当前位置: 首页 >> 检索结果
共有 475 条符合本次的查询结果, 用时 3.1418893 秒

1. [Chinese clinical practice guideline for genetic testing in advanced breast cancer (2025 edition)].

作者: .
来源: Zhonghua Zhong Liu Za Zhi. 2025年47卷10期946-960页
Breast cancer is one of the most common malignancies among women in China. According to GLOBOCAN 2022, more than 350,000 new breast cancer cases were diagnosed in China, ranking second among all newly diagnosed cancers in women. Although breast cancer has entered an era of chronic disease management and overall survival has improved substantially, the prognosis of metastatic breast cancer (MBC) remains unsatisfactory. The genome of MBC is characterized by spatiotemporal heterogeneity and may undergo dynamic evolution. With the continuous identification of actionable alterations, targeted therapies guided by genomic testing have emerged as an important approach to improving patient outcomes. Therefore, the implementation of standardized genomic testing in clinical practice has become an urgent priority. While several international and domestic guidelines have recommended genomic testing for MBC, China still lacks detailed technical specifications and clinical pathways tailored to advanced disease in the local healthcare context. Accordingly, it is imperative to establish a guideline for genomic testing in advanced breast cancer that reflects national realities, ensures strong clinical operability, unifies testing standards, and optimizes workflows, thereby expanding access to precision therapy and improving patient prognosis. Against this background, the Breast Cancer Committee of the Chinese Anti-Cancer Association convened a multidisciplinary working group experts. Following predefined methodological procedures-including clinical question prioritization, systematic evidence retrieval, graded evaluation, and formulation of recommendations-the guideline was developed. It integrates the latest evidence with multidisciplinary expert consensus, providing specific recommendations on key aspects of genomic testing for MBC, including patient eligibility, specimen selection, testing methodologies, and prioritization of target genes. In addition, the guideline systematically summarizes available targeted therapeutic strategies for different genomic alterations, and provides graded recommendations based on both levels of evidence and drug accessibility, thereby ensuring clarity and facilitating clinical implementation. This guideline is closely aligned with the realities of clinical practice and drug accessibility in China, with a strong emphasis on the feasibility of testing and the actionability of results. It establishes a multidisciplinary consensus on standardized pathways for genomic testing in patients with MBC, aiming to bridge precision diagnostics and individualized targeted therapy, and to provide practical guidance for improving the standardization of advanced breast cancer care nationwide.

2. [Guidelines on clinical practice of molecular tests in breast cancer in China (2025 edition)].

作者: .; .; .
来源: Zhonghua Zhong Liu Za Zhi. 2025年47卷10期929-945页
Breast cancer is one of the most prevalent malignancies among women globally and ranks second in the incidence of malignant tumors among Chinese women. It has become a significant public health issue that seriously threatens women's health, highlighting the urgent need to establish a precision prevention and treatment system. Currently, the diagnosis and treatment of breast cancer have transitioned from traditional histological classification to a precision medicine phase centered on molecular characteristics, significantly enhancing the specificity and effectiveness of clinical treatments. With the rapid development of molecular biology techniques, the continuous discovery and application of new biomarkers have fueled the growing demand for molecular pathological testing in clinical settings. The widespread use of various molecular testing platforms has driven clinical decision-making from population-based and standardized approaches to individualized and refined strategies. This shift enables clinicians to more accurately assess patient prognosis and predict treatment responses, thereby formulating more appropriate treatment plans. However, the emergence of new technologies and biomarkers has also increased the requirements for standardization, normalization of testing procedures, and the establishment of quality control. While this trend brings new opportunities for precision diagnosis and treatment of breast cancer, it also poses higher demands on clinical and pathological practices, necessitating the establishment of unified precision diagnosis and treatment pathways and consensus. The "Guidelines on clinical practice of molecular tests in breast cancer in China (2025 edition)" was developed through a multidisciplinary collaboration among experts in molecular pathology and breast oncology, integrating domestic clinical realities with international advancements. We systematically evaluated evidence quality (GRADE criteria) and recommendation strength based on global clinical studies and practical experiences. The guideline aims to harmonize localized molecular diagnostic expertise with global insights, addressing critical needs in precision therapeutics, hereditary susceptibility assessment, and prognostic recurrence risk stratification. It proposes optimized clinical testing algorithms, emphasizes multidisciplinary integration, and establishes standardized protocols to ensure robust implementation of molecular diagnostics in China. This document serves as an authoritative reference for clinicians and pathologists to refine individualized patient management and jointly promotes the realization of the "Healthy China 2030" strategic goal.

