Exploring the histogenesis of STK11 adnexal tumour using electron microscopy
We report the ultrastructural features of two STK11 adnexal tumours and compare their ultrastructural features with those of other sex cord stromal tumours, a granulosa cell tumour cell line, as well as the known ultrastructural features of epithelial, mesothelial and Wolffian cells. On ultrastructural examination, two STK11 adnexal tumours showed an admixture of elongated cells with regular elongated nuclei and polygonal cells with nuclei showing markedly irregular outlines and prominent nucleoli. Extracellular collagen fibres were identified. These are common ultrastructural features of sex cord stromal tumours, principa...
Source: Virchows Archiv - February 20, 2024 Category: Pathology Source Type: research

Myeloid sarcoma with RBM15::MRTFA (MKL1) mimicking vascular neoplasm
AbstractExtramedullary involvement of acute myeloid leukemia (AML), aka myeloid sarcoma, is a rare phenomenon in acute megakaryoblastic leukemia withRBM15:: MRTFA(MKL1) fusion, which might mimic non-hematologic malignancies. A 7-month-old infant presented with leukocytosis, hepatosplenomegaly, multiple lymphadenopathies, and a solid mass in the right thigh. Initially, the patient was diagnosed with a malignant vascular tumor regarding the expression of vascular markers from the biopsy of the right thigh lesion that was performed after the inconclusive bone marrow biopsy. The second bone marrow biopsy, which was performed d...
Source: Virchows Archiv - February 20, 2024 Category: Pathology Source Type: research

Differentiating BRAF V600E- and RAS-like alterations in encapsulated follicular patterned tumors through histologic features: a validation study
This study aimed to validate an 8-score scale nuclear scoring system and investigate the importance of nuclear pseudoinclusions (NPIs) in aiding this differentiation. A cohort of 44 encapsulated follicular-patterned tumors with varying degrees of nuclear atypia and confirmedBRAF V600E orRAS alterations was studied. Nuclear parameters (area, diameter, and optical density) were analyzed using a deep learning model. Twelve pathologists from eight Asian countries visually assessed 22 cases after excluding the cases with any papillae. Eight nuclear features were applied, yielding a semi-quantitative score from 0 to 24. A thresh...
Source: Virchows Archiv - February 16, 2024 Category: Pathology Source Type: research

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism
We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline “hotspot” missenseDICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WTDICER1 allele. (Source: Virchows Archiv)
Source: Virchows Archiv - February 14, 2024 Category: Pathology Source Type: research

Optimizing the management of thyroid specimens to efficiently generate whole slide images for diagnosis
This study evaluated the impact of using different inking colours for the surgical margin, section thickness, and glass slide type, in the consumption of time and archive. The series comprehended 40 nodules from 30 patients, including 34 benign nodules in follicular nodular disease, 1 NIFTP, and 5 papillary carcinomas. In 12 nodules, the dominant pattern was microfollicular/solid and in 28 it was macrofollicular. Scanning times/mm2 were longer in red-inked fragments in comparison to green (p = 0.04) and black ones (p = 0.024), and in blue-inked in comparison to green ones (p = 0.043). File sizes/mm2 were larger...
Source: Virchows Archiv - February 14, 2024 Category: Pathology Source Type: research

Heterogeneity of molecular subtyping and therapy-related marker expression in primary tumors and paired lymph node metastases of small cell lung cancer
This study highlights the discordance of subtype-specific proteins and therapeutic markers between SCLC primary tumors and LN metastases. Additionally, our findings have therapeutic a nd prognostic implications and warrant further clinical investigation. (Source: Virchows Archiv)
Source: Virchows Archiv - February 13, 2024 Category: Pathology Source Type: research

Loss of or decrease in CD30 expression in four patients with anaplastic large cell lymphoma after brentuximab vedotin-containing therapy
In conclusion, 44% of ALCL patients, regardless of histological subtypes, showed a loss of/decrease in CD30 expression after receiving BV-containing th erapy, but this phenomenon was not observed in CHL patients. A higher cumulative dose of BV and a lower amount of CD30 antigen in tumor cells in the initial biopsy materials might be predictors of a loss of/decrease in CD30 expression in ALCL patients. (Source: Virchows Archiv)
Source: Virchows Archiv - February 13, 2024 Category: Pathology Source Type: research

Comparative epigenomics indicate a common origin of ectopic and intrasellar corticotroph pituitary neuroendocrine tumors/adenomas: a case report
We report on the clinical course of an 81-year-old patient with sphenoid ectopic sparsely granulated corticotroph PitNET/adenoma and deploy genome-wide DNA methylation analysis to compare its methylation profile to a reference cohort of sellar neoplasms. Genome-wide methylation analysis revealed an epigenomic profile analogous to reference sellar corticotroph PitNET/adenomas, and the copy number variation profile showed loss of chromosomes 18 and 22. The methylation profile shows concordance with sellar corticotroph PitNET/adenomas suggesting a common cellular origin and confirming the reliability of methylation analyses a...
Source: Virchows Archiv - February 12, 2024 Category: Pathology Source Type: research

