Diagn Pathol [JOURNAL]
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200 papers
Clinicopathological diagnosis of morphea-like carcinoma en cuirasse in the neck: a rare presentation of lung cancer.
Lin Y, Zhou S, He W
Diagn Pathol · 2025 Feb · PMID 39934784 · Full text
BACKGROUND: Carcinoma en cuirasse is mostly reported in breast cancer. It rarely originates from other visceral tumors such as lung cancer. In this report, we highlight the importance of skin biopsy not to make a misdiag...
BACKGROUND: Carcinoma en cuirasse is mostly reported in breast cancer. It rarely originates from other visceral tumors such as lung cancer. In this report, we highlight the importance of skin biopsy not to make a misdiagnosis or missed diagnosis. CASE PRESENTATION: We report a 51-year-old male, diagnosed with lung adenocarcinoma 2 years ago, presenting as swelling and hardening of the face and neck. The patient was diagnosed with carcinoma en cuirasse from lung cancer and was transferred to the oncology department for further management. Unfortunately, the patient gave up treatment after 3 months and died after 1 year of follow-up. CONCLUSION: In patients with tumors that present as swelling and hardening of the skin, the possibility of skin metastases should be considered, and the necessity of early skin biopsy should be taken into account.
Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity.
Navrkalova V, Mareckova A, Porc J … +8 more , Hricko S, Hrabcakova V, Kissova J, Kundova S, Jarosova M, Pospisilova S, Kotaskova J, Janikova A
Diagn Pathol · 2025 Feb · PMID 39905397 · Full text
High-grade B-cell lymphomas (HGBCLs) are aggressive blood cancers with a severe disease course, especially when the central nervous system (CNS) is involved. Standard histological examination depends on tissue availabili...
High-grade B-cell lymphomas (HGBCLs) are aggressive blood cancers with a severe disease course, especially when the central nervous system (CNS) is involved. Standard histological examination depends on tissue availability and is currently supplemented with molecular tests, as the status of MYC, BCL2, or BCL6 gene rearrangements is required for proper lymphoma classification. This case report demonstrates the relevance of cerebrospinal fluid (CSF) cell-free DNA testing by integrative next-generation sequencing (NGS) panel. The benefit of this approach resided in tumor genotyping alongside the proof of CNS progression despite MRI negativity, revealing a clonal relationship with the primary tumor lesion. In addition, our strategy allowed us to classify the tumor as DLBCL/HGBL-MYC/BCL2 entity. In clinical practice, such a minimally invasive approach provides a more sensitive tool than standard imaging and cell analyzing techniques, enabling more accurate disease monitoring and relapse prediction in particular cases.
Pre-screening of endomysial microvessel density by fast random forest image processing machine learning algorithm accelerates recognition of a modified vascular network in idiopathic inflammatory myopathies.
Massaro A, Cazzato G, Ingravallo G … +5 more , Casatta N, Lupo C, Vacca A, Iannone F, Girolamo F
Diagn Pathol · 2025 Jan · PMID 39891185 · Full text
Biomarkers for discrimination among different subgroups of idiopathic inflammatory myopathies (IIM) are difficult to identify and may involve multiple laboratory tests and time-consuming procedures. We assessed the poten...
Biomarkers for discrimination among different subgroups of idiopathic inflammatory myopathies (IIM) are difficult to identify and may involve multiple laboratory tests and time-consuming procedures. We assessed the potential for artificial intelligence (AI) to extract features such as density of endomysial microvessels based on automatic analysis of the CD31 vascular network on muscle biopsy images. We also assessed the potential of this technique to save time and its agreement rate with analyses based on the manual selection of microvessels from the same images. A total of 84 images from 84 patients with IIM, diagnosed between 2014 and 2020, were retrieved and analyzed using the Fast Random Forest (FRF) technique. We built a lightweight and explainable algorithm for calculating the pixel percentage of CD31 endomysial capillaries. The FRF technique applied on images of CD31-stained muscle sections achieved a good performance in the recognition of microvessels by estimating their density over a standard area corresponding to a sample of microscope image. The time spent for this analysis was 90% less than the manual choice of microvessels (estimated time considering the computational time and the time spent to manually detecting the microvessels features). The good performance of the FRF demonstrates that the CD31 pixel percentage of endomysial capillaries is sufficient for a correct estimation. Finally, the paper proposes a procedure to integrate AI in the pre-screening process.
Correction: Oral mucosal changes caused by nicotine pouches: case series.
Miluna-Meldere S, Vanka SA, Skadins I … +3 more , Kroica J, Sperga M, Rostoka D
Diagn Pathol · 2025 Jan · PMID 39871358 · Full text
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Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors.
