Diagnostic Pathology最新文献

Background: Overexpression of ribosomal proteins has been found in several cancer types and has an important role in cell proliferation and tumorigenesis. Analysis of the expression profiles of cholangiocarcinoma revealed that ribosomal protein L15 (RPL15) was significantly upregulated in cancer tissues compared to surrounding liver and biliary tissues. Thus, we tried to investigate the role of RPL15 in intrahepatic cholangiocarcinoma.

Methods: The expression of RPL15 in intrahepatic cholangiocarcinoma was assessed using immunohistochemistry. The relationships between RPL15 expression levels and clinicopathological parameters were analyzed, along with investigating its prognostic significance in overall survival (OS), disease-specific survival (DSS), local recurrence-free survival (LRFS) and metastasis-free survival (MeFS).

Results: In the cohort comprising 182 patients with intrahepatic cholangiocarcinoma, high expression of RPL15 was significantly associated with advanced tumor (pT) stage (P = 0.005) and high histological grade (P = 0.018). In univariate analyses, overexpression of RPL15 predicted worse DSS (P = 0.0001), LRFS (P < 0.0001) and MeFS (P < 0.0001), but not OS (P = 0.3960). Multivariate analyses revealed that RPL15 overexpression independently predicted worse DSS (P = 0.039), LRFS (P < 0.001) and MeFS (P < 0.001).

Conclusions: Overexpression of RPL15 was identified as an adverse prognostic factor predicting worse outcomes in intrahepatic cholangiocarcinoma. RPL15 could serve as a potential therapeutic target to aid in developing new treatment strategies.

Rationale: SMARCB1 (INI1) deficient sinonasal carcinoma is a subtype of Switch/Sucrose nonfermentable (SWI/SNF) complex deficient sinonasal carcinoma, which is distinct from sinonasal undifferentiated carcinoma (SNUC) in 5th edition of the WHO classification of head and neck tumors. It commonly shows basaloid, eosinophilic, oncocytoid or rhabdoid morphology. However, it can exhibit yolk sac like differentiation in very rare cases, with associated SALL4, GPC-3 and CDX2 and AFP expression, which can lead to the misdiagnosis of primary nasopharyngeal yolk sac tumor (YST).

Patient concerns: A 58-year-old male patient with right nasal cavity mass, he complained for persistent right-sided nasal congestion for 3 months, accompanied by decreased sense of smell and protrusion of the right eyeball.

Diagnosis: Histology showed tumor cells with glandular, large cystic, and microcystic architectural arrangement. Immunohistochemically, the tumor cells expressed SALL-4 and GPC-3. The findings supported obvious yolk sac tumor like features. However, the absence of INI-1 expression confirmed the diagnosis of INI-1 deficient sinonasal carcinoma.

Interventions: The patient underwent 4 rounds of clinical tumor volume (CTV) radiotherapy.

Outcomes: The patient was followed up for 22 months with interval nasopharyngeal MRI and lung CT scan, with no sign of tumor recurrence or metastasis.

Lessons: Our case suggests that INI1-deficient sinonasal carcinoma with yolk sac differentiation is an important differential diagnosis of primary nasopharyngeal yolk sac tumor, which may have favorable disease-free survival with adjuvant radiotherapy alone.

Solitary fibrous tumor (SFT) is a fibroblastic tumor characterized by a prominent staghorn vasculature and collagen deposition. However, little is known about SFTs with alveolar structures. Herein, we present a case of an alveolar pattern SFT in a 55-year-old woman. The tumor was present in the lumbosacral spinal canal and showed an alveolar architecture composed of ovoid to spindle-shaped cells. Immunohistochemical examination showed that the tumor cells were positive for STAT6 (nuclear expression), CD34, CD99, and Bcl-2, but negative for cytokeratins (CK-pan and AE1/AE3), EMA, GFAP, CD31, progesterone receptor, S-100 protein, and smooth muscle actin. Furthermore, NAB2::STAT6 fusion was detected using DNA-based next-generation sequencing, which established the diagnosis of SFT at a molecular level. The present case expands the morphological categories of SFT.

Background: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant tumor predisposition syndrome with germline fumarate hydratase (FH) pathogenic variants. We describe the unusual clinical presentation, morphologic, and immunohistochemical features of bilateral renal cell carcinoma (RCC) occurring in polycystic kidneys in a 15-year-old male with HLRCC.

