[Genetic diagnostics] [0.03%]
遗传诊断学
Laura Grohs,Felix Marbach,Stefan Aretz
Laura Grohs
Background: Hereditary tumour disposition syndromes (TDS) are caused by pathogenic germline variants in key genes involved in carcinogenesis and, if left untreated, frequently result in a high lifetime risk for a syndrome...
[Guideline development for MRD diagnostics in AML as a blueprint for solid tumors] [0.03%]
[MDS诊断的AML指南制定作为实体瘤的蓝图]
Michael Heuser,Claudia Wickenhauser,Leonie Oevel et al.
Michael Heuser et al.
Background: In acute myeloid leukemia (AML), the monitoring of measurable residual disease (MRD) has evolved over the past two decades from predominantly prognostic supplementary information to a central tool for risk str...
Isabel Hariri,Jessica C Hassel
Isabel Hariri
Background: Melanoma is an aggressive skin cancer with a rising incidence. While early-stage disease can often be managed successfully with surgical intervention alone, advanced stages require immunotherapies and, where a...
Alfonso Vallejo
Alfonso Vallejo
Background: Clear cell sarcoma is a rare, aggressive neoplasm with melanocytic differentiation, characterised by an EWSR1 fusion with ATF1, CREB1 or CREM. In addition to the classic deep-seated variant, a significantly ra...
[Artificial intelligence in molecular pathology : Introduction and overview] [0.03%]
[分子病理学的人工智能：介绍与概览]
Daniel Kazdal,Jan Budczies,Michael Menzel et al.
Daniel Kazdal et al.
Over the past approximately 15 years, pathology has undergone a significant transformation, accompanied by increasing mechanization, technological advancement, and digitization within the field. Molecular pathology plays a significant role ...
Aziz Chouchane,Ilaria Marinoni,Aurel Perren
Aziz Chouchane
Hereditary neuroendocrine neoplasms (NENs) are the basis of over 10% of all neuroendocrine tumors. They result from germline mutations in tumor suppressor genes or proto-oncogenes.Compared to sporadic forms, hereditary NENs usually manifest...
Annette Lebeau,Rita Schmutzler
Annette Lebeau
Approximately 5-10% of all breast cancers arise from a hereditary predisposition. In addition to the high-risk genes BRCA1 and BRCA2, other genes involved in homologous recombination repair (including PALB2, ATM, CHEK2, RAD51C/D, BARD1) and...
[Applications and limitations of liquid biopsy : Applications and methodological limitations of cell-free DNA analysis in tumor diagnostics] [0.03%]
[液态活检及其应用和局限性：肿瘤诊断中游离DNA分析的方法学局限性及其应用与限制]
Irina Bonzheim
Irina Bonzheim
Molecular pathological tumor diagnostics are becoming increasingly important in the context of personalized medicine. Modern high-throughput methods now enable routine molecular tumor profiling to identify genetic aberrations. Tissue biopsi...
[Squamous morula as a rare incidental finding in a colorectal adenoma] [0.03%]
扁平型morula罕见意外出现在结直肠腺瘤中
Félix Honnaert,Hendrik Bläker,Maximilian von Laffert
Félix Honnaert
Udo Siebolts,Sebastian Dintner,Jana Fassunke et al.
Udo Siebolts et al.
Molecular pathology has become a central component of modern pathological diagnostics. With the increasing importance of therapeutically predictive biomarkers and complex molecular procedures, the technical and organizational demands on dia...