Diagnostic Pathology最新文献

The appearance of whole slide biopsy images is greatly affected by various factors such as laboratory procedures or the choice of digital slide scanners. The resulting variations in image styles within and across batches of histological images represent one of the major obstacles to the development of generalizable machine learning algorithms. To overcome this challenge, a lot of research has focused on stain normalization and stain augmentation techniques. While such approaches provide effective strategies to reduce stain variation or increase stain invariance, respectively, they typically involve only limited modelling or sampling of the underlying stain style distribution. Tools for a streamlined sampling of different aspects of such a distribution, which would be crucial e.g. for explicitly evaluating machine learning robustness across or with respect to major stain styles, remain largely missing. Here, we present the StainStyleSampler, a toolkit for (i) the exploration and modelling of stain style variations, and (ii) the automated sampling of images or styles capturing the core components of this variation. The tool enables the extraction of various colour features and deconvolved stain components, visualization of such features directly or after dimensionality reduction, modelling of style distributions using binning, clustering, and density mapping, and automated sampling of the most representative reference images. We believe that this software will equip pathologists and computer-scientists with a more versatile set of tools that can substantially aid in both the exploration and sampling of stain variation across whole slide images.

These guidelines provide a clear and practical framework for the effective implementation of digital pathology (DP) in routine anatomical pathology practice. Digital pathology, defined as the digitization of microscope slide into high-resolution whole slide images, is transforming the diagnostic workflow by enabling remote access, improved image analysis, integration with artificial intelligence (AI), and enhanced data management. While digital systems are becoming increasingly integrated into pathology laboratories, the physical archiving of microscope slides remains a legal and procedural requirement in many countries, particularly for histological and cytological materials. As DP continues to evolve globally, the establishment of clear standards, technical requirements, validation procedures, and interoperability guidelines is essential to maintain diagnostic accuracy, patient safety, and system reliability. These recommendations address key technical, organizational, and legal aspects of DP implementation, with an emphasis on ensuring consistent quality and minimizing variability in diagnostic outcomes. The outlined approach supports the safe and effective adoption of DP as an integral element of modern digital healthcare.

Neuroblastoma is the most prevalent extracranial solid tumor in pediatric age populations worldwide and the most common neoplastic disease diagnosed in the first year of life. The term neuroblastoma often encompasses all peripheral neuroblastic tumors (pNTs including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma) of neural crest origin. Since pNTs demonstrate a wide range of clinical behaviors, including spontaneous regression, tumor differentiation/maturation, and aggressive progression refractory to even intensive treatment modalities, these tumors are believed to be distinguished into different biological/molecular groups. For the practical purpose, risk classification systems have been developed based on combinations of so-called prognostic factors.In this review of pNTs, we describe a history of pathology, summarize epidemiology and clinical features, and outline International Neuroblastoma Pathology Classification (INPC). Then we discuss advantages and limitations of core needle biopsy and conventional biopsy of neuroblastoma. Besides the INPC, we also describe other prognostic factors, such as age at diagnosis, clinical stage, and molecular/genetic factors, since they are included in widely used Risk Classification Systems. Additionally, we discuss further molecular abnormalities closely associated with highly aggressive neruoblastomas. Towards the end, we touch on rapidly advancing technologies for establishing an artificial intelligence-assisted INPC system.

Malignant testicular germ cell tumors exhibit significant histologic diversity, particularly across pediatric age groups. Prepubertal patients more commonly develop yolk sac tumors, whereas postpubertal adolescents are more likely to present with mixed germ cell tumors arising from germ cell neoplasia in situ. Although clinical presentations may vary, histologic evaluation and immunohistochemistry remain the cornerstone of diagnosis. Additionally, molecular findings-especially the presence of isochromosome 12p-play a crucial role in prognosis. This review underscores the developmental origins and heterogeneity of malignant testicular germ cell tumors in pediatric populations and provides some contrast with their development in adults.

DNA mismatch repair (MMR) is critical for maintaining genome integrity through correction of single-base mismatches and insertion-deletion loops arising from DNA replication. Heterozygous germline alteration of MMR genes (MSH2, MSH6, MLH1, PMS2) cause autosomal dominant Lynch syndrome (LS), most commonly manifesting as colonic or endometrial cancers, although brain, ovarian, and other organ systems may be involved. Neoplasia in LS usually arises after the age of 30 years. Constitutional mismatch repair deficiency (CMMRD) is inherited in an autosomal recessive manner due to biallelic germline alteration in one of the four MMR genes. Individuals with CMMRD typically develop cancer in the first decade of life, although some may present during the second decade. We present a series of five children who developed cancer prior to the age of 20 years (range: 2-12 years) with malignancies including colonic adenocarcinoma (N = 1), T-lymphoblastic lymphoma (N = 3), and high-grade glioma (N = 4). Two patients with MSH6 alterations developed a constellation of three primary tumors: high-grade glioma, T-lymphoblastic lymphoma, and colonic neoplasia including colonic adenocarcinoma in one patient and a tubular adenoma in the other.