3. [Clinical application guideline for breast cancer biomarker testing Chinese Society of Pathology, The Society of Breast Cancer China Anti-Cancer Association, Pathology Quality Control Center].

来源: Zhonghua Bing Li Xue Za Zhi. 2025年54卷10期1039-1049页

4. Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

作者: Joanne Ngeow.;Jianbang Chiang.;Esteban Astiazaran-Symonds.;Judith Balmaña.;Ilana Cass.;Felix K F Kommoss.;William D Foulkes.;Paul A James.;Arielle Katcher.;Susan Klugman.;Alicia A Livinski.;Julie S Mak.;Nicoleta Voian.;Myra J Wick.;Marc Tischkowitz.;Tuya Pal.;Douglas R Stewart.;Helen Hanson.; .
来源: Genet Med. 2025年27卷11期101557页
RAD51C, RAD51D, and BRIP1 germline pathogenic variants (GPVs) are associated with increased lifetime risks of tubo-ovarian cancer. Resources for managing RAD51C, RAD51D, and BRIP1 heterozygotes in clinical practice are limited.

5. [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].

作者: Henriett Butz.;Attila Patócs.
来源: Magy Onkol. 2025年69卷3期404-415页
To formulate standardized recommendations for recognizing and managing the genetic risk of breast cancer, based on the latest scientific evidence and clinical experience.

6. [Systemic treatment of breast cancer: professional guideline].

作者: Gábor Rubovszky.;Magdolna Dank.;Katalin Boér.;Judit Kocsis.;Erika Kövér.;Károly Máhr.;Alíz Nikolényi.;Zsolt Horváth.
来源: Magy Onkol. 2025年69卷3期313-353页
Over the years since the 4th Breast Cancer Consensus Conference, a substantial body of new evidence based on clinical trial results has been published, necessitating an update of the 2020 recommendations. This professional guideline primarily reflects the current ESMO, NCCN, ABC, and St. Gallen Consensus Conference statements and recommendations. From a didactic perspective, the text first addresses early-stage breast cancer, followed by locally advanced, locoregionally recurrent, and metastatic breast cancer. At the beginning of both the early-stage and metastatic breast cancer sections, we provide a summary of general principles relevant to the respective field, which apply to the subsequent subsections. Within these subsections, therapeutic options are discussed according to genomic subgroups. At the end of the recommendations, considerations for the management of certain rare clinical scenarios are summarized. The appendices cover, among other topics, multidisciplinary team (tumor board) requirements, recommended chemotherapy protocols, and the definition of menopause.

7. Molecular Testing in Solid Tumors: Best Practices from the Molecular Pathology and Precision Medicine Study Group of the Italian Society of Pathology (PMMP/SIAPeC).

作者: Nicola Fusco.;Giancarlo Pruneri.;Fabio Pagni.;Umberto Malapelle.
来源: Pathologica. 2025年117卷2(Suppl.1)期S1-S4页
The Italian Society of Pathology's Molecular Pathology and Precision Medicine Study Group (PMMP/SIAPeC) has released a three-part set of best practice guidelines to stan-dardize and enhance molecular testing in solid tumors. Part I focuses on the pre-analytical phase, emphasizing proper tissue handling and quality control to preserve nucleic acid integrity. Part II addresses the analytical phase, outlining workflows for next-generation sequencing (NGS), from extraction to variant interpretation, with recommendations on choice of platform, gene panels, and bioinformatics. Part III covers the post-analytical phase, offering guidance on structured, clinically meaningful reporting to support thera-peutic decisions, including standards for both tissue and liquid biopsies. Together, these documents aim to harmonize molecular diagnostics, ensuring reliable, high-quality results that support precision oncology.

