SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma
AbstractSMARCB1-deficient sinonasal adenocarcinoma is a rare variant of SWI/SNF-deficient malignancies with SMARCB1 loss and adenocarcinoma features. More than 200 high-grade epithelial sinonasal malignancies were retrieved. A total of 14 cases exhibited complete SMARCB1 (INI1) loss and glandular differentiation. SMARCA2 and SMARCA4 were normal, except for one case with a loss of SMARCA2. Next-generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH) revealed an alteration in theSMARCB1 gene in 9/13 cases, while 2/13 were negative. Two tumors harboredSMARCB1 mutations in c.157C > T p.(Arg53Ter) ...
Source: Virchows Archiv - December 12, 2023 Category: Pathology Source Type: research
SATB2, CKAE1/AE3, and synaptophysin as a sensitive immunohistochemical panel for the detection of lymph node metastases of Merkel cell carcinoma
This study was undertaken to determine the most sensitive immunohistochemical panel for detecting MCC nodal metastases. We included 56 patients with 102 metastatic MCC lymph nodes, which were tested with seven antibodies: cytokeratin (CKAE1/AE3), CK20, chromogranin A, synaptophysin, INSM1, SATB2, and neurofilament (NF). Tissue microarrays (TMA) composed of 2-mm tissue cores from each nodal metastasis were constructed. A semiquantitative 5-tier scoring system (0%, < 25%, 25–74%, 75–99%, 100% positive MCC cells with moderate to strong reactivity) was implemented. In the statistical assessment, we included Merkel...
Source: Virchows Archiv - December 8, 2023 Category: Pathology Source Type: research
Prevalence and interpretation of AFF immunostain of DEK::AFF2 fusion-associated papillary squamous cell carcinoma in a retrospective cohort of recurrent sinonasal papillomas
In this study, AFF immunohistochemistry (IHC) was performed in recurrent sinonasal papillomas for reviewing the prevalence of undiagnosedDEK::AFF2 carcinomas and to investigate the performance of AFF IHC in diagnosis ofDEK::AFF2 carcinomas. Recurrent sinonasal papillomas after surgical excision in a two-decade period were retrieved. Histologic slides were reviewed for features ofDEK::AFF2 carcinoma. AFF IHC was performed, and cases with any (> 1%) nuclear positivity were validated byDEK break apart fluorescence in situ hybridization. Totally 43 cases were included, comprising 28 inverted, 6 exophytic, one oncocytic, ...
Source: Virchows Archiv - December 8, 2023 Category: Pathology Source Type: research
Correction to: HER2 copy number determination in breast cancer using the highly sensitive droplet digital PCR method
(Source: Virchows Archiv)
Source: Virchows Archiv - December 7, 2023 Category: Pathology Source Type: research
Letter to the editor on Donzel M et al. “Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution”
(Source: Virchows Archiv)
Source: Virchows Archiv - December 5, 2023 Category: Pathology Source Type: research
Postponing evolution: why are we choosing to ignore the need for a digital transformation in pathology?
(Source: Virchows Archiv)
Source: Virchows Archiv - December 4, 2023 Category: Pathology Source Type: research
In this issue
(Source: Virchows Archiv)
Source: Virchows Archiv - December 1, 2023 Category: Pathology Source Type: research
Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools
AbstractMolecular testing in breast cancer gained increasing attention and importance as specific molecular results can tailor not only oncological decisions on systemic adjuvant or neoadjuvant or in metastatic setting, but increasingly serve in diagnostic routine histopathological services to differentiate between morphologically overlapping or ambiguous histological pictures. Diagnostic tools involve in most cases a broad spectrum of immunohistochemical panels, followed by entity-specific in situ hybridization probes and in given cases NGS-based sequencing. Workflow of which methodology is applied and in which order de...
