Diagnostic Histopathology最新文献

Uterine mesenchymal tumours present significant management challenges due to their varied histological subtypes and clinical behaviours. This review explores the recent advances in the molecular pathology of uterine mesenchymal tumours. Leiomyosarcoma, the most common malignant uterine mesenchymal tumour, exhibits complex genomic alterations, with subtypes including spindled, myxoid, epithelioid and the emerging lipoleiomyosarcoma. Smooth Muscle Tumours of Uncertain Malignant Potential (STUMP) and low-grade endometrial stromal sarcomas (LGESS) show diverse morphologies and molecular profiles. High-grade endometrial stromal sarcomas (HGESS) are distinguished by molecular subtypes like YWHAE:: NUTM2, BCOR rearrangements and BCOR internal tandem duplications (ITDs). Rarer tumours, including inflammatory myofibroblastic tumours (IMT) with ALK rearrangements, NTRK-rearranged spindle cell tumours, and perivascular epithelioid cell tumours with TSC1/TSC2 alterations and TFE3 rearrangements, expand the spectrum of uterine mesenchymal neoplasms. Newer fusion sarcomas, such as MEIS1::NCOA2/1, COL1A1::PDGFB, KAT6B/A::KANSL1 and RAD51B fusion sarcoma further our understanding of the various tumour types. Molecular diagnostics are crucial for identifying targetable pathways, accurate tumour classification, and guiding treatment decisions. Understanding these molecular alterations is essential for advancing therapeutic strategies and improving prognosis for patients with uterine mesenchymal tumours.

Management of cancers in the twenty-first century has been defined by personalization. This has involved making more fine-grained distinctions between otherwise similar cancers on the basis of their genomic alterations, and providing more personalized therapies based on the presence or absence of particular biomarkers. This precision testing came relatively late to gynecological cancers, but we are now seeing an explosion in the number and variety of these tests. This review provides a practical overview of molecular and biomarker testing in solid cancers generally. It lays out the different types of alteration and the techniques used to test for them, comparing their strengths and weaknesses. It then explores how pathologists can ensure that the material which they submit for testing is optimized to provide the best results possible, including issues of ischemia, formalin fixation, decalcification and sample assessment. Finally, it explains how a genomic report should be interpreted with a particular focus on potential causes of misleading results. The second part of this review applies the general principles of molecular and biomarker testing to the specific cases of lower gynecological tract neoplasms: specifically PD-L1 immunohistochemical testing in cervical cancer and genomic testing of gynecological melanomas.

Ovarian cancer is the 6th most common cancer in women. The main epithelial subtypes of ovarian cancer include high grade serous carcinoma, low grade serous carcinoma, endometrioid ovarian carcinoma, clear cell ovarian carcinoma and mucinous ovarian carcinoma. Our knowledge of the molecular basis of ovarian cancer has exponentially increased in the last few decades such that each subtype is now regarded as a distinct disease with specific morphological, immunohistochemical and molecular characteristics that allow for more personalized treatment. This article provides a comprehensive overview of the molecular pathology of the commonest types of epithelial ovarian carcinomas. This includes discussion of the scope of current molecular testing available in diagnostic practice and future avenues for testing as a result of translational studies. We also discuss the importance of pathologist involvement in molecular testing pathways, tumour board discussion and trial conduct with respect to ovarian cancer.

Primary mesenchymal tumours of the thorax are rare lesions that can pose significant diagnostic difficulties, particularly given the morphological overlap with carcinomas and mesotheliomas that occur much more commonly at these sites. In this article we will discuss a morphology-based approach to assist pathologists when confronted with a possible mesenchymal neoplasm. This will be combined with an overview of the key immunohistochemical and molecular studies that aid diagnosis of the more commonly encountered neoplasms that arise in the thorax.

Malignant pleural effusions are uncommon in small cell lung carcinoma (SCLC). We report a case of this in an elderly female patient. Her previous history of ductal breast carcinoma, ovarian serous carcinoma, and non-small cell lung carcinoma prompted several possible differential diagnoses. We discuss the importance of cytology specimens in the diagnosis of lung carcinomas, and the cytomorphological features of SCLC with their nuances and subtleties.