PATHOLOGICA最新文献

This letter highlights the growing importance of Interventional Pathologists (IP) in modern diagnostic practice. Building on the established role of Interventional Cytopathologists, the integration of In-Vivo and Ex-Vivo Confocal Microscopy (CFM) into surgical and outpatient settings enables real-time histological evaluation. These technologies allow for rapid and accurate diagnosis, reduce procedural repetition, and shorten time to treatment. Clinical applications-including in neurosurgery, dermatology, and breast pathology-demonstrate high diagnostic concordance with standard histology. The authors advocate for the formal recognition and training of Interventional Pathologists to meet the evolving demands of precision medicine.

Objective: Despite the promising introduction of anti-PD-L1 therapy for advanced stage of prostate cancer (PCa), recent studies have demonstrated limited success, suggesting the need to improve patient selection.

Methods: We retrospectively selected 153 PCa patients. We performed SPOP mutational analysis and evaluated PD-L1 expression, MMR/MSI status, TIL (as CD4/CD8 ratio), and the mRNA expression of AR and CD274. Using SPOP interfering-RNA in two PCa cell lines (LNCaP, PC3) and western-blot analysis, we examined the role of SPOP silencing on CD274 expression.

Results: Functionally altered SPOP mutations (14 out of 153 samples, 9.15%) and MMR/MSI status (3.3%) were associated with higher PD-L1 expression (both p < 0.0001), lower TIL (p < 0.0001 and p = 0.0004), and higher Gleason scores (both p < 0.05). SPOP-mutated patients exhibited significantly higher CD274, and AR mRNA expression compared to those without mutations (p = 0.0006 and p = 0.0148). Reducing SPOP expression in cancer cell lines resulted in a significant upregulation of PD-L1 expression.

Conclusions: Our analysis identifies SPOP mutations and MMR/MSI status as cofactors in high PD-L1 expression and CD8/TIL presence in PCa, representing potential markers for selecting patients who are more likely to respond immunotherapy or to combined treatment.

Objective: Perinatal mortality deeply affects parents and healthcare providers. Post-autopsy consultations (PACs) help parents understand the causes of fetal death and offer emotional support. This study evaluates their effectiveness in emotional healing, preventing medico-legal disputes, and identifying key death causes.

Methods: This retrospective study analyzes 360 fetal autopsies at San Martino Hospital, Genoa (2013-2021). Among them, 120 parents sought PACs. Causes of fetal death were classified using the relevant condition at death (ReCoDe) system, and parental emotional outcomes were evaluated based on consultation timing.

Results: Fetal causes, mainly congenital anomalies, accounted for 52.5% of deaths, while placental causes were 46.7%. PACs performed within 5 months of loss led to better emotional outcomes, whereas delayed PACs were linked to ongoing distress. Parents who attended with partners reported greater emotional stability. Additionally, PACs helped reduce medico-legal disputes by clarifying causes of death.

Conclusions: PACs are crucial for helping parents cope with fetal loss, offering emotional closure and reducing legal disputes. A multidisciplinary approach with clear communication from healthcare professionals addresses both the medical and emotional aspects of perinatal mortality. Tailored follow-up care is essential for supporting grieving parents and managing future pregnancies.

Objective: The aim of this study is to assess the impact of Oncotype DX on treatment decisions and healthcare economy.

Methods: Data were retrospectively collected from Fondazione Policlinico Universitario Campus Bio-Medico of Rome. 313 female patients with HR-positive, HER2-negative breast cancer underwent Oncotype DX between August 2020 and January 2024. Recurrence score, recurrence risk and chemotherapy benefit were collected from Oncotype DX report. Clinical and pathological data were collected. To objectify the oncological prescription based on clinicopathological variables, we used PREDICT 2.2 algorithm. Reimbursements, hospital accesses and number of health services in one-year follow-up were also collected.

Results: Oncotype DX did not indicate chemotherapy in 223/313 (71.2%) patients. In the PREDICT 2.2 scenario, 147/313 (47%) patients were not indicated chemotherapy. Thus, genomic test approach led to a decrease of 24.2% in chemotherapy prescription. Patients receiving chemotherapy had 21 (+91.3%) more hospital accesses, 115 (+101.8%) more health services and a reimbursement of €2811 (+31.5%) higher than patients not receiving chemotherapy (median values).

Conclusions: Oncotype DX results in lower rates of chemotherapy prescription and in possible healthcare cost savings.

Choroid plexus papillomas (CPPs) are rare central nervous system benign tumours and spinal metastases are even less frequent. Herein, we describe a case of a 51-year-old man with several episodes of loss of consciousness. Brain magnetic resonance imaging (MRI) displayed a fourth ventricle contrast-enhancing lesion that was totally resected, and histopathological findings showed a papillary neoplasm derived from choroid plexus epithelium, with mild pleomorphism and absence of mitotic activity, consistent with CPP. Two months after the first operation, multiple spinal drop metastases at L4, L5 and S1-S2 were revealed through spine MRI. Histological examination of the spinal lesions fulfilled as well the diagnostic criteria for CPP. Radiological and histological findings are presented, and the relevant literature of spinal spreading of CPPs is discussed. This special case, together with the literature review, helps expanding the spectrum of knowledge on benign CPPs, their potential for disease spread and progression and highlights the need to identify biomarkers that correlate with clinical behaviour.

We describe the case of a NUT carcinoma of the thorax in a 27-year-old male, non-smoker, presenting a voluminous neoformation in the hilum and the left side of the mediastinum infiltrating heart and great vessels. The biopsy revealed a poorly differentiated cancer with focal crush artifact consisting of undifferentiated small to medium-size cells, with minimal indistinct to clear cytoplasm, round or oval nuclei, nuclear molding and brisk mitotic activity. Suggestive morphological features often associated with NUT carcinoma, for example abrupt foci of keratinization, were not seen. Moreover, immunohistochemical (IHC) analysis showed negativity for epithelial markers, such as Cytokeratin AE1/AE3, CK7, CK-CAM5.2, CK5/6, p40 and TTF1; therefore, further immunohistochemical markers were evaluated, and the conclusive diagnosis was based on a diffuse speckled nuclear positivity for NUT1 (clone C52B1). Considering the unusual morphological and IHC findings, a comprehensive genome profiling, by FoundationOne®CDx Next Generation Sequencing (NGS), was performed on DNA from the transbronchial needle aspiration formalin-fixed and paraffin-embedded cell block. Neither NUTM1 gene fusions nor other pathogenic gene variants were detected. However, focal and segmental copy number variations (CNV) were seen in chromosome 19, in the middle of the BRD4 gene, the most common NUTM1 fusion partner. In addition, an array CGH (aCGH) analysis was performed: this analysis revealed different CNV, including a 2.7Mb deletion and a 14.4Mb duplication in chromosome regions were NUTM1 and BRD4 are respectively located. Finally, an RNA-based NGS confirmed the presence of a BDR4-NUTM1 fusion transcript, supporting IHC findings. IHC and molecular results all together are suggestive for a likely non-canonical BRD4-NUTM1 fusion. Our case showed unusual features both from a morphological and a molecular point of view: the diagnosis was driven by NUT1 positive immunohistochemistry, thus underlining the crucial role of this test.