Zhang M, Yao X, Zhang N … +7 more , Yu Y, Jia C, Guan X, Xu W, Ni X, Guo Y, He L
Diagn Pathol · 2025 Jan · PMID 39871307 · Full text
BACKGROUND: A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and gene fusions (BCOR::CCNB3 and BCOR::MAML3), as well as YWHAE::NUTM2, whi...
BACKGROUND: A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and gene fusions (BCOR::CCNB3 and BCOR::MAML3), as well as YWHAE::NUTM2, which are found in clear cell sarcoma of the kidney (CCSK), sarcoma with BCOR genetic alterations, primitive myxoid mesenchymal tumor of infancy, and high-grade neuroepithelial tumors in children. Detecting these gene aberrations is crucial for tumor diagnosis. ITDs can be identified by Sanger sequencing or agarose gel electrophoresis. However, gene fusions are usually detected through reverse transcription-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization. Methods that analyze these variants simultaneously in a sensitive and convenient manner are lacking in clinical practice. METHODS: This study validated a Universal Fluorescence Multiplex PCR-based assay that assessed BCOR ITDs, BCOR::CCNB3, BCOR::MAML3 and YWHAE::NUTM2 fusions simultaneously. RESULTS: The assay achieved a detection threshold of 10 copies for fusion genes and 0.32 ng genomic DNA for BCOR ITDs. The performance of this assay was also tested in a cohort of 43 pediatric tumors (17 undifferentiated small round cell sarcomas, and 26 tumors with a histological diagnosis of CCSK). In total, 20 BCOR ITDs, 4 BCOR::CCNB3 and one YWHAE::NUTM2 were detected. When compared with the final diagnosis, the assay achieved 93% sensitivity and 100% specificity. CONCLUSIONS: Accordingly, this assay provided an effective and convenient method for detecting BCOR- and YWHAE-related abnormalities in tumors.
Clinicopathological study and molecular subtyping of muscle-invasive bladder cancer (MIBC) using dual immunohistochemical (IHC) markers.
Vaithegi R, Pai K, Calicut Kini Rao A … +3 more , Monappa V, Prabhu S, Suvarna N
Diagn Pathol · 2025 Jan · PMID 39856762 · Full text
BACKGROUND: Muscle-invasive bladder carcinomas (MIBCs) exhibit significant heterogeneity, with diverse histopathological features associated with varied prognosis and therapeutic response. Although genomic profiling stud...
BACKGROUND: Muscle-invasive bladder carcinomas (MIBCs) exhibit significant heterogeneity, with diverse histopathological features associated with varied prognosis and therapeutic response. Although genomic profiling studies have identified several molecular subtypes of MIBC, two basic molecular subtypes are identified - luminal and basal, differing in biological behaviour and response to treatment. As molecular subtyping is complex, surrogate immunohistochemical (IHC) markers have been used to determine the molecular subtypes with good correlation to genomic profiling. METHODS: We analysed the clinicopathological features of 66 cases of MIBCs received over a 5-year study period. IHC expression was determined using GATA3 and CK5/6 to classify MIBC into luminal, basal and double-negative subtypes. The association between clinicopathologic variables and molecular subtypes were analysed using Chi-square test. RESULTS: The mean age at diagnosis of MIBC was 65.91 years with a male predominance. Based on IHC expression of GATA3 and CK5/6, MIBCs were classified into luminal, basal and double negative subtypes in 62.1%, 30.3% and 7.6% respectively. The luminal subtype occurred at an older age and showed predominantly conventional urothelial carcinoma with papillary morphology. Basal subtype occurred at earlier age, showed greater association with smoking and was more commonly associated with urothelial carcinoma with non -papillary morphology and exhibiting divergent differentiation as well as pure squamous cell carcinoma on histopathological examination. The double-negative subtype was found exclusively in males and exhibited a non-papillary morphology. Notably, all diagnosed neuroendocrine carcinomas were classified as double-negative type. While there was no statistically significant difference in tumour stage in cystectomy specimens between the molecular subtypes, lympho-vascular invasion and lymph node metastasis was more commonly associated with the basal type (p < 0.05) There was no significant difference in recurrence rates, metastasis and death between luminal and basal subtypes. CONCLUSION: A simple two-antibody panel using GATA3 and CK5/6 could help in classifying MIBC into basic molecular subtypes of MIBC with distinctive histopathological features that can provide insights into the corresponding molecular subtype. Greater association of lymphovascular invasion and lymph nodal involvement in cystectomy specimens in basal type and distant metastasis in the double-negative subtype suggests a more aggressive clinical behaviour of these, necessitating more intensive treatment.
