PATHOLOGICA最新文献

Eosinophilic vacuolated tumor (EVT) is an emerging renal entity and further studies are required to characterize this neoplasm. EVT is considered generally indolent because metastasis or death from the disease has never been reported. Herein, we report the first case of EVT with mediastinal lymph node metastasis to validate its at least borderline behavior. Based on the morphological features, we additionally used a large panel of immunohistochemical antibodies and next-generation sequencing (NGS) to confirm the diagnosis of EVT and exclude other renal entities. This case report highlights the notion that EVT can exhibit mediastinal lymph node metastasis and patients with EVT need to be closely followed.

In 2024, the World Health Organization published its 5th edition of tumor classification, which comprises several updates and modifications in the "blue book" focused on head and neck tumors. These changes feature a systematized and expanded discussion on haematolymphoid proliferations using a multi-parameter approach that comprises clinical features, morphology, immunophenotype, and genetic data, with the latter becoming an essential characteristic for classification. Moreover, for the first time, the World Health Organization has included non-neoplastic diseases, such as reactive lymphoid proliferations, alongside several recognized independent disorders, including Epstein-Barr Virus positive mucocutaneous ulcers and IgG4-related diseases. Also, various neoplastic diseases, such as paediatric-type follicular lymphoma and large B-cell lymphoma with IRF4 rearrangement, are recognized as independent entities. Finally, the focus has expanded to include different types of histiocytic neoplasms. This review examines and illustrates the main changes and updates on hematolymphoid proliferation and neoplasia in the Head and Neck chapter of the 5th Edition of the Head and Neck WHO classification.

Synovial sarcoma is a rare malignant mesenchymal neoplasm that rarely arises in the head and neck and thyroid lodge. Researchers have documented only few cases in the literature. We present the case of a young woman diagnosed with synovial sarcoma that originated in the thyroid region one year after a total thyroidectomy for a primary papillary carcinoma and eight years after chemo-radiotherapy for a lymphoma.

Objective: Standardization of the pre-analytical phases of bone marrow trephine biopsy (BM) has yet to be achieved. In particular, several fixative and decalcifying reagents with specific benefits and drawbacks are described, but only a few direct comparisons are available. This study aims to test the most used fixation and decalcification protocols and evaluate their effect on tissue antigenicity via immunohistochemistry (IHC).

Methods: To avoid damaging and exhausting diagnostic BMs, we used "surrogate" BMs obtained from dedicated grossing of a non-pathologic spleen. Eleven fixation and decalcification protocols were tested, and their performances were evaluated via IHC protein expression of 25 biomarkers.

Results: The IHC yield varied based on the fixative and decalcifying reagents, but the overall quality is mainly related to the fixative rather than the decalcifying phases. The protocol with the lowest number of inadequate IHC stains (5 out of 25) combined commercially available B5-based fixative and EDTA-based decalcifying reagents. The worst metrics (8 inadequate IHC stains out of 25) were obtained with a protocol based on "in-house" B5-based and EDTA-based reagents.

Conclusions: We compared different protocols and found the best combination of fixative and decalcifying reagents for accurate IHC staining. These findings can improve bone marrow sample handling and standardization in pathology laboratories.

Sino-nasal mucosal melanoma (SN-MM) is an aggressive and rare form of melanoma arising from mucosal melanocytes with pathogenesis unrelated to sun exposure. Conversely to cutaneous melanoma (CM), the molecular bases underling SN-MM development and progression are unclear, and no molecular predictive markers have been identified yet. To better define the molecular landscape of SN-MM, a retrospective series of 37 SN-MMs from 31 patients was analysed for both somatic mutations and cytogenetic alterations. The somatic mutation analysis identified the presence of a driver gene pathogenic variant in 54% of cases. In detail, mutually exclusive NRAS mutations were found in 42% of cases, KRAS mutations in 6%, and KIT mutations in 6% of cases. Remarkably, no BRAF mutations were detected. Patients with NRAS-mutated/KRAS-wild type (wt) melanomas showed better outcome than patients with NRAS-wt/KRAS-mutated melanomas, which were associated with multiple recurrences at local or regional sites. On the other hand, focusing on genomic alterations, copy number variants (loss of 1p36, loss of 3p/3q) were identified in 19% of SN-MMs, which showed poor overall survival and short disease-free survival with early metastatic dissemination. This work describes a new integrated characterization of both single nucleotide variants and, for the first time, genomic alteration in SN-MM, providing a new insight into molecular bases of these neoplasms and prompting further efforts for personalized clinical protocols according to tumour aggressiveness.

