Human pathology最新文献

Accurate grading, staging, and classification are essential components of bladder and prostate cancer pathology, directly influencing clinical management and patient outcomes. Recent initiatives by the International Society of Urological Pathology (ISUP) and the Genitourinary Pathology Society (GUPS) have produced key consensus updates aimed at refining diagnostic criteria and resolving long-standing controversies. This review highlights high-impact developments in bladder and prostate pathology, including updated grading systems and T1 substaging in bladder tumors, the proposed hybrid grading approach, and the classification of urachal carcinoma. Evolving perspectives in prostate pathology are also discussed, encompassing intraductal carcinoma of the prostate (IDC-P), neuroendocrine and aggressive variant tumors, and the clinical relevance of Grade Group 1 (GG1) disease in the context of active surveillance. Recent literature and consensus statements are summarized with attention to diagnostic challenges and practical implementation. These focused updates highlight the dynamic nature of urologic pathology and reflect a broader movement toward greater diagnostic precision, reproducibility, and clinical relevance, with adoption of ISUP and GUPS frameworks essential for improving patient outcomes.

The detection of thyroid lesions is a frequently encountered especially in the adult population. Data from literature emphasize that they are found in more than 65 % of individuals. Most of these lesions are benign (90-92 %), even though the incidence of malignancy has been increasing due to frequent ultrasonographic head and neck evaluation, which can now identify small subcentimeter suspicious nodules. However, a 20 % of them, falling into the category of indeterminate lesions can lead to some pitfalls and tricky evaluations. Globally Fine needle aspiration (FNA) has been established as a safe, useful, first-line diagnostic tool, with a high positive predictive value for identifying malignancy. The development of classification system originated in order to obtain a practical classification system, able to combine each entity with a category and then with a specific risk of malignancy (ROM) and management. It is well-known that, among the others, The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) represent the most worldwide used system. The 3r edition of TBSRTC, published in July 2023, subclassified indeterminate lesions into: a) atypia of undetermined significance (AUS) with nuclear atypia or other atypia, b) follicular neoplasm (FN) and c) suspicious for malignancy (SFM). However, despite the high positive predictive value (97 %-99 %), sensitivity (65 %-99 %) and specificity (72 %-100 %) of thyroid FNAC, diagnostic pitfalls exist that can lead to false positive (FP) and/or false negative (FN) results. This inconvenience is mostly due to the overlapping of morphological features in terms of cells and even background. This review discusses the most important practical issue also related to the application of TBSRTC and the evaluation of morphological challenges that can lead to pitfalls and diagnostic errors.

Endometrial carcinoma comprises a heterogeneous group of tumors with distinct histologic, immunophenotypic, and molecular profiles that have important diagnostic and clinical implications. This review focuses on selected subtypes of endometrial carcinomas with the most update. Endometrial serous carcinoma, though representing ∼10 % of endometrial cancers, accounts for a disproportionate number of endometrial cancer deaths; its early forms - serous endometrial intraepithelial carcinoma and superficial serous carcinoma, collectively termed minimal uterine serous carcinoma (MUSC) - predominantly arise in an endometrial polyp and demonstrate a paradoxically high rate of extrauterine spread despite minimal tumor volume, mandating comprehensive staging. Corded and hyalinized endometrioid carcinoma (CHEC) and pilomatrix-like high-grade endometrial carcinoma (PiMHEC) are CTNNB1/β-catenin-driven variants of endometrioid carcinoma with biphasic or basaloid morphology that may mimic carcinosarcoma, serous, or squamous carcinoma and show variable, sometimes aggressive behavior. Mesonephric-like adenocarcinoma (MLA) is an ER/PR-negative, KRAS-mutated carcinoma with mesonephric-type morphology, frequent deep myometrial and lymphovascular invasion, and a predilection for pulmonary metastasis. Primary endometrial squamous cell carcinoma (PESCC) and endometrial gastric (gastrointestinal)-type mucinous carcinoma (EmGA) are exceptionally rare entities that require stringent exclusion of cervical or metastatic primaries and are typically associated with p53-abnormal and/or gastrointestinal-type molecular signatures and poor outcomes. Across these variants, integration of morphology with immunohistochemistry and molecular testing (including p53, MMR status, POLE) is essential for accurate classification and risk stratification. HER2 overexpression and/or amplification occurs in 25-30 % endometrial serous carcinoma and HER2 testing has become a standard biomarker for selecting patients with recurrent or advanced disease for trastuzumab, and more recently trastuzumab-deruxtecan therapy.

The expanding integration of molecular diagnostics into dermatopathology has transformed the recognition and classification of cutaneous neoplasms, revealing an increasingly diverse landscape of oncogenic gene fusions across melanocytic, mesenchymal, and adnexal tumors. These fusion-driven entities often display distinctive histopathologic, immunophenotypic, and clinical features that can directly inform diagnostic accuracy, prognostication, and, in select cases, therapeutic decision-making. In this review, we summarize recent advances in fusion-associated cutaneous tumors encountered in routine practice, highlighting emerging molecular subsets within Spitz neoplasms, MITF pathway-activated tumors, fusion-driven mesenchymal neoplasms, and adnexal tumors characterized by recurrent kinase or transcriptional regulator rearrangements. We discuss key morphologic correlations that may provide clues to the underlying fusion, the value and limitations of ancillary immunohistochemical surrogates, and the expanding role of next-generation sequencing in resolving diagnostically challenging cases. As the catalog of identified fusions continues to grow, an updated understanding of these entities is essential for accurate classification and for anticipating potential therapeutic vulnerabilities. This review aims to provide a practical, contemporary reference for the diagnostic pathologist navigating the rapidly evolving field of fusion-driven dermatopathology.

Lymphoid neoplasms present many challenges in routine surgical pathology practice, given the numerous forms of non-Hodgkin lymphoma that must be distinguished from each other through careful morphologic evaluation supplemented by an ever-growing battery of ancillary studies that may include immunohistochemistry, flow cytometry, in situ hybridization studies, and, increasingly, next generation sequencing. A further complicating factor is the existence of two partially-overlapping but distinct classification systems currently in widespread clinical practice, the 5th edition World Health Organization classification and the International Consensus Classification. This review provides practical updates in three important areas. First, we discuss the evaluation and classification of follicular lymphoma, one of the most common small B-cell neoplasms, and highlight how to distinguish conventional follicular lymphoma from other forms of follicular lymphoma with very different clinical features and management. Secondly, we describe the current approach to high grade B-cell lymphomas, including "double hit" lymphomas and high-grade B-cell lymphoma, not otherwise specified, and how these challenging cases should be distinguished from the much more common diffuse large B-cell lymphoma, not otherwise specified. Finally, we briefly describe the features of common nodal T-cell lymphomas, including the T-follicular helper cell lymphomas, anaplastic large cell lymphoma, and peripheral T-cell lymphoma, NOS. In each of these areas, we provide guidance on helpful ancillary studies and advice for navigating current classification systems.