8. NCCN Guidelines® Insights: Non-Small Cell Lung Cancer, Version 7.2025.

作者: Gregory J Riely.;Douglas E Wood.;Dara L Aisner.;Billy W Loo.;Andrea L Axtell.;Jessica R Bauman.;Ankit Bharat.;Joe Y Chang.;Aakash Desai.;Thomas J Dilling.;Jonathan Dowell.;Gregory A Durm.;Scott Gettinger.;Travis E Grotz.;Matthew A Gubens.;Aditya Juloori.;Rudy P Lackner.;Michael Lanuti.;Benjamin Levy.;Jules Lin.;Christine M Lovly.;Fabien Maldonado.;Daniel Morgensztern.;Trey C Mullikin.;Thomas Ng.;Dawn Owen.;Dwight H Owen.;Sandip P Patel.;Tejas Patil.;Patricio M Polanco.;Jonathan Riess.;Ana Lucia Ruano Mendez.;Theresa A Shapiro.;Aditi P Singh.;James Stevenson.;Alda Tam.;Tawee Tanvetyanon.;Jane Yanagawa.;Edwin Yau.;Kristina Gregory.;Lisa Hang.
来源: J Natl Compr Canc Netw. 2025年23卷9期354-362页
The NCCN Guidelines for Non-Small Cell Lung Cancer (NSCLC) provide recommendations for the treatment of NSCLC. These NCCN Guidelines Insights discuss recent updates to the NCCN Guidelines, with a focus on systemic therapy options for the treatment of patients with nonmetastatic NSCLC and the corresponding molecular testing considerations.

9. Uveal Melanoma UK national guidelines: 2023 update.

作者: Thomas J Carter.;Jack Broadfoot.;Sarah E Coupland.;Bertil Damato.;Helen Evans.;Stephen Fenwick.;Leila Khoja.;Tracey Krausa.;Rachel Lewis.;Paul Nathan.;Sachin Modi.;Guy Negretti.;Sukaina Rashid.;Joseph J Sacco.;Heather Shaw.;Karen Sisley.;Reta Sowton.;Samra Turajlic.;Nancy Turnbull.;Audrey Woraker.;Matthew Wheater.
来源: Eur J Cancer. 2025年228卷115687页
UK Guidelines for the management of uveal melanoma (UM) were first published in 2015 using an evidence-based systematic approach. The primary aim of this guideline was to optimise patient care by providing recommendations based on the best available scientific evidence. The resulting guideline reflected the strengths and weaknesses of the available evidence, made recommendations that were clinically impactful around prognostication, surveillance, and treatment for patients with primary lesions and metastatic disease. The guideline development process and content met the standards required by NICE and were ultimately NICE accredited. Here, we present an update to these guidelines, highlighting where practice or treatment has changed to such an extent that the original recommendations are now out of date. Presented here are updated guidelines on molecular and genetic testing, management of metastatic disease and clinical surveillance.

10. [Chinese Medical Association guideline for clinical diagnosis and treatment of lung cancer (2025 edition)].

