Endocrine-related cancer最新文献_第7页

Ampullary composite gangliocytoma/neuroma and neuroendocrine tumor management. 壶腹复合神经节细胞瘤/神经瘤和神经内分泌肿瘤的治疗。

Endocrine-related cancer Pub Date : 2025-01-17 Print Date: 2025-03-01 DOI: 10.1530/ERC-24-0238

Elias Karam, Marcus Hollenbach, Christian Heise, Einas Abou Ali, Aiste Gulla, Francesco Auriemma, Benoît Terris, François R Souche, Charles de Ponthaud, Thomas Hank, Fabrice Caillol, Rami Rhaiem, Alain Sauvanet, Bertrand Napoléon, Sara Regner, Sébastien Gaujoux

{"title":"Ampullary composite gangliocytoma/neuroma and neuroendocrine tumor management.","authors":"Elias Karam, Marcus Hollenbach, Christian Heise, Einas Abou Ali, Aiste Gulla, Francesco Auriemma, Benoît Terris, François R Souche, Charles de Ponthaud, Thomas Hank, Fabrice Caillol, Rami Rhaiem, Alain Sauvanet, Bertrand Napoléon, Sara Regner, Sébastien Gaujoux","doi":"10.1530/ERC-24-0238","DOIUrl":"10.1530/ERC-24-0238","url":null,"abstract":"Ampullary composite gangliocytoma/neuroma and neuroendocrine tumor (CoGNET), previously called ampullary gangliocytic paragangliomas, is a rare entity, with only few reported cases in the literature. This is a multicentric retrospective cohort study of patients treated with endoscopy or surgery for ampullary CoGNET. A literature review of ampullary CoGNET was also performed. Fifteen patients were included, mostly female (n = 10) with a median age of 50 years. Patients were asymptomatic in seven cases. Four patients were treated with pancreatoduodenectomy, four with transduodenal ampullectomy, and eight with endoscopic papillectomy. Clavien-Dindo III-IV complications occurred in 2 of the 8 surgical cases, but no fatal adverse events were registered. There was only one moderate endoscopic adverse event. The median length of stay was 9 days. The median tumor size was 20 mm, the R0 resection rate was 93.8%, and two patients had nodal involvement. After a median follow-up of 29 months, there was no local or distant recurrence nor death from disease. The literature review confirmed the clinical presentation and excellent outcomes of ampullary CoGNET management, especially regarding survival, even for patients with nodal or distant metastases. Overall, ampullary CoGNET are rare tumors with excellent prognosis, even with incomplete resection or nodal involvement. Treatment should be as minimally invasive as possible, and a long-term follow-up is needed.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916724","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

Needle tract seeding of thyroid cancer after biopsy of distant metastasis: a retrospective cohort. 甲状腺癌远处转移活检后的针道播种：一个回顾性队列。

Endocrine-related cancer Pub Date : 2025-01-17 Print Date: 2025-03-01 DOI: 10.1530/ERC-24-0263

Dana Hamadi, John J Schmitz, Chris N Gu, Hillary W Garner, Anil N Kurup, Marius N Stan