Case presentation: The patient was diagnosed with bilateral polycystic kidneys at 1-year old. At 8-years old he was diagnosed with cutaneous leiomyomas, prompting germline testing which revealed heterozygous variant (c.1301G > A) in the FH gene. Serial imaging identified interval enlargement of several bilateral renal lesions with solid components. Biopsy of a right solid lesion revealed an oncocytic neoplasm. He underwent left total nephrectomy and right partial nephrectomy, revealing numerous bilateral solid and cystic lesions, some with papillary excrescences. Histologic evaluation revealed large cells with eosinophilic to clear cytoplasm and large nuclei with occasional nuclear pseudoinclusions arranged in variable architectural patterns including papillary, tubular, tubulocystic, microcystic and solid. Large cysts were lined by varying thickness of neoplastic cells. By immunohistochemistry, lesional cells were positive for 2-succinocysteine (2SC), TFE3, PAX8 and AMACR, showed retained SDHB, variable FH, and were negative for Cathepsin K, CK20, and CK7. An RNA fusion panel (including TFE3) was negative. Multiple microscopic renal leiomyomas were also present.

Conclusions: Multicystic kidney disease has been previously reported in HLRCC but is not currently included in the WHO classification. Bilateral involvement may mimic polycystic kidney disease and cysts may represent precursor lesions. TFE3-positivity raises the possibility of translocation RCC and is a diagnostic pitfall.

Background: Dysgerminoma, a uncommon malignant neoplasm originating from primitive ovarian germ cells, is exceptionally rare during pregnancy. While several studies have documented dysgerminoma diagnosis via peritoneal effusion cytology, no cases identified during pregnancy have been reported to date. This study presents the first reported case of dysgerminoma diagnosed through peritoneal effusion cytology in a pregnant patient.

Case presentation: A 27-year-old pregnant woman presented to our hospital with an early intrauterine pregnancy and a right adnexal mass detected on B-ultrasound at a local hospital. Cytological evaluation of the peritoneal effusion revealed a polymorphic cell population dominated by discrete large tumor cells mixed with reactive lymphocytes and histiocytes. These tumor cells exhibited moderate to abundant eosinophilic or vacuolated cytoplasm with well-defined borders. Most had round or oval nuclei with high nuclear-to-cytoplasmic (N/C) ratios, granular chromatin with uneven distribution, and distinct nucleoli visible in some cells. While a subset of large cells showed irregular nuclear contours and angular appearances. Immunocytochemistry (ICC) results of cell block (CB) showed positive staining for SALL4, CD117, OCT3/4, PLAP, and D2-40, but negative staining for LCA, CD30, EMA, CK-P, CR, and SF-1. The final diagnosis of dysgerminoma was made by integrating peritoneal effusion cytology, cell block analysis, and ICC results. The patient underwent right adnexectomy and subsequently delivered a healthy female infant at 36 + 4 weeks of gestation. Four-year postoperative follow-up showed no evidence of disease recurrence.

Conclusion: This report describes the cytopathological features of dysgerminoma in peritoneal effusion, specifically the presence of discrete large tumor cells with hyperchromatic nuclei and prominent nucleoli. Cytopathologists should maintain a high index of suspicion for this entity, particularly in young patients, and adopt a comprehensive diagnostic approach including cytomorphological assessment, CB examination, and immunocytochemical analysis to make an accurate diagnosis.

Background: Perivascular epithelioid cell tumor (PEComa) of the pancreas is a rare tumor of pancreatic mesenchymal origin with malignant potential. Critical to appropriate clinical management is determining whether the tumor is benign or malignant. Because of its rarity, morphologic and histologic characteristics and limited patient follow-up of pancreatic PEComa have precluded precise definition of malignancy. However, because malignant pancreatic PEComa appears to be distinctly uncommon, further improvements characterizing its preoperative imaging features could facilitate use of diagnostic endoscopic ultrasound biopsy and perhaps ablative treatment. This paper presents a case of pancreatic PEComa treated at the Affiliated Hospital of North Sichuan Medical College and includes a systematic literature review with special emphasis on the key imaging features of pancreatic PEComa.

Case presentation: In February 2024, a woman in her 50s was admitted to the hospital with subxiphoid discomfort. Magnetic resonance imaging (MRI) of the upper abdomen revealed a round, solid mass in the pancreatic uncinate process. The patient underwent pancreatic mass resection and pancreaticojejunostomy, and the diagnosis of pancreatic PEComa was confirmed through pathological examination.

Conclusions: Imaging examinations appear valuable for a tentative diagnosis of pancreatic PEComa. Key imaging features include its frequent occurrence in the pancreatic head, typically small to moderate size, "pushing" as opposed to infiltrative growth pattern with well-defined margins, and the presence of a capsule. The lesions are usually solid and often exhibit mild to moderate heterogenous enhancement during the arterial phase, with reduced enhancement in the portal and delayed phases.

