CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma
AbstractCTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and...
Source: Virchows Archiv - January 6, 2024 Category: Pathology Source Type: research
Characterization of two transcriptomic subtypes of marker-null large cell carcinoma of the lung suggests different origin and potential new therapeutic perspectives
In conclusion, our study split the histological marker-null LCC into two different transcriptomic entities, withPOU2F3,FOXI1, andAIM2 genes as differential expression markers that might be probed by immunohistochemistry for the differential diagnosis between Pure-LCC and ADLike-LCC. Finally, the identification of several signatures linked to replication stress in Pure-LCC and inflammasome complex in ADLike-LCC could be useful for designing new potential therapeutic approaches for these subtypes. (Source: Virchows Archiv)
Source: Virchows Archiv - January 3, 2024 Category: Pathology Source Type: research
Giant bilateral prepubertal-type teratomas in a postpubertal patient: An illustrative case and review of the literature
AbstractPrepubertal-type teratomas are uncommon, especially in postpubertal male patients. We document a case of a 28-year-old man with a lifelong history of bilateral testicular masses who presented with scrotal fistulas and no clinical evidence of extratesticular disease. Bilateral radical orchiectomies demonstrated large bilateral solid and cystic masses that contained grossly visible hairs. Microscopically, both tumors consisted of pure teratomas comprising a mixture of mature tissues derived from the three embryonic layers. Germ cell neoplasia in situ was not identified, and fluorescence in situ hybridization studies ...
Source: Virchows Archiv - January 2, 2024 Category: Pathology Source Type: research
In this issue
(Source: Virchows Archiv)
Source: Virchows Archiv - January 1, 2024 Category: Pathology Source Type: research
NTRK-rearranged spindle cell sarcoma of the uterine cervix with a novel NUMA1::NTRK1 fusion
AbstractNTRK-rearranged uterine sarcoma is a recently described entity that represents a subset of uterine sarcomas with distinct clinicopathological features. From a molecular point of view, this tumour is defined byNTRK gene rearrangement, resulting in overexpression or constitutive activation of Trk receptors. The presence ofNTRK fusion is indicative of treatment response with a selective small-molecule inhibitor of the Trk kinases. Here, we report a case of anNTRK-rearranged sarcoma of the uterine cervix in a 43-year-old patient, measuring 80 mm in its largest dimension, with a novelNUMA1-NTRK1 fusion, not previously...
Source: Virchows Archiv - December 28, 2023 Category: Pathology Source Type: research
Analysis of GATA3 and FOXA2 expression suggests that downregulation of genes involved in the maintenance of a mature yolk sac tumor phenotype may underlie sarcomatoid transformation
AbstractIn the post-chemotherapy setting, germ cell tumors of the testis (GCTT) that resemble non-specific sarcomas and co-express cytokeratins and glypican-3 (GPC3) are diagnosed as “sarcomatoid yolk sac tumor postpubertal-type (YSTpt)”. The diagnosis of sarcomatoid YSTpt is clinically relevant but challenging due to its rarity, non-specific histology, and negative α-fetoprotein (AFP) staining. Recently,FOXA2 has emerged as a key-gene in the reprogramming of GCTT (activating the transcription of several genes, among whichGATA3), and immunohistochemical studies showed that GATA3 and FOXA2 have a higher sensitivity for...
Source: Virchows Archiv - December 23, 2023 Category: Pathology Source Type: research
Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting
AbstractMismatch repair (MMR) immunohistochemical (IHC) evaluation has entered pathology routine practice as the first-line screening method to identify patients with MMR deficient (MMRd)/microsatellite instability (MSI) colorectal cancer (CRC), and its misdiagnosis may significantly impact the personalization of CRC patient care. To determine the prevalence of MMR protein intratumor heterogeneity in real-world practice, we collected a series of 8282 CRCs tested for MMR proteins in the setting of Lynch syndrome universal screening. Four heterogenous cases were also investigated for tumor infiltrating lymphocytes count, MSI...
