Latest Research
All publications from the Cancer3.AI database, newest first.
CNS embryonal tumour with concomitant novel BRD4::CTRC1 fusion and BCOR internal tandem duplication - evidence for synergism and non-mutually exclusive alterations in CNS embryonal tumours.
Aw SJ, et al
Researchers report a rare case of a central nervous system (CNS) embryonal tumour — an aggressive brain cancer predominantly affecting children — that harboured two distinct genetic alterations simultaneously: a previously undescribed gene fusion called BRD4::CTRC1 and a well-known mutation known as BCOR internal tandem duplication (ITD). These two alterations were previously believed to occur independently of one another and not together in the same tumour, making this co-occurrence a significant and novel finding. The study provides molecular and pathological evidence suggesting that BRD4::CTRC1 and BCOR ITD may act synergistically, potentially cooperating to drive tumour development rather than representing redundant or competing oncogenic pathways. This challenges the existing classification framework for CNS embryonal tumours, which has assumed mutual exclusivity between such alterations. For clinicians, the findings highlight the importance of comprehensive molecular profiling in these tumours, as simultaneous alterations may influence prognosis and therapeutic decision-making. Identifying such co-occurring drivers could open avenues for combination-targeted therapies in future treatment strategies for these difficult-to-treat brain cancers.
Acta neuropathologica communications
Source →H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.
Marastoni E, et al
Researchers investigated whether rosette-forming glioneuronal tumors (RGNTs), a rare and typically benign brain tumor classified as WHO grade 1, can harbor the H3 K27M mutation and show loss of the H3 K27me3 protein marker — features normally associated with the far more aggressive diffuse midline glioma grade 4. In a study of seven RGNT cases, all tumors showed loss of H3 K27me3 immunostaining either completely or in a mosaic pattern, and one case additionally carried the H3 K27M mutation without any signs of increased tumor aggressiveness during 23 months of follow-up. This is clinically significant because diffuse midline glioma H3 K27-altered is diagnosed in part based on the same molecular features now identified in this benign tumor type, raising the risk of misdiagnosis. The danger is especially pronounced when only small biopsy specimens are available and the sample contains only the glial component of the RGNT, which can closely resemble a high-grade glioma. Clinicians and pathologists must be aware that H3 K27M mutation and H3 K27me3 loss are not exclusive to aggressive gliomas and that thorough histological and molecular workup is essential before assigning a grade 4 diagnosis. This study highlights an important diagnostic pitfall that, if overlooked, could lead to unnecessarily aggressive treatment of patients with a benign tumor.
Virchows Archiv : an international journal of pathology
Source →Demographics and additional haematologic cancers of patients with histiocytic/dendritic cell neoplasms.
Kemps PG, et al
Researchers from the Netherlands conducted a large population-based study of over 4,000 patients diagnosed with histiocytic disorders between 1993 and 2022, using data from the Dutch Nationwide Pathology Databank (Palga). Contrary to the widely held assumption that Langerhans cell histiocytosis (LCH) is the most common histiocytic disorder, the study found that xanthogranulomas were actually the most frequent subtype, with LCH and juvenile xanthogranuloma peaking in early childhood and males overrepresented across all subtypes. Among the patients studied, 118 also had an additional blood cancer, with 91% of these being adults at the time of their histiocytosis diagnosis. Genetic analysis in a subset of 16 such patients revealed that 11 shared identical mutations in both their histiocytic disorder and their additional blood cancer, strongly suggesting a common clonal origin. Notably, two patients carried a PAX5 mutation linking B-cell leukemia to secondary histiocytic sarcoma, and all four patients with myeloid cancers shared N/KRAS mutations, reinforcing the concept that these diseases can arise from the same abnormal cell clone. These findings urge clinicians to carefully screen adult histiocytosis patients for associated blood cancers and deepen the scientific understanding of how histiocytic and other haematologic malignancies are biologically connected.
Histopathology
Source →[Interpretation of histiocytic/dendritic cell neoplasms and stromal-derived neoplasms of lymphoid tissues in the 5th edition of WHO classification of haematolymphoid tumors].
Yin WH, et al
This article provides an expert interpretation of major revisions made to the chapters on histiocytic and dendritic cell neoplasms, as well as stromal-derived neoplasms of lymphoid tissues, in the newly published 5th edition of the World Health Organization (WHO) classification of hematolymphoid tumors. The updated classification introduces reclassifications and renamings of specific disease entities, reflecting advances in molecular genetics and clinical pathology. Key changes affecting clinical diagnosis, treatment strategies, and patient prognosis are highlighted, with particular attention to newly introduced disease categories. The authors provide special detail on follicular dendritic cell sarcoma, a rare tumor type for which one of the authors contributed the classification chapter, offering practical guidance for pathologists. These updates are significant for clinicians and pathologists worldwide, as the WHO classification serves as the international standard for diagnosing and managing blood and lymph node cancers.
Zhonghua bing li xue za zhi = Chinese journal of pathology
Source →Blastic Plasmacytoid Dendritic Cell Neoplasm: A Rare Entity in Clinical Practice.
Oliveira B, et al
Researchers present a case report of blastic plasmacytoid dendritic cell neoplasm (BPDCN), an exceedingly rare and aggressive blood cancer classified among histiocytic and dendritic cell tumors by the World Health Organization. The case involves an 85-year-old woman with a history of rheumatoid arthritis who developed low-grade fever, loss of appetite, and unexplained weight loss over one month. Diagnosis was confirmed through immunophenotyping of a bone marrow aspirate, highlighting the critical role of specialized laboratory analysis in identifying this elusive disease. The authors detail the clinical presentation, diagnostic process, treatment options, and patient outcomes to help clinicians recognize BPDCN more readily in practice. Given its rarity and aggressive nature, early detection and collaboration across medical specialties are emphasized as key factors in improving patient care and outcomes.
Cureus
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