Performance analysis of Leica Biosystems p16 monoclonal antibody in oropharyngeal squamous cell carcinoma.
Thavaraj S, Robinson M, Dayal S … +1 more , Bowen C
Diagn Pathol · 2025 Jan · PMID 39856694 · Full text
BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is the sixth leading cause of cancer death globally, with newly diagnosed oropharyngeal squamous cell carcinoma (OPSCC) cases rising to 54,000 in the US alone in...
BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is the sixth leading cause of cancer death globally, with newly diagnosed oropharyngeal squamous cell carcinoma (OPSCC) cases rising to 54,000 in the US alone in the year 2022. Recently, human papilloma virus (HPV) infection was more prevalent in OPSCC patients than the traditionally known carcinogens such as tobacco or alcohol. HPV 16 is the most common causative HPV strain, which is found in 5-10% of HNSCC patients. HPV 16's E6 and E7 oncoproteins bind and inactivate p53 and retinoblastoma (Rb) tumor-suppressing genes. This causes aberrant over-expression of the cell cycle inhibitor gene, p16, leading to tumorigenesis. Leica Biosystems (LBS) has developed a p16 antibody (6H12 clone) for qualitatively identifying the p16 protein in formalin-fixed paraffin-embedded (FFPE) tissue by immunohistochemical staining. This method comparison study tested the concordance rates between ready-to-use (RTU) LBS p16/LBS RTU p16 antibody and Roche Tissue Diagnostics (RTD) CINtec p16 Histology immunohistochemical (IHC) assays by measuring overall agreement (OA), average positive agreement (APA), and average negative agreement (ANA) rates in 170 OPSCC FFPE cases. Interobserver agreement of the 2 assays and LBS RTU p16 comparison with the standard HPV molecular assays (DNA ISH and PCR) were also assessed. METHODS: One hundred and seventy (170) unique oropharyngeal cancer cases were stained for qualitative analysis by the LBS p16 antibody on BOND III. This assay was compared to Ventana's RTD E6H4 (CINtec) clone on Benchmark XT. A stained core was considered p16 positive if the Histoscore (H score) was ≥ 140 and negative if H < 140. RESULTS: Across the pathologists, the agreement rate between the 2 assays ranged from OA, 98.7 - 98.8%, ANA, 98.8 -98.9%, and APA, 98.6%. For LBS RTU p16, the interobserver agreement was OA, 98.7%, ANA, 98.8%, and APA, 98.6%; while for RTD CINtec p16 assay, the concordance was OA, 98.7%, ANA, 98.8% and APA, 98.6%. In comparison to the HPV molecular testing, DNA ISH, and PCR, across pathologists, LBS p16 clone (LBS RTU p16) showed a concordance rate of 85.8-86.9% and 87.6-88.8%, respectively. CONCLUSION: LBS p16 monoclonal antibody demonstrated high concordance with CINtec p16 IHC assay across all the endpoints, suggesting a potential use of LBS RTU p16 clone in detecting p16 protein in oropharyngeal cancer cases.
Immunohistochemical expression of parathyroid hormone-related protein and ezrin in invasive breast carcinoma of no special type: a retrospective analysis.
Shalaby MAGA, Dawoud MM, Gadallah MS … +1 more , Abdou AG
Diagn Pathol · 2025 Jan · PMID 39827339 · Full text
BACKGROUND: Globally, breast cancer ranks among the most common malignancies and has a high mortality rate. Invasive breast carcinoma of no special type (IBC-NST) presents a heterogeneous group with variable prognosis. I...
BACKGROUND: Globally, breast cancer ranks among the most common malignancies and has a high mortality rate. Invasive breast carcinoma of no special type (IBC-NST) presents a heterogeneous group with variable prognosis. Identifying reliable biomarkers is crucial for improving treatment strategies and predicting outcomes. This study investigates the immunohistochemical expression of parathyroid hormone-related protein (PTHrP) and ezrin in IBC-NST and their correlation with clinicopathological features and overall survival. METHODS: This retrospective study analyzed 160 paraffin-embedded tissue samples, including 123 IBC-NST and 37 normal breast tissues, collected from patients treated at Menoufia University Hospital during the period from January 2018 to January 2022. Immunohistochemical staining for PTHrP and ezrin was performed, and expression levels were quantified using the H score. RESULTS: PTHrP expression was significantly higher in IBC-NST than in adjacent DCIS and normal tissues (p < 0.001). High PTHrP percent of expression was associated with metastasis (p = 0.009), bone metastasis (p = 0.012), and lymphovascular invasion (p = 0.037). Ezrin expression was also significantly elevated in IBC-NST, with higher H score values correlating with high tumor grade (p = 0.002), high N stage (p = 0.045), advanced AJCC stage grouping (p = 0.0043) and metastasis (p = 0.001). A significant positive correlation was observed between PTHrP and ezrin expression (rs = 0.341, p < 0.001). Kaplan-Meier analysis showed that high ezrin expression, in terms of intensity (p = 0.007) and H score (p = 0.002), was linked to poorer survival. CONCLUSION: The study highlights the significant roles of PTHrP and ezrin in breast cancer progression. Elevated levels of these proteins are associated with more aggressive disease, suggesting their capability as prognostic indicators and treatment targets in breast cancer. Additional studies are required to investigate their interaction and collective influence on breast cancer metastasis and treatment.