Source: Virchows Archiv - December 23, 2023 Category: Pathology Source Type: research
Correction to: The practical utility of AI-assisted molecular profiling in the diagnosis and management of cancer of unknown primary: An updated review
(Source: Virchows Archiv)
Source: Virchows Archiv - December 22, 2023 Category: Pathology Source Type: research
Shedding light on PRAME expression in dysplastic nevi: a cohort study
This study explorespreferentially expressed antigen in melanoma (PRAME) in dysplastic nevi, an uncharted area. We examined 22 common melanocytic nevi (CMN), 20 cutaneous melanomas (CM), 48 low-grade dysplastic nevi (LG-DN), and 40 high-grade dysplastic nevi (HG-DN). PRAME was immunohistochemically assessed using a five-tiered system (0 to 4 +). Among CMN, 59% scored 0, 32% scored 1 + , and 9% scored 2 + . CM had score 2 + and 4 + in 11% and 89% of cases, respectively. Among LG-DN, 38% presented score 0, 31% score 1 + , 17% score 2 + , 8% score 3 + , and 6% score 4 + . Thirty per cent of H...
Source: Virchows Archiv - December 19, 2023 Category: Pathology Source Type: research
Swiss digital pathology recommendations: results from a Delphi process conducted by the Swiss Digital Pathology Consortium of the Swiss Society of Pathology
AbstractIntegration of digital pathology (DP) into clinical diagnostic workflows is increasingly receiving attention as new hardware and software become available. To facilitate the adoption of DP, the Swiss Digital Pathology Consortium (SDiPath) organized a Delphi process to produce a series of recommendations for DP integration within Swiss clinical environments. This process saw the creation of 4 working groups, focusing on the various components of a DP system (1) scanners, quality assurance and validation of scans, (2) integration of Whole Slide Image (WSI)-scanners and DP systems into the Pathology Laboratory Informa...
Source: Virchows Archiv - December 19, 2023 Category: Pathology Source Type: research
Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance
AbstractTumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the main molecular alterations of tumors of the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. All endocrine gland tumors enjoy a robust correlation between genotype and phenotype. High-throughput molecular analysis demonstrates that endocrine gland tumors can be grouped into molecular groups that are relevant from both pathologic and clinical point of views. In this review, genetic alterations have been discussed and ...
Source: Virchows Archiv - December 18, 2023 Category: Pathology Source Type: research
Mutated ASXL1 upregulates mTOR expression in renal cell carcinoma with fibromyomatous stroma
AbstractRenal cell carcinoma with fibromyomatous stroma (RCC FMS), defined as an “emerging entity” in the 2016 WHO classification and recommended to be a novel entity by GUPS, is represented by tumor cells with clear to mildly eosinophilic cytoplasm displaying elongated and branching tubules and papillae. A fibromyomatous stroma could be observed in these tumors. These tumor s are immunopositive for CK7 and featured byELOC and/orTSC/mTOR gene mutations. In the 2022 WHO classification,ELOC mutated RCC is classified as a molecularly defined RCCs as an individual renal entity. However, there are limited descriptions ofTSC...
Source: Virchows Archiv - December 16, 2023 Category: Pathology Source Type: research
Molecular features for timely cancer diagnosis and treatment – tumors of the ovary, fallopian tube and endometrium
AbstractGynecologic pathology has moved, within only a few years, from being a diagnostic area devoid of molecular testing into a diagnostic discipline in which such analyses are becoming routine. The direct relevance of molecular characterization to the choice of treatment of patients with carcinomas originating in both the uterus and adnexae makes it likely that such testing will only expand along with our understanding of the molecular make-up of these tumors. As a consequence, gynecologic pathologists have become an integral part of patient management, rather than lab personnel providing external services.In parallel, ...
Source: Virchows Archiv - December 15, 2023 Category: Pathology Source Type: research
Molecular and histopathological characterization of seminoma patients with highly elevated human chorionic gonadotropin levels in the serum
In conclusion, excessively increased hCG serum levels can appear in patients with pure SEM. To explain detectable hCG serum levels, it is important to diagnose the subtype of a SEM with syncytiotrophoblasts. (Source: Virchows Archiv)
Source: Virchows Archiv - December 14, 2023 Category: Pathology Source Type: research
Nasal and sinonasal tumors formed by atypical adenomatous lesions arising in respiratory epithelial adenomatoid hamartoma/seromucinous hamartoma
We present 10 hitherto unrecognized benign polypoid nasal and sinonasal tumoriform lesions having in average 3.6 cm in largest dimension, which are histogenetically related to SH and REAH. In addition to typical structures of REAH and SH, these lesions contained an additional characteristic and slightly atypical adenomatous component, which we termed atypical sinonasal glands arising in SH (ASGSH). ASGSH oft en produced deep red colored secretion with peripheral clearing similar to that seen in thyroid follicles. In contrast to SH, ASGSH was endowed by both secretory and myoepithelial layers and had mostly angulated shap...
Source: Virchows Archiv - December 13, 2023 Category: Pathology Source Type: research