Source: Virchows Archiv - November 28, 2023 Category: Pathology Source Type: research
Immunohistochemical markers as predictors of prognosis in multifocal prostate cancer
In conclusion, our results indicate that UF and MF PCa have relevant and consistent molecular differences. The analysis of an immunohistochemical panel, c omposed by PTEN, SPOP, SLC45A3, ETV1 and ERG, could be useful to predict outcome in MF cases. (Source: Virchows Archiv)
Source: Virchows Archiv - November 28, 2023 Category: Pathology Source Type: research
Molecular pathology as basis for timely cancer diagnosis and therapy
AbstractPrecision and personalized therapeutics have witnessed significant advancements in technology, revolutionizing the capabilities of laboratories to generate vast amounts of genetic data. Coupled with computational resources for analysis and interpretation, and integrated with various other types of data, including genomic data, electronic medical health (EMH) data, and clinical knowledge, these advancements support optimized health decisions. Among these technologies, next-generation sequencing (NGS) stands out as a transformative tool in the field of cancer treatment, playing a crucial role in precision oncology. N...
Source: Virchows Archiv - November 28, 2023 Category: Pathology Source Type: research
Pathologic approach to Neonatal cholestasis with a simple scoring system for biliary atresia
AbstractA liver biopsy is essential for the diagnostic workup of persistent neonatal cholestasis (NC). The differential diagnosis of NC is broad, including obstructive and non-obstructive causes. In addition, histologic features of certain disorders may be non-specific in the early course of the disease. To evaluate liver biopsies using a practical histopathologic approach for NC and to define a simple scoring system for biliary atresia (BA) for routine clinical practice. From June 2006 to December 2021, liver biopsy specimens from infants with persistent NC were examined by two independent pathologists. The cases diagnose...
Source: Virchows Archiv - November 27, 2023 Category: Pathology Source Type: research
Glyoxal acid-free (GAF) histological fixative is a suitable alternative to formalin: results from an open-label comparative non-inferiority study
AbstractFormalin, an aqueous solution of formaldehyde, has been the gold standard for fixation of histological samples for over a century. Despite its considerable advantages, growing evidence points to objective toxicity, particularly highlighting its carcinogenicity and mutagenic effects. In 2016, the European Union proposed a ban, but a temporary permission was granted in consideration of its fundamental role in the medical-diagnostic field. In the present study, we tested an innovative fixative, glyoxal acid-free (GAF) (a glyoxal solution deprived of acids), which allows optimal tissue fixation at structural and molecu...
Source: Virchows Archiv - November 24, 2023 Category: Pathology Source Type: research
The practical utility of AI-assisted molecular profiling in the diagnosis and management of cancer of unknown primary: an updated review
In conclusion, AI- and ML-driven approaches are revolutionizing CUP management by enhancing diagnostic accuracy. Precision oncology utilizing enhanced molecular profiling facilitates the identification of targeted therapies that transcend the need to identify the tissue of origin, ultimately improving patient outcomes. (Source: Virchows Archiv)
Source: Virchows Archiv - November 24, 2023 Category: Pathology Source Type: research
Genomic alterations and diagnosis of renal cancer
AbstractThe application of molecular profiling has made substantial impact on the classification of urogenital tumors. Therefore, the 2022 World Health Organization incorporated the concept of molecularly defined renal tumor entities into its classification, including succinate dehydrogenase –deficient renal cell carcinoma (RCC), FH-deficient RCC, TFE3-rearranged RCC, TFEB-altered RCC, ALK-rearranged RCC, ELOC-mutated RCC, and renal medullary RCC, which are characterized by SMARCB1-deficiency. This review aims to provide an overview of the most important molecular alterations in renal cancer, with a specific focus on the...
Source: Virchows Archiv - November 24, 2023 Category: Pathology Source Type: research
HER2 copy number determination in breast cancer using the highly sensitive droplet digital PCR method
AbstractHuman epidermal growth factor receptor 2 (HER)-positive breast cancer (BC) is characterized by an aggressive clinical course. In the case of HER2 overexpression/amplification, patients benefit from HER2-targeting therapies. Standardized diagnostic HER2 assessment includes immunohistochemistry (IHC) and/or in situ hybridization (ISH). The aim of this study was to compare this “gold standard” with the Droplet Digital™ polymerase chain reaction (ddPCR), a method that allows sensitive and precise detection of copy number variations (CNV) in FFPE (formalin-fixed, paraffin-embedded) DNA samples. Partitioning of the...
Source: Virchows Archiv - November 23, 2023 Category: Pathology Source Type: research