{"title":"Needle tract seeding of thyroid cancer after biopsy of distant metastasis: a retrospective cohort.","authors":"Dana Hamadi, John J Schmitz, Chris N Gu, Hillary W Garner, Anil N Kurup, Marius N Stan","doi":"10.1530/ERC-24-0263","DOIUrl":"10.1530/ERC-24-0263","url":null,"abstract":"Imaging-guided percutaneous core needle biopsy is currently the most common technique for the investigation of potentially malignant bone lesions. It allows precise needle placement and better visual guidance, leading to improved diagnostic accuracy. Needle tract seeding (NTS) is a rare complication of biopsies in general, and its true incidence remains unknown. This study aimed to assess the risk of NTS in patients with thyroid cancer who underwent bone biopsy. For our cohort, we extracted data from the electronic medical record at the Mayo Clinic in Rochester (Minnesota, USA). Inclusion criteria included patients with a history of thyroid cancer who underwent biopsy for bone metastasis between 1/1/2014 and 10/1/2023. We identified a cohort of 20 patients that fit our inclusion criteria. Of these 20 patients, 2 patients developed NTS after CT-guided bone biopsy. Cases of seeding had a larger tumor size, a more aggressive histopathological presentation, a significantly shorter duration between cancer diagnosis and bone metastasis, and underwent more tumor manipulation procedures, such as biopsy and radiofrequency ablation, in contrast to those without seeding. In conclusion, our study identified NTS to have an incidence of 10% after biopsies of bone metastasis related to thyroid carcinoma. These are likely the result of an interplay of risk factors, including tumor biology, penetrated tissues and procedural technical details. Further studies with larger sample sizes are needed to confirm our findings and identify strategies to mitigate NTS.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924302","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

Systems-level liquid biopsy in advanced prostate cancer. 晚期前列腺癌的系统级液体活检。

Endocrine-related cancer Pub Date : 2025-01-17 Print Date: 2025-03-01 DOI: 10.1530/ERC-24-0274

Jacqueline Lyman, Scott M Dehm

{"title":"Systems-level liquid biopsy in advanced prostate cancer.","authors":"Jacqueline Lyman, Scott M Dehm","doi":"10.1530/ERC-24-0274","DOIUrl":"10.1530/ERC-24-0274","url":null,"abstract":"Treatment for castration-resistant prostate cancer (CRPC) primarily involves suppression of androgen receptor (AR) activity using androgen receptor signaling inhibitors (ARSIs). While ARSIs have extended patient survival, resistance inevitably develops. Mechanisms of resistance include genomic aberrations at the AR locus that reactivate AR signaling or lineage plasticity that drives emergence of AR-independent phenotypes. Given the diverse mechanisms of ARSI resistance in CRPC, there is a need for more effective monitoring strategies that detect signs of resistance to inform prognosis and guide use of alternative therapies. Liquid biopsy is a blood test that has emerged as a powerful, minimally invasive tool for investigating advanced cancer. In CRPC, liquid biopsy has been shown to reflect genomic and transcriptomic features in tumor tissue and has been utilized to detect an array of resistance signatures. Liquid biopsy is uninhibited by spatial restrictions and allows for longitudinal monitoring of disease progression. However, current clinical liquid biopsy tests provide limited actionable information. This review highlights recent advancements to the understanding of mechanisms driving treatment resistance in CRPC through research-grade liquid biopsy assays. We explore novel methods of disease characterization developed using liquid biopsy and emphasize the clinical potential of a multi-omics molecular profiling approach to comprehensively detect emerging therapeutic resistance. Routine assessment of therapy resistance using a liquid biopsy assay has the potential to enhance prognostication and improve outcomes of men with CRPC.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924304","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

Bone metastasis in endocrine-related cancer: unravelling invasion and destruction. 内分泌相关肿瘤的骨转移：揭示侵袭与破坏。

Endocrine-related cancer Pub Date : 2025-01-11 Print Date: 2025-02-01 DOI: 10.1530/ERC-24-0294