TFE3-rearranged perivascular epithelioid cell tumors of the head and neck with rare fusion partners: clues to the differential diagnosis between benign and malignant tumors.
Takahashi Y, Yoshida A, Yoshimoto S … +8 more , Suzuki S, Kishikawa S, Mitsui A, Ryo E, Kojima Y, Yonemori K, Yatabe Y, Mori T
Diagn Pathol · 2025 Jan · PMID 39815310 · Full text
BACKGROUND: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit...
BACKGROUND: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit and one in the nasal cavity. CASE PRESENTATION: Both cases demonstrated sheet-like or focal nested architecture and comprised epithelioid cells with abundant clear to eosinophilic cytoplasm and vascular stroma. The first case exhibited partial pleomorphism, a small necrosis area, and slightly increased mitosis and was classified as malignant. The second case demonstrated mild atypia and no mitosis or necrosis and was categorized as benign. The nasal tumor was initially considered a TFE3-rearranged renal cell carcinoma metastasis. However, a subsequent renal tumor biopsy revealed angiomyolipoma. The RNA sequence revealed ZC3H4::TFE3 and PRCC::TFE3 fusions in the first and second cases, respectively. CONCLUSION: The fusion partner gene ZC3H4 is uncommon, and this is the third reported PEComa case. The fusion partner gene PRCC is often reported in TFE3-rearranged renal cell carcinoma, and this PEComa case is the second reported in the head and neck region. The initially reported cases with the fusion partner genes ZC3H4 and PRCC were categorized as malignant. These cases were discussed with a literature review.
Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis.
Harb M, Abrassart T, Dewispeleare L … +7 more , Sidon P, Dirckx N, Trepant AL, Castiaux J, Heimann P, Emile JF, Farhat H
Diagn Pathol · 2025 Jan · PMID 39810204 · Full text
BACKGROUND: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associati...
BACKGROUND: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations. In such cases, the term "secondary malignant histiocytosis" can be applied. CASE DESCRIPTION: A 26-year-old patient was diagnosed with anaplastic lymphoma kinase negative anaplastic large cell lymphoma [ALK-ALCL] associated with synchronous malignant histiocytosis. Neoplastic cells were distinguished by the exclusivity of the rearrangement of TCR genes within the lymphoma cells, whereas mutations in the KRAS and TP53 genes affected mono-histiocytic cells. However, these two cells populations shared common chromosomal abnormalities. First line treatment protocol included Brentuximab vedotin, cyclophosphamide, doxorubicin, and methylprednisolone. Despite a partial clinical and biological response after cycle 1 of treatment, the patient was refractory at the end of cycle 2. Patient died in the intensive care unit from a multiple-organ failure related to lymphohistiocytic hemophagocytosis. CONCLUSION: This case represents the first documented instance of synchronous malignant histiocytosis associated with anaplastic large cell lymphoma. Notably, the uniqueness of this case lies in the absence of TCR rearrangement in the histiocytic cells, despite the presence of shared chromosomal abnormalities with the lymphomatous cells indicating a common origin for both neoplastic proliferations. Considering the rarity of such occurrences, the use of histiocytosis targeted therapy alongside conventional lymphoma treatment warrants consideration in such a context.
Exploring the heterogeneity of HER2 gene status and expression in non-positive breast cancer patients: insights from immunohistochemistry and fluorescence in situ hybridization.
Zhong J, Gao B, Wang Q … +5 more , He J, Luo D, Zhang C, Fan J, Nie X
Diagn Pathol · 2025 Jan · PMID 39794852 · Full text
Breast cancer became the most prevalent malignancy among women, and HER2 expression status is critical for treatment decisions. With the emergence of ADC drugs, HER2 low-expressing patients who previously did not respond...