Introduction: Muscle-invasive bladder cancer (MIBC) is a heterogeneous disease with variable outcomes, necessitating practical classification systems. Molecular subtyping using immunohistochemical (IHC) markers offers a cost-effective approach for therapeutic guidance and assessing survival. Moreover, MIBC molecular subclassification provides a practical approach for guiding immune checkpoint inhibitor therapy.

Methods: We evaluated 124 MIBC cases using IHC markers GATA3, CK5/6, and p16. Cases were classified as luminal (GATA3+, CK5/6-), basal (GATA3-, CK5/6+), or other (GATA3-, CK5/6-). Luminal cases were further subdivided into luminal unstable (LumU; p16+) and luminal papillary (LumP; p16-). Clinicopathological characteristics of MIBC molecular subtypes were also assessed. PD-1 and PD-L1 expression were evaluated relative to clinicopathological features and MIBC subtypes.

Results: In our study, 36.2% of the cases were LumU, 27.6% LumP, and 24.8% basal. The basal subtype generally shows a significantly higher tumor stage (p < 0.05). PD-1 was expressed in 70.5% of cases, with the highest expression in LumU (84.21%). PD-1 expression was significantly higher in the luminal compared to the basal subtype (82.1% vs. 53.8%, p < 0.01). PD-L1, expressed in 40% of cases, was significantly elevated in stage III and considerably higher in basal than luminal subtype (57.7% vs. 34.3%, p < 0.05).

Conclusion: MIBCs were practically subclassified into LumU, LumP, basal, and other subtypes using three IHC markers. PD-1 expression was higher in the luminal subtype, while PD-L1 was predominantly elevated in the basal subtype. These findings highlight the potential of IHC-based subtyping to guide prognosis and treatment in MIBCs.

Background: Bladder cancer is characterized by its heterogeneous nature and high propensity for recurrence and progression. The absence of reliable diagnostic and prognostic biomarkers to accurately identify high-risk patients further complicates the clinical management of the disease. MOC-31, an antibody that targets epithelial cell adhesion molecule (EpCAM), is utilized to distinguish between mesothelioma and metastatic cancer, but its clinical utility, prognostic value and functional dynamics in bladder cancer have yet to be verified.

Methods: A comprehensive analysis of EpCAM expression and its associations with key clinicopathological parameters was performed via The Cancer Genome Atlas (TCGA). Additionally, we retrospectively assessed EpCAM expression in our bladder cancer cohort using MOC-31 antibody and examined its prognostic value and correlation with clinicopathological features. The cBioPortal, STRING and TIMER databases were used to explore the interactions between EpCAM expression, immune cell infiltration and immune checkpoint genes.

Results: The difference in EpCAM expression varied widely across various cancer types and was strongly correlated with advanced cancer stage. EpCAM staining with MOC-31 exhibited membranous positivity in 51.7% of the analysed cohort. Kaplan-Meier survival analysis revealed a discernible trend suggesting a poorer prognosis for patients with low EpCAM expression than for those with high EpCAM expression. Protein-protein interaction demonstrated that EFGR, HER2 and Claudin-7 are key EpCAM interactors. A strong association was observed between EpCAM expression and immune cell infiltration as well as immune-related genes.

Conclusion: This study highlights the prognostic value of EpCAM in bladder cancer, revealing a strong link between EpCAM expression and disease pathogenesis. These results underscore the need for further research to validate these findings and explore the significance of EpCAM as a therapeutic target in managing bladder cancer.

Uterine inflammatory myofibroblastic tumour (IMT) is a relatively rare mesenchymal tumour of the uterus, with recurrence and metastasis rates of 25% and 2%, respectively. As IMT frequently harbours ALK gene rearrangements, some patients may benefit from treatment with tyrosine kinase inhibitors, making accurate identification of this tumour essential. Here, we report the case of a 38-year-old female patient with a tumour clinically resembling uterine leiomyoma. Microscopically, the spindled tumour cells were arranged in orderly intersecting fascicles, accompanied by a sparse infiltrate of inflammatory cells and a notable absence of myxoid matrix. Immunohistochemistry and molecular testing revealed an ALK::SYN3 fusion, suggesting the diagnosis of a uterine leiomyoma-like inflammatory myofibroblastic tumour (UL-like IMT). UL-like IMT is exceedingly rare and can easily be misdiagnosed as smooth-muscle tumours based solely on clinical manifestations and morphology. Therefore, it is recommended that the diagnosis be based on a combination of histopathological features, immunohistochemical markers, and genetic testing results to ensure a comprehensive and accurate assessment.