Small cell osteosarcoma versus fusion-driven round cell sarcomas of bone: retrospective clinical, radiological, pathological, and (epi)genetic comparison with clinical implications
In conclusion, discrimination of SCOS, epigenetically related to COS, versus FDRCS of bone can be challenging but is important due to different biology and therefore therapeutic strategies. Methylation profiling is a reliable and robust diagnostic test especially on decalcified FFPE material. Subsequent fusion gene analysis and/or use of specific immunohistochemical surrogate markers can be used to substantiate the diagnosis. (Source: Virchows Archiv)
Source: Virchows Archiv - February 9, 2024 Category: Pathology Source Type: research

Deep learning model to differentiate Crohn ’s disease from intestinal tuberculosis using histopathological whole slide images from intestinal specimens
This study aimed to apply deep learning (DL) to analyze whole slide images (WSI) of surgical resection specimens to distinguish CD from I TB. Overall, 1973 WSI from 85 cases from 3 centers were obtained. The DL model was established in internal training and validated in external test cohort, evaluated by area under receiver operator characteristic curve (AUC). Diagnostic results of pathologists were compared with those of the DL model using DeLong’s test. DL model had case level AUC of 0.886, 0.893 and slide level AUC of 0.954, 0.827 in training and test cohorts. Attention maps highlighted discriminative areas and top 10...
Source: Virchows Archiv - February 8, 2024 Category: Pathology Source Type: research

Spatial expression of claudin 18.2 in matched primaries and metastases of tubo-ovarian carcinoma of all subtypes
AbstractPhysiologically, claudin 18 splice variant 2 (CLDN18.2) expression is restricted to the gastric epithelium, but its expression has been detected in solid cancers. Zolbetuximab, a chimeric IgG1 antibody targeting CLDN18.2, has demonstrated promising effects in patients suffering from CLDN18.2-positive, HER2-negative locally advanced gastric cancer and is currently being studied further. To date, little is known about CLDN18.2 expression in other histological subtypes of tubo-ovarian carcinoma (TOC) and their matching metastases.Using a cohort of all histological TOC subtypes, we investigated the immunohistochemical ...
Source: Virchows Archiv - February 7, 2024 Category: Pathology Source Type: research

Pigmented dentinogenic ghost cell tumor: a unique case report and a review of the literature
In this report, we describe a unique case of a 7-year-old girl that was referred to the Department of Oral and Maxillofacial Surgery complaining of a left mandibular swelling. Clinical examination revealed a huge, ulcerated mass. Both incisional and excisional biopsies revealed a benign infiltrative odontogenic tumor with admixed ameloblast-like cells and pigmented ghost cells, consistent with a pigmented dentinogenic ghost cell tumor. To the best of our knowledge, this is the youngest case of intraosseous dentinogenic ghost cell tumor reported in the English literature and the second report of a pigmented variant. This ra...
Source: Virchows Archiv - February 7, 2024 Category: Pathology Source Type: research

Molecular pathological classification of colorectal cancer —an update
AbstractColorectal cancer (CRC) has a broad range of molecular alterations with two major mechanisms of genomic instability (chromosomal instability and microsatellite instability) and has been subclassified into 4 consensus molecular subtypes (CMS) based on bulk RNA sequence data. Here, we update the molecular pathological classification of CRC with an overview of more recent bulk and single-cell RNA data analysis for development of transcriptional classifiers and risk stratification methods, taking into account the marked inter-tumoural and intra-tumoural heterogeneity of CRC. The importance of the stromal and immune com...
Source: Virchows Archiv - February 6, 2024 Category: Pathology Source Type: research

IgG4-related disease: an update on pathology and diagnostic criteria with a focus on salivary gland manifestations
AbstractImmunoglobulin G4-related disease (IgG4-RD) is a multi-organ disorder characterized by a highly variable clinical presentation depending on the affected organ/s, extent of tumefactive fibroinflammatory lesions, and associated functional impairment. The disease pursues a chronic, relapsing, often asymptomatic course and hence may pose a significant diagnostic challenge. Diagnostic delay can lead to progressive fibrosis and irreversible organ damage resulting into significant morbidity and even mortality. Given its broad clinical spectrum, physicians of all specialties may be the first clinicians facing this diagnost...
Source: Virchows Archiv - February 5, 2024 Category: Pathology Source Type: research

Correction to: Differential HLA class I subunit (A, B, C heavy chain and β2-microglobulin) expression levels in normal tissues
(Source: Virchows Archiv)
Source: Virchows Archiv - February 5, 2024 Category: Pathology Source Type: research