Breast cancer became the most prevalent malignancy among women, and HER2 expression status is critical for treatment decisions. With the emergence of ADC drugs, HER2 low-expressing patients who previously did not respond well to traditional anti-HER2 therapies may now benefit. In this study, immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) were applied to assess HER2 expression in 349 patients with HER2-non-positive breast cancer. Our analysis revealed that HER2-low tumors exhibited fewer grade III tumors (39.74% and 55.65%, respectively, P = 0.005) and higher positivity for estrogen receptor (ER, 88.89% vs. 61.74%, P < 0.001) and progesterone receptor (PR, 84.62% vs. 57.39%, P < 0.001) compared to HER2-ZERO tumors. Of the 349 cases, IHC was ultimately evaluated in 327, the antibodies demonstrated only 64.22% (95% CI: 58.76-69.42%) agreement between clone 4B5 and clone EP3. Pathologist 1, who had more extensive working experience, demonstrated higher consistency (94.19%) with the gold standard when using clone EP3, compared to Pathologist 2 (74.31%). FISH analysis revealed significant differences in HER2/CEP17 ratio and average HER2 copy numbers between HER2-ZERO and HER2-low tumors, but no clear cut-off value could be identified. Notably, HER2/CEP17 ratio mostly between 1 and 2, with HER2-ZERO tumors primarily ≤ 1.4, and average HER2 copy numbers were mostly ≥ 2 and < 4, with HER2-ZERO tumors primarily ≤ 2.5. Despite distinct clinicopathological features, FISH remains inadequate for distinguishing HER2-low from HER2-ZERO expression. Further studies are needed to improve HER2 assessment in this challenging subset of patients.
Fasciolopsis buski infection of the biliary tract: a case report.
Luo S, Tian X, Xu T … +1 more , Wang J
Diagn Pathol · 2025 Jan · PMID 39794831 · Full text
BACKGROUND: Fasciolopsis buski is a large fluke that parasitises the human small intestine, with its infection in the biliary tract being even rarer. Given its relatively rare occurrence in recent years, the clinical dia...
BACKGROUND: Fasciolopsis buski is a large fluke that parasitises the human small intestine, with its infection in the biliary tract being even rarer. Given its relatively rare occurrence in recent years, the clinical diagnosis of F. buski infections can pose certain challenges. CASE DEMONSTRATION: A 59-year-old male patient with a history of consuming raw pig blood was admitted with recurrent upper abdominal pain for over 10 years. Hepatobiliary and pancreatic magnetic resonance cholangiopancreatography showed stenosis of the lower end of the common bile duct, dilatation of the intrahepatic and extrahepatic bile ducts above, and tortuous strips in the common bile duct, indicating parasitic infection. Histopathological examination further confirmed a diagnosis of parasitic infection with F. buski in the biliary tract. The patient was treated with praziquantel after surgery and did not exhibit recurrence during 6 months of follow-up. CONCLUSIONS: Biliary tract infection with F. buski is a rare parasitic disease. This case report discusses an extremely rare case of F. buski infection of the biliary tract caused by consuming raw pig blood. The clinical features, common diagnostic methods, imaging and pathological features, differential diagnosis, treatment, and prognosis of this disease were reviewed to facilitate an improved understanding of this rare condition.
Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway.
Šafanda A, Hájková N, Kendall Bártů M … +6 more , Švajdler M, Matěj R, Hausnerová J, Zima T, Dundr P, Němejcová K
Diagn Pathol · 2025 Jan · PMID 39773640 · Full text
BACKGROUND: Juvenile granulosa cell tumor (JGCT) of the ovary is a rare tumor with distinct clinicopathological and hormonal features primarily affecting young women and children. We conducted a complex clinicopathologic...
BACKGROUND: Juvenile granulosa cell tumor (JGCT) of the ovary is a rare tumor with distinct clinicopathological and hormonal features primarily affecting young women and children. We conducted a complex clinicopathological, immunohistochemical, and molecular analysis of five cases of JGCT. METHODS: The immunohistochemical examination was performed with 32 markers, including markers that have not been previously investigated. Moreover, DNA next-generation sequencing (NGS) and PTEN methylation analysis was performed. RESULT: We found the expression of calretinin, inhibin A, SF1, FOXL2, CD99, CKAE1/3, ER, PR, AR in all cases. WT1 was expressed in one case. Conversely, the expression of p16, OCT3/4, SALL4, GATA3, Napsin A, SATB2, MUC4, TTF1, and CAIX was completely negative. All tumors showed the wild-type pattern of p53 expression. Regarding predictive markers, all tumors were HER2 negative and did not express PD-L1. Mismatch repair proteins (MMR) showed no loss or restriction of expression, similarly to ARID1A, DPC4, BRG1, and INI1. The molecular analysis revealed AKT1 internal tandem duplication in two tumors. Two other cases exhibited mutations in TERT and EP400 and both developed recurrence. All AKT1-wild type tumors exhibited immunohistochemical loss of PTEN expression. However, no mutations, deletions (as assessed by CNV analysis), or promoter hypermethylation in the PTEN gene were detected. CONCLUSION: The results of our study further support the hypothesis that the pathogenesis of JGCT may be driven by activation of the PIK3/AKT/mTOR pathway. These findings could potentially have future therapeutic implications, as treatment strategies targeting the PTEN/mTOR pathways are currently under investigation.