Introduction: Liver biopsy is fundamental for characterizing chronic liver disease. Effective communication between specialists during the diagnostic process is crucial. This project aims to outline a diagnostic path shared by clinicians and pathologists, and to propose practical solutions at different stages of the diagnostic work-up, from clinical suspicion to the histology report in patients with chronic liver diseases.

Methods: A panel of experts, within the methodological framework of lean management, joined two rounds of discussion sharing their professional experiences. They reached an agreement on the essential phases and actions of the diagnostic process, and built a shared diagnostic workflow.

Results: The panel agreed on the importance of a standardized form to be filled with all relevant clinical and laboratory data to ensure the flow of information between the clinician and the pathologist. Further decisions were reached on the following practical issues: the advantage of performing liver biopsies in dedicated centers, the need for homogeneous procedures, and the minimum quality standards in all phases, including reporting. Finally, the panel agreed on the usefulness of digital pathology to exchange observations and opinions and to create a territorial network to discuss challenging cases.

Conclusion: Sharing a diagnostic path between the pathologist and the clinician can be a powerful tool to improve both the timing and accuracy of the histology report.

Head and neck squamous cell carcinoma (HNSCC) is a prominent global health concern because of its high incidence, aggressive clinical behavior, and scarce therapeutic options. The management of these neoplasms in the recurrent/metastatic setting has been revolutionized following the results of key clinical trials, leading to the advent of immunotherapeutic agents targeting the PD-1/PD-L1 axis. Despite the exciting results obtained with the new drugs, immunotherapy is helpful only in a sizable minority of patients, and there is a pressing need to identify reliable predictive biomarkers for patient selection. The immunohistochemical assessment of PD-L1 expression was initially identified as a powerful and easily accessible predictive tool, and gained its place as the current standard for patient selection, but it has clear limitations. The imperfect predictive power of PD-L1 has resulted in a strong effort to discover additional clinical, pathological and molecular biomarkers such as tumor HPV status, mutational burden, microsatellite instability, and much more. In addition, the tumor microenvironment has been extensively studied searching for promising new biomarkers as potential avenues for refining patient selection and improvement of treatment outcomes. As we gain deeper understanding of the complex interplay between tumor biology, immune system, and tumor microenvironment, we are rapidly realizing that the perfect biomarker, the magic bullet, probably doesn't exist. On the other hand, with the introduction of new drugs on the horizon, integration of multiple variables in the context of combined predictive scores is shaping up to be our best weapon in this strife to treat each patient with the best possible drug.

Head and neck (H&N) malignancies include a broad spectrum of clinical presentations and outcomes. Sources of risks, errors and mistakes are intrinsic to every therapeutical-diagnostic step leading to potential burden of malpractice allegations and threaten delivery of healthcare. The purpose of this review is to report key factors of malpractice litigation H&N neoplasms, analyzing its ethical-deontological and medico-legal aspects with a focus on Italian law. PubMed and Scopus databases were accessed to assess existing cases of oncological H&N malpractice. Twelve articles were identified according to search criteria in the selected period (2000-2024). Inclusion criteria lead to 6 articles pertaining to analysis of allegations of malpractice in H&N tumors. Diagnostic delay and informed consent issues are the most represented allegations. Poor access and lack of standardization in legal databases is commonly seen as a factor that holds back a thorough litigation analysis. This review adds evidence about common features of medical malpractice allegations through a medico-legal perspective that may help in adopting preventive strategies to mitigate risks and enhance patient safety. Combining data deriving from different studies, the paper contributes to understand the evolution of the trajectory of malpractice in this field.