作者: .
来源: Zhonghua Zhong Liu Za Zhi. 2025年47卷9期769-810页
To further standardize lung cancer prevention and treatment measures in China, enhance the quality of diagnosis and treatment, improve patient prognosis, and provide evidence-based medical guidance for clinicians at all levels, the Chinese Medical Association convened experts from respiratory medicine, oncology, thoracic surgery, radiotherapy, imaging, and pathology to develop the "Chinese Medical Association's clinical diagnosis and treatment guidelines for lung cancer (2025 edition)". This consensus resulted in several updates from the 2024 version. In the screening section, a new recommendation has been added to specify populations not advised to undergo lung cancer screening. It also emphasizes that individuals at high risk for lung cancer should be fully informed of the potential benefits and risks of low-dose CT (LDCT) screening before undergoing the examination. With the advancement of treatment options, updates have been made to the recommended genetic testing for patients with early- and mid-stage postoperative and advanced non-small cell lung cancer (NSCLC). For patients with advanced epidermal growth factor receptor (EGFR) mutations, in addition to a broader range of monotherapy options, the application of combination therapies may offer better disease control for certain patients. Furthermore, more treatment options have been approved for patients undergoing immunotherapy-based neoadjuvant treatment and for those who develop resistance to EGFR tyrosine kinase inhibitors (TKIs). For patients with previously limited treatment options, such as those with KRAS G12C mutations, HER-2 mutations, or small cell lung cancer after resistance development, the approval of novel drugs has brought significantly improved efficacy and prognosis. These recommendations are based on state-approved drug applications, international guidelines, and current clinical practices in China, integrating the latest evidence-based medical research in screening, diagnosis, pathology, genetic testing, immune molecular marker detection, treatment methods, and follow-up care. The goal is to provide comprehensive and reasonable recommendations for clinicians, imaging specialists, laboratory technicians, and other medical staff at all levels.

11. Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

作者: Angelika L Erwin.;Aya Abu El Haija.;James T Bennett.;Leslie G Biesecker.;Matthew A Deardorff.;Evan R Hathaway.;Marilyn M Li.;Julian Martinez-Agosto.;Michael Walsh.;Jennifer M Kalish.; .
来源: Genet Med. 2025年27卷10期101480页
To provide diagnostic guidance for individuals with lateralized overgrowth (LO) and implement appropriate screening protocols. LO without a syndromic presentation is considered idiopathic isolated lateralized overgrowth (ILO).

12. Secondary Publication of Japanese Dermatological Association Guidelines: Clinical Questions of Guidelines for Cutaneous Angiosarcoma 2025.

作者: Yasuhiro Fujisawa.;Yasuo Yoshioka.;Koji Yoshino.;Taku Fujimura.;Yoichi Naito.;Mamiko Masuzawa.;Kohei Oashi.;Eiji Nakano.;Hiroshi Kato.;Yusuke Muto.;Hiroshi Koga.;Tomomitsu Miyagaki.;Hiroshi Uchi.;Yasuhiro Nakamura.;Kenji Asagoe.
来源: J Dermatol. 2025年52卷10期e859-e875页
Cutaneous angiosarcoma is a rare aggressive malignancy with poor prognosis. Due to its rarity, high-level evidence from randomized controlled trials is limited, and treatment strategies have historically been adapted from other sarcomas. These guidelines aim to provide updated recommendations based on newly available evidence to standardize clinical practice in Japan. The 2024 revision was conducted under the Japanese Dermatological Association's commission, incorporating expert reviews and public comments. Given the lack of an established staging system, recommendations were formulated through systematic literature reviews and a structured consensus process. Five clinical questions were addressed, covering first-line chemoradiotherapy (CRT), management of residual lesions post-CRT, second-line treatment options, the role of pembrolizumab in tumor mutational burden-high cases, and treatment strategies for nonhead-and-neck angiosarcomas. Key recommendations include weakly recommending CRT for large (≥ 5 cm) nonmetastatic tumors, preferring drug modification over excision for residual lesions after CRT, and equally considering docetaxel, pazopanib, or eribulin for paclitaxel-resistant cases. Pembrolizumab was weakly recommended for tumor mutational burden-high cases. For radiation-associated angiosarcoma, surgical treatment was favored over CRT, while Stewart-Treves syndrome cases were treated similarly to head-and-neck angiosarcoma. Future directions emphasize the need for multicenter registry studies and prospective trials to refine treatment strategies. As advances in genomic medicine and immunotherapy evolve, guideline updates will be essential to ensure optimal patient care.

