2A with Hirschsprung's disease and familial MTC. MEN2B accounts for around 5% of all MEN2 cases and predisposes patients to diffuse intestinal ganglioneuromatosis, mucosal neuromas and musculoskeletal abnormalities. MEN2 is autosomal dominantly inherited, meaning that several generations in a single family may be affected by the same syndrome. We present a mini review of four case studies (×2 MEN2A and ×2 MEN2B) that illustrate the advantages of RET testing, as well as some of the likely obstacles that must be overcome to receive a diagnosis of MEN2A or MEN2B. In addition, despite improved genotype/phenotype correlation in MEN2, we highlight that not all cases are 'typical', which emphasises the need for all MEN2 patients to be cared for in a centre of expertise and experience. Some of our case study patients or their parents also took this opportunity to personally tell us more about their lives with MEN2, illustrating the need for more research into the psychosocial impact of these hereditary diseases.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549666","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