Pathologie (Heidelberg, Germany)最新文献

We report on a 19-year-old patient with Sturge-Weber syndrome (SWS), accompanied by a Naevus flammeus, secondary glaucoma, and glaucomatous optic atrophy of the right eye. The painful and blind eye was enucleated. Histopathological analysis revealed a circumscribed choroidal hemangioma around the optic nerve and a smaller extrascleral hemangioma. Molecular genetic testing excluded GNA11, GNAQ, or GNAS mutations. Our work illuminates the clinical, histological, and molecular genetic aspects of this rare case, contributing to the differential diagnosis of ocular conditions in patients with SWS.

Background: In recent years, our understanding of the genesis and development of urothelial carcinomas (UC) has expanded considerably thanks to advancing molecular classifications. These advances have led to significant changes in the 5th edition of the WHO classification of tumors of the urinary tract and male genitalia. The new findings allow both the introduction of modern diagnostic approaches and a return to proven methods in the evaluation of precursor lesions and non-invasive carcinomas.

Aims: This article is intended to provide a summarized overview of the various precursor lesions and pathways of urothelial carcinoma.

Results and discussion: The changes and clarifications in the 5th edition of the WHO classification reflect the progress made in the molecular and morphological characterization of urothelial carcinomas. These adjustments provide an improved basis for diagnosis and treatment and emphasize the importance of differentiated molecular profiles for the classification and treatment of UC. Despite all this, conventional histology remains the gold standard for the diagnosis and classification of non-invasive carcinomas and precursor lesions.

Background: The latest edition of the WHO classification of urinary and male genital tumours was published in 2022. The revision was based on the newest scientific literature. This article summarizes the updated recommendations regarding the classification of molecularly defined tumours.

Results and conclusions: The current edition of the WHO classification of tumours introduced the new category of molecularly defined tumours. This category includes TFE3-rearranged RCC, TFEB-altered RCC, ELOC-mutated RCC, FH-deficient RCC, SDH-deficient RCC, ALK-rearranged RCC and SMARCB1-deficient RCC. The change reflects the importance of the respective alterations with regard to tumour biology and future treatment options. Simultaneously, the diagnosis of these tumours, which sometimes can show equivocal morphologies, is facilitated.

Penile carcinoma exhibits significant geographic variation in incidence, ranking 30th globally among newly diagnosed cancers with an annual rate of 0.84 cases per 100,000 men. Particularly high incidence rates of up to 2.2 are seen in Latin America, Asia, and Africa, largely due to a high prevalence of HPV, lower circumcision rates, and inadequate hygiene standards.The 2022 WHO classification of urogenital tumors continues to differentiate penile carcinomas based on their HPV status; however, the subdivision of numerous subtypes especially of the HPV(+) carcinomas was abandoned. This article aims to present current knowledge on the carcinogenesis of HPV(+) and HPV(-) penile carcinomas and their precursor lesions as well as updates from the latest WHO classification.Approximately 50% of penile carcinomas are caused by infection with high-risk HPV subtypes, with positive p16 immunohistochemistry serving as a good surrogate marker for HPV(+) tumors. HPV(-) carcinomas frequently show TP53 mutations and are associated with a poorer prognosis.While localized penile carcinomas have a relatively good prognosis, survival rates in metastatic cases remain poor. Neither microsatellite instability nor mismatch-repair deficiency appear to play a role, but up to 62.2% of tumors express PD-L1. Currently, immune checkpoint inhibitors such as Avelumab and Ipilimumab, along with antibody-drug conjugates targeting TROP2 and Nectin‑4, are being tested in clinical trials, potentially leading to the approval of targeted therapies for metastatic penile carcinoma in the future.

Background: The latest edition of the WHO classification of urinary and male genital tumours was published in 2022. The revision was based on the newest scientific literature. This article summarizes the updated recommendations regarding the classification of histomorphologically defined tumours.

Results and conclusions: The current edition of the WHO classification made some adjustments on the classification of histomorphologically defined tumour types. Papillary renal cell carcinoma is no longer categorized into two subtypes. Also, the new classification recognized the benign nature of clear cell papillary tumours, which are no longer regarded as carcinomas. Finally, several emerging renal tumours were introduced.

After describing the anatomy of the spleen and the most important immunohistochemical stains for identifying cellular constituents of the normal splenic compartments, etiologies of splenomegaly and the diagnostic approach for spleen biopsies are discussed using the example of a North African patient with a recent migration background and sudden fever. The focus is on infectious diseases and the morphology and molecular features of hematolymphoid neoplasms, particularly the primary "splenic B‑cell lymphomas" according to the World Health Organization (WHO) classification. The importance of clinicopathological correlations and interdisciplinary cooperation in splenic pathology is emphasized.