13. Therapy for Stage IV Non-Small Cell Lung Cancer With Driver Alterations: ASCO Living Guideline, Version 2025.1.

作者: Joshua E Reuss.;Sara Kuruvilla.;Nofisat Ismaila.;Ibrahim Hanna Azar.;Jill Feldman.;Naoki Furuya.;Paul Wheatley-Price.;Logan Roof.;Ana I Velazquez.;Yubao Wang.;Natasha B Leighl.
来源: J Clin Oncol. 2025年43卷24期e31-e44页
Living guidelines are developed for selected topic areas with rapidly evolving evidence that drives frequent change in recommended clinical practice. Living guidelines are updated on a regular schedule by a standing expert panel that systematically reviews the health literature on a continuous basis, as described in theASCO Guidelines Methodology Manual. ASCO Living Guidelines follow theASCO Conflict of Interest Policy Implementation for Clinical Practice Guidelines. Living Guidelines and updates are not intended to substitute for independent professional judgment of the treating clinician and do not account for individual variation among patients. See appendix for disclaimers and other important information (Appendix 1 and Appendix 2). Updates are published regularly and can be found athttps://ascopubs.org/nsclc-da-living-guideline.

14. Management of metastatic uveal melanoma: French expert consensus guidelines.

作者: Manuel Rodrigues.;Vincent Servois.;Pascale Mariani.;Marc Pracht.;Caroline Dutriaux.;Franck Grillet.;Thomas Ryckwaert.;Agnès Ducoulombier.;Eve-Marie Neidhardt.;Sophie Piperno-Neumann.
来源: Bull Cancer. 2025年112卷11期1334-1341页
Uveal melanoma (UM) is a rare malignancy originating from uveal melanocytes. Despite effective control of the primary tumour, metastatic uveal melanoma (MUM) occurs in approximately 20-30% of patients, primarily affecting the liver, with a poor prognosis and overall survival (OS). The unique molecular profile of UM, lacking BRAF, NRAS, and KIT mutations, limits targeted therapy efficacy. Chemotherapy and immune checkpoint inhibitors (ICIs) also show limited benefits, while tebentafusp has emerged as the first drug to improve OS, but this systemic treatment can be used only in HLA-A*02:01-positive patients. A French multidisciplinary panel developed evidence-based guidelines for MUM management presented in this review. Recommendations emphasise on comprehensive diagnosis, including liver biopsy and imaging, circulating tumour DNA (ctDNA) analysis, and high-definition HLA typing for HLA-A*02:01. Local therapies are proposed for patients with limited hepatic metastases, from liver surgery to isolated hepatic perfusion and chemoembolisation for patients with more extensive hepatic involvement. Systemic therapy with tebentafusp is the standard of care for HLA-A*02:01-positive patients. For HLA-A*02:01-negative patients with extensive disease, treatment options are limited. They are encouraged to participate in a clinical trial, alternatively, percutaneous hepatic perfusion, ICI alone or in combination can be proposed. Treatment efficacy assessment includes response evaluation criteria in solid tumours (RECIST), tumour growth rate (TGR) analysis, and ctDNA dynamics. This consensus provides practical guidelines for French oncologists to optimise MUM management, integrating locoregional interventions, systemic therapies, and biomarkers to enhance patient outcomes.

15. [Guideline on clinical practice of molecular testing in ovarian carcinoma].

作者: .; .; .
来源: Zhonghua Bing Li Xue Za Zhi. 2025年54卷7期689-700页

16. Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.

