Granulomas in bone marrow biopsies: clinicopathological significance and new perspectives
Bone marrow granulomas in trephine biopsies are a rare and usually incidental finding. Possible causes include infectious (especially tuberculous and rarer non-tuberculous mycobacteria, but also many other bacterial, viral, fungal and parasitic agents) and non-infectious causes (especially medications, autoimmune disease, sarcoidosis, haematological and non-haematological malignancy). Necrotising granulomas are generally suggestive of an infectious aetiology (tuberculosis being the most common), whereas fibrin ring granulomas are associated with Q-fever and Epstein Barr Virus, although exceptions are possible. Every case s...
Source: Journal of Clinical Pathology - December 14, 2