The immunohistochemical combination of low SGLT2 expression and high PRDX4 expression independently predicts shortened survival in patients undergoing surgical resection for hepatoblastoma.
Liu Y, Han J, Shioya A … +7 more , Zhang YX, Dung VA, Oyama T, Guo X, Yang Q, Ito T, Yamada S
Diagn Pathol · 2025 Jan · PMID 39773476 · Full text
BACKGROUND: Hepatoblastoma (HB) is the most common malignant solid tumor of the liver in children and is a fatal disease with a poor prognosis. Therefore, indicators that can be used for the early prediction of the HB pr...
BACKGROUND: Hepatoblastoma (HB) is the most common malignant solid tumor of the liver in children and is a fatal disease with a poor prognosis. Therefore, indicators that can be used for the early prediction of the HB prognosis are necessary. Sodium glucose cotransporter 2 (SGLT2) is a glucose transporter protein present in the proximal renal tubules. Studies have shown that SGLT2 is associated with the occurrence of tumors and is upregulated in various tumors. Peroxiredoxin 4 (PRDX4) is an antioxidant enzyme with a secretory function and is located in the cytoplasmic endoplasmic reticulum. Recent reports have suggested that it is closely related to the development and prognosis of various cancers. To some degree, this is highly suggestive of the interplay between SGLT2 and PRDX4. METHODS: In the present study, clinical data and post-surgical paraffin-embedded specimens from 75 HB patients were collected, and hematoxylin and eosin and immunohistochemical staining of SGLT2 and PRDX4 were used to analyze their expression and correlation with the clinicopathological features and prognosis. RESULTS: We found that low SGLT2 and high PRDX4 expression predicted a significantly shorter survival and worse clinical condition in HB patients. Furthermore, when low SGLT2 expression was combined with high PRDX4 expression, the event-free survival and overall survival were significantly reduced. Univariate and multivariate Cox proportional hazards analyses showed that low SGLT2 and high PRDX4 expression in HB were independent prognostic factors for the survival after surgical resection. CONCLUSION: The immunohistochemical combination of low SGLT2 and high PRDX4 expression can independently predict a poor prognosis in HB patients.
Gene expression and immunohistochemistry analysis of ADAMTS-1 and its substrates in odontogenic keratocyst.
de Souza Neto OR, de Moraes ATL, Fuzii HT … +5 more , Maneschy Faria AG, Freitas VM, da Silva Kataoka MS, de Melo Alves S, de Jesus Viana Pinheiro J
Diagn Pathol · 2025 Jan · PMID 39762885 · Full text
BACKGROUND: Considering the significant participation of the microenvironment in the local aggressiveness of odontogenic keratocysts, this study aims to evaluate the expression of ADAMTS-1 and its substrates, versican, a...
BACKGROUND: Considering the significant participation of the microenvironment in the local aggressiveness of odontogenic keratocysts, this study aims to evaluate the expression of ADAMTS-1 and its substrates, versican, aggrecan and brevican in this locally invasive odontogenic cyst. METHODS: Immunohistochemistry and polymerase chain reaction (PCR) were conducted on 30 cases of odontogenic keratocysts (OKCs) and 20 dental follicles (DFs). RESULTS: The immunohistochemical expression of these proteins was predominantly cytoplasmic and granular across all samples. In epithelial tissue, the immunoexpression of aggrecan and versican was higher in OKC (p < 0.05) compared to DF. Comparing the expression of proteins between the OKC epithelium and the cystic capsule, it was observed that all molecules were more expressed in the epithelium (p < 0.001). RT-PCR confirmed the expression of ADAMTS-1 and proteoglycans in all samples. CONCLUSION: ADAMTS-1, aggrecan, brevican, and versican were expressed in all samples with a granular and cytoplasmic pattern. RT-PCR confirmed their presence in both OKC and DF, but only aggrecan and versican exhibited significantly higher levels in OKC (p < 0.05). Protein expression was notably greater in the epithelial component of OKC. These findings underscore the potential role of these proteins in the biological behavior of OKC.