作者: Jonathan D Wasserman.;Kami Wolfe Schneider.;Maria-Isabel Achatz.;Yoshiko Nakano.;Kristin Zelley.;Bailey Gallinger.;Andrew J Bauer.;Kerri D Becktell.;Ari J Wassner.;Laura Raiti.;Andrea S Doria.;Lisa J States.;Constantine A Stratakis.;Garrett M Brodeur.;Lisa R Diller.;Junne Kamihara.;David Malkin.;Kristian W Pajtler.;Chieko Tamura.;Anita Villani.;Elysa Widjaja.;Anirban Das.;Surya P Rednam.
来源: Clin Cancer Res. 2025年31卷17期3628-3637页
Hereditary endocrine neoplasia syndromes comprise multiple entities associated with an increased risk for the development of endocrine and nonendocrine neoplasms and other systemic manifestations. These syndromes typically demonstrate autosomal dominant inheritance, and each syndrome is associated with a unique genetic predisposition to a distinct spectrum of tumor susceptibility. Moreover, genotype-phenotype associations within each syndrome may affect the spectrum, penetrance, and age of onset of associated tumors. As many endocrine tumors are benign and/or indolent, a careful approach to monitoring is necessary, wherein the nature, timing of initiation, and frequency of presymptomatic surveillance balance the goal of detecting tumors at a point in which intervention would limit tumor-associated morbidity against the physical, emotional, and financial burdens of surveillance. In this study, we summarize changes in knowledge and practice recommendations related to children with multiple endocrine neoplasia syndromes (types 1, 2A, 2B, 4, and 5), hyperparathyroidism-jaw tumor syndrome, and Carney complex since an initial summary in 2017. These updates reflect the evolving understanding of these complex genetic disorders and aim to improve patient care and outcomes.

17. Breast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations.

作者: C Turnbull.;M I Achatz.;J Balmaña.;E Castro.;G Curigliano.;C Cybulski.;S M Domchek.;D G Evans.;H Hanson.;N Hoogerbrugge.;P A James.;A Krause.;K L Nathanson.;J Ngeow Yuen Yie.;M Robson.;M Tischkowitz.;B Westphalen.;W D Foulkes.
来源: Ann Oncol. 2025年36卷8期853-865页
With widening therapeutic indications, germline genetic testing is offered to an increasing proportion of patients with breast cancer (BC) via mainstream oncology services. However, the gene set tested varies widely from just BRCA1/BRCA2 through to 'pan-cancer' panels of nearly 100 genes. If a germline pathogenic variant (GPV) is detected, the BC proband and other family GPV-carriers may be offered interventions such as risk-reducing surgery and intensive surveillance over decades for the various cancers linked to that gene.

18. International Myeloma Society/International Myeloma Working Group Consensus Recommendations on the Definition of High-Risk Multiple Myeloma.

作者: Hervé Avet-Loiseau.;Faith E Davies.;Mehmet K Samur.;Jill Corre.;Mattia D'Agostino.;Martin F Kaiser.;Marc S Raab.;Niels Weinhold.;Norma C Gutierrez.;Bruno Paiva.;Paola Neri.;Katja Weisel.;Francesco Maura.;Brian A Walker.;Mark Bustoros.;A Keith Stewart.;Saad Z Usmani.;Jens Hillengass.;Wee Joo Chng.;Jonathan J Keats.;Joaquin Martinez-Lopez.;Adam S Sperling.;Cyrille Touzeau.;Fenghuang Zhan.;Noopur S Raje.;Michele Cavo.;Niccolò Bolli.;Irene M Ghobrial.;Madhav V Dhodapkar.;Sundar Jagannath.;Andrew Spencer.;Samir Parekh.;Nizar J Bahlis.;Sagar Lonial.;Pieter Sonneveld.;Leif Bergsagel.;Robert Z Orlowski.;Gareth Morgan.;María Victoria Mateos.;S Vincent Rajkumar.;Jesus F San Miguel.;Kenneth C Anderson.;Philippe Moreau.;Shaji Kumar.;Felipe Prósper.;Nikhil C Munshi.
来源: J Clin Oncol. 2025年43卷24期2739-2751页
Despite significant improvements in survival of patients with multiple myeloma (MM), outcomes remain heterogeneous, and a significant proportion of patients experience suboptimal outcomes. Importantly, traditional prognostic factors based on data from patients treated with older therapies no longer capture prognosis accurately in the contemporary era of novel triplet or quadruplet therapies. Therefore, risk stratification requires refinement in the context of available and investigational treatment options in routine practice and clinical trials, respectively. The current identification of high-risk MM (HRMM) in routine practice is based on the Revised International Staging System, which stratifies patients using a combination of widely available serum biomarkers and chromosomal abnormalities assessed via fluorescence in situ hybridization. In recent years, a substantial body of evidence concerning additional clinical, biological, and molecular/genomic prognostic factors has accumulated, along with new MM risk stratification tools and consensus reports. The International Myeloma Society, along with the International Myeloma Working Group, convened an Expert Panel with the primary aim of revisiting the definition of HRMM and formulating a practical and data-driven consensus definition, based on new evidence from molecular/genomic assays, updated clinical data, and contemporary risk stratification concepts. The Panel proposes the following Consensus Genomic Staging (CGS) of HRMM which relies upon the presence of at least one of these abnormalities: (1) del(17p), with a cutoff of >20% clonal fraction, and/or TP53 mutation; (2) an IgH translocation including t(4;14), t(14;16), or t(14;20) along with 1q+ and/or del(1p32); (3) monoallelic del(1p32) along with 1q+ or biallelic del(1p32); or (4) β2 microglobulin ≥5.5 mg/L with normal creatinine (<1.2 mg/dL).

19. UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.

作者: Olga Tsoulaki.;D Gareth Evans.;Khushboo Sinha.;Neil Rajan.;Farah Bakr.;Helen Hatcher.;Andrea Napolitano.;Elena Finn.;Sunil Iyengar.;Aslam Sohaib.;Timothy J Sadler.;Claire Forde.;Emma Roisin Woodward.;Terri P McVeigh.;Marc Tischkowitz.;Fiona Lalloo.;Helen Hanson.
来源: J Med Genet. 2025年62卷9期559-565页
Constitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to the rarity of POT1 GPVs and limited available data, the overall lifetime cancer risks for individuals with POT1-TPDS are unclear. Furthermore, there is scant evidence to support the role of surveillance in early cancer detection in this patient group. A recent international publication suggested a surveillance protocol similar to that used in Li-Fraumeni Syndrome (LFS) could be offered to POT1 pathogenic variant carriers, particularly where there are LFS-like features. However, current evidence for POT1-TPDS is not supportive of an equivalent lifetime cancer risk. Given the inclusion of POT1 in the National Test Directory in England and the need for UK-based guidance, an expert group undertook a literature review to assess the phenotypic spectrum of POT1-TPDS and to provide lifetime risk estimates of POT1-associated cancers. The available evidence was shared with a small working group of experts that included clinical geneticists, dermatologists, sarcoma specialists, haematologists and radiologists to cover all aspects of the cancers most commonly associated with POT1-TPDS. Following structured expert group discussions, we achieved consensus on best practice recommendations for a POT1-TPDS UK management protocol.

20. ENDOCAN TUTHYREF network consensus recommendations: Anaplastic thyroid cancer.

作者: Livia Lamartina.;Arnaud Jannin.;Myriam Decaussin-Petrucci.;Stéphane Bardet.;Alexandre Escande.;Renaud Ciappuccini.;Françoise Borson Chazot.;Abir Al Ghuzlan.;Christine Do Cao.;Julien Hadoux.
来源: Ann Endocrinol (Paris). 2025年86卷4期101788页
Anaplastic thyroid cancer is a rare and rapidly deadly disease. In case of clinical suspicion (rapid growth, stony neck mass), diagnostic work-up should be carried out as a matter of urgency to enable prompt treatment. Multidisciplinary assessment involving the patient's referring specialists, the support care team, and if necessary, a geriatric oncology specialist should be performed and must take account of disease extent, comorbidities, general health status and the patient's wishes. Patients and their families should receive realistic information about the prognosis; either active treatment in parallel to support care or exclusive palliative care can be recommended from the outset. Despite the dismal prognosis, recent advances in tumor molecular profiling and treatment with the advent of targeted treatment and immunotherapy hold out great promise for the future. This article summarizes the consensus recommendations on management of anaplastic thyroid cancers by the ENDOCAN TUTHYREF network, a rare-cancer network of the French National Institute for Cancer (INCa).
共有 475 条符合本次的查询结果, 用时 3.1418893 秒