Huong Q Duong, Georgia Kafer, Michelle Maugham-Macan

{"title":"Bone metastasis in endocrine-related cancer: unravelling invasion and destruction.","authors":"Huong Q Duong, Georgia Kafer, Michelle Maugham-Macan","doi":"10.1530/ERC-24-0294","DOIUrl":"10.1530/ERC-24-0294","url":null,"abstract":"Bone is a common and debilitating site for metastatic cancer cell expansion. Skeletal metastasis is a multistage process, with primary stages of circulating tumour cells, progressing to a dormant state in vasculature and bone marrow niches, followed by tumourigenic reactivation, proliferation and finally bone destruction. The frequency of bone metastasis is reconciled in Paget's 'seed and soil' hypothesis, where a conducive microenvironment (bone niche) is essential for cancer cell colonisation. Cancer cells can mimic bone cells (osteomimicry) and interact with the bone marrow's vascular architecture, utilising pathways akin to haematopoietic stem cell expansion. Current research suggests that each phase of bone metastasis is associated with specific gene expression and protein abundance patterns. For example, E-selectin, CXCR-4 and CXCL-12 are crucial for cancer cell homing, dormancy and colonisation of bone tissue. In contrast, different primary cancers appear to have unique staging profiles. In prostate cancer, dormancy is modulated by the CXCR-4/CXCL-12, ANXA2/CXCL12 and GAS6 pathways, while in breast cancer, dormancy involves ERK1/2, p38, MSK1, LIF, BMP-7, TGF-β1/2 and bone resorption factors. Conversely, osteoblastic metastasis in both breast and prostate cancers is characterised by ET-1, Dkk1 suppression and the release of IL-6, MCP-1, VEGF, FGF and IGF, while osteolytic metastasis primarily depends on PTHrP, RANKL, OPG, TGF-β, IGF, TNF-α, IL-1 and IL-7. Understanding the complex molecular mechanisms facilitating cancer cell colonisation and expansion in bone tissues is essential for developing effective treatments to prevent bone metastases. In this review, we discuss current theories linking bone remodelling with bone.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857374","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

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

Activation of the HIF1α/TIMP1/MT6-MMP pathway is associated with invasion in pituitary null cell adenomas. HIF1α/TIMP1/MT6-MMP通路的激活与垂体空细胞腺瘤的侵袭有关。

Endocrine-related cancer Pub Date : 2025-01-10 Print Date: 2025-02-01 DOI: 10.1530/ERC-24-0146

Shengyuan Yu, Quanxi Duan, Changcun Niu, Chengzhi Mu

{"title":"Activation of the HIF1α/TIMP1/MT6-MMP pathway is associated with invasion in pituitary null cell adenomas.","authors":"Shengyuan Yu, Quanxi Duan, Changcun Niu, Chengzhi Mu","doi":"10.1530/ERC-24-0146","DOIUrl":"10.1530/ERC-24-0146","url":null,"abstract":"Non-functioning pituitary adenomas (NFPAs) are a highly heterogeneous group and often show invasion, but few studies have explored the invasion mechanism and biomarkers for specific subtypes. This study was designed to describe the role of HIF1α and its downstream genes in specific subtypes of NFPAs. Specimens were classified into two subtypes of NFPAs: 46 null cell adenomas (28 invasive and 18 noninvasive) and 46 oncocytomas (11 invasive and 35 noninvasive). HIF1α, TIMP1, MT6-MMP, ECAD and NCAD were detected by qRT-PCR, western blot or immunohistochemistry in tumor tissue. The transwell assay was performed to measure the effects of HIF1α on tumor cell invasion in GH3 and GT1-1 cells. TIMP1, MT6-MMP, ECAD and NCAD were detected by western blot in HIF1α overexpressed GT1-1 cells. HIF1α mRNA and protein level was significantly upregulated in invasive pituitary null cell adenomas but not in invasive pituitary oncocytoma. The TIMP1 mRNA and protein level was significantly downregulated and MT6-MMP mRNA and protein level was significantly upregulated in invasive pituitary null cell adenomas. Meanwhile, there were no significant differences in epithelial-mesenchymal transition (EMT) markers, ECAD and NCAD, between invasive and noninvasive pituitary null cell adenomas. The overexpression of HIF1α promoted the invasive capability of pituitary adenoma cells in vitro. Regarding the molecular mechanism, HIF1α overexpression could downregulate TIMP1 and upregulate MT6-MMP expression levels but did not affect EMT markers' expression. Our results suggested that HIF1α might contribute to the invasion of pituitary null cell adenomas through activating HIF1α/TIMP1/MT6-MMP pathway but not EMT.","PeriodicalId":93989,"journal":{"name":"Endocrine-related cancer","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820471","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

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