(1, 3)-beta-D-Glucan in bronchoalveolar lavage fluid: a useful biomarker in diagnosis of invasive pulmonary infection caused by Hormographiella aspergillata?
Ye H, He J, Huang J … +9 more , Chu P, Liu J, Poon RW, Xing F, Lo SK, Lau RW, Chan JF, Lau SK, Chiu KH
Diagn Pathol · 2024 Dec · PMID 39732699 · Full text
Hormographiella aspergillata is a rare hyaline mold causing invasive fungal infection in humans, until the frequent use of antifungal prophylaxis in immunocompromised hosts. Due to the high mortality of H. aspergillata i...
Hormographiella aspergillata is a rare hyaline mold causing invasive fungal infection in humans, until the frequent use of antifungal prophylaxis in immunocompromised hosts. Due to the high mortality of H. aspergillata infection, early recognition and treatment are crucial. Previous case reports suggested that serum (1,3)-beta-D-Glucan (BG) is one of the diagnostic aids for H. aspergillata infection. Here we report for the first time a case of pulmonary H. aspergillata infection with a negative serum BG but positive bronchoalveolar lavage fluid (BAL) BG. This may suggest that BAL BG is a useful and additional microbiological marker for prompt identification of this fatal invasive fungal infection (IFI). But it should be interpreted together with the clinical presentation, imaging, and other laboratory results.
Combined immunohistochemistry of PRAME and p16 in the differentiation of melanocytic neoplasms, with a detailed focus on acral lesions.
Zheng J, Zang J, Miao Q … +5 more , Shao X, Song H, Wang X, Zhang Y, Chen H
Diagn Pathol · 2024 Dec · PMID 39731107 · Full text
BACKGROUND: Isolated immunohistochemical indicators are limited to diagnose melanocytic neoplasms. This retrospective study is to assess the diagnostic value of combined immunohistochemical analysis targeting preferentia...
BACKGROUND: Isolated immunohistochemical indicators are limited to diagnose melanocytic neoplasms. This retrospective study is to assess the diagnostic value of combined immunohistochemical analysis targeting preferentially expressed antigen in melanoma (PRAME) and p16 in melanocytic neoplasms, with a detailed focus on arcal lesions. METHODS: This was a single center cohort study from January 2022 to June 2023. A total of 165 identified cases were collected, including 112 melanomas (MMs) and 53 melanocytic nevi, which were composed of 122 acral samples and 43 non-acral samples. Immunohistochemistry(IHC) for both PRAME and p16 was performed in these cases, which was subsequently statistically analyzed to assess the diagnosis ability of PRAME and p16. RESULTS: In total samples, the sensitivity and specificity of PRAME(+) for MM are 82.1% and 94.3% (AUC = 0.882, 95%CI:0.827-0.938), while of p16(-) for MM are 31.25% and 94.3% (AUC = 0.628, 95%CI:0.542-0.714); PRAME(+)/p16(-) (meaning as PRAME(+) or p16(-)) displayed a sensitivity and specificity of 85.7% and 88.7% for MM (AUC = 0.872, 95%CI:0.810-0.934), while PRAME(+) &p16(-) (meaning as PRAME(+) and p16(-)) revealed a sensitivity and specificity of 27.7% and 100% in MM (AUC = 0.638, 95%CI:0.555-0.722). In acral samples, PRAME(+)/p16(-) exhibited a specificity of 94.7% and a sensitivity of 86.9% for MM (AUC = 0.908, 95%CI: 0.849-0.968), with sensitivities of 90.9% for invasive MM and 82.5% for preinvasive MM, respectively; The sensitivity and specificity of PRAME(+) &p16(-) for MM is 22.6% and 100% (AUC = 0.613, 95%CI: 0.513-0.714) respectively. In non-acral samples, the sensitivity and specificity of PRAME(+)/p16(-) for MM are 82.1% and 73.3% (AUC = 0.777, 95%CI: 0.622-0.933), while of PRAME(+) &p16(-) are 42.9% and 100% (AUC = 0.714, 95%CI:0.564-0.864). CONCLUSION: Combined IHC of PRAME and p16 contributes to discriminating melanocytic neoplasms, especially for in situ acral MM.
Two cases of mixed large cell neuroendocrine carcinoma and adenocarcinoma of the cervix: case report and review of the literature.
Wei KN, Fu XD, Wang MY … +1 more , Wang LX
Diagn Pathol · 2024 Dec · PMID 39726011 · Full text
BACKGROUND: Mixed adenoneuroendocrine carcinoma (MANEC) of the cervix is a rare malignant tumor with high malignancy and poor prognosis, of which large-cell neuroendocrine carcinoma and HPV-independent adenocarcinoma are...
BACKGROUND: Mixed adenoneuroendocrine carcinoma (MANEC) of the cervix is a rare malignant tumor with high malignancy and poor prognosis, of which large-cell neuroendocrine carcinoma and HPV-independent adenocarcinoma are particularly rare, which have been reported limitedly in the literature. Here, we present 2 cases of MANEC of the cervix and discuss important considerations for diagnosing cervical poorly differentiated carcinoma. CASE PRESENTATION: we reported two cases of mixed large cell neuroendocrine carcinoma and adenocarcinoma of the cervix, one HPV-independent and one HPV-associated, both with vaginal bleeding. Magnetic resonance imaging showed a mass-like shadow in the cervix, with varying degrees of invasion into the vagina or the lower part of the uterine body. Histologically, the tumors showed two components: solid and glandular areas, with solid areas containing nests of tumor cells and focal necrosis. In the glandular area, one showed gastric-type glandular changes, while the other showed usual-type glands. The solid area expressed CgA (1/2), Syn (2/2), and the glandular area expressed p16 (1/2), Muc-6 (1/2), MSH2 (1/2). CONCLUSION: We made a diagnosis of mixed adenoneuroendocrine carcinoma (MANEC) of the cervix and performed a literature review to better supplement epidemiological data and assist in developing standardized treatment methods.
Aberrant bcl6 protein expression in patients with EMZL following recurrence or progression: case report of two cases.
Zhang M, Qu J, Guo W … +2 more , Liu Y, Zhang W
Diagn Pathol · 2024 Dec · PMID 39726003 · Full text
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (EMZL) is an indolent B-cell lymphoma that can involve various anatomic sites. EMZL is derived from post-germinal center marginal zone B cells and ty...
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (EMZL) is an indolent B-cell lymphoma that can involve various anatomic sites. EMZL is derived from post-germinal center marginal zone B cells and typically lacks bcl-6 expression. Herein, we report two post-treatment cases of EMZL where unexpected bcl-6 protein expression was observed in specimens obtained following recurrence or progression. This contrasts with the primary specimens, which were negative for the bcl-6. Additionally, we confirm that the altered bcl6 expression observed in relapsed EMZL cases is independent of BCL6 gene rearrangement, as demonstrated by fluorescence in situ hybridization analysis. Relevant literature was reviewed and summarized to enhance the understanding of this phenomenon, particularly for pathologists.
Renal sarcoidosis: renal pathology guides diagnosis and prognosis.
Liu A, Wang Y, Yan Y … +3 more , Dong B, Cai M, Zuo L
Diagn Pathol · 2024 Dec · PMID 39716305 · Full text
BACKGROUND: While many studies have reported renal involvement in sarcoidosis, there is limited description of the pathological manifestations of renal sarcoidosis (RS). This study aimed to explore the standardized patho...
BACKGROUND: While many studies have reported renal involvement in sarcoidosis, there is limited description of the pathological manifestations of renal sarcoidosis (RS). This study aimed to explore the standardized pathological diagnosis of RS while evaluating the relationship among pathology, clinical manifestations, and prognosis. METHODS: We conducted a retrospective, single-center study of RS in renal biopsy cases treated in our department between January 2019 and December 2023. RESULTS: We identified 5 patients (4 men, 1 woman; median age 52 years, IQR 36-61 years). Two patients were diagnosed with non-caseating granulomatous interstitial nephritis (GTN), while two patients were diagnosed with tubulointerstitial nephritis without granulomas (TIN), and one patient was diagnosed with acute tubular necrosis (ATN). The grading of tubulointerstitial acute inflammation revealed 2 cases (case 4 and case 5) graded as (+++), with serum creatinine levels greater than 900 µmol/L at onset. Additionally, there were 2 cases (case 2 and case 3) gradedas (+), and 1 case (case 1)graded as (-), with serum creatinine levels approximately 400 µmol/L at onset. All 5 cases exhibited an interstitial fibrosis grade of (-). However, in the second renal biopsy following recurrence in case 4, the interstitial fibrosis grade increased to (++). In two patients with GTN, immunohistochemical staining revealed that the infiltrating lymphocytes were predominantly CD4 + T cells, which formed nodular granulomas and were surrounded by CD8 + T cells. A favorable response to steroid therapy was noted in all cases, especially in case 1, 2, and 3. CONCLUSIONS: The pathological manifestations of RS primarily consist of acute TIN with or without granuloma formation. Quantifying the pathological grade may assist in guiding treatment decisions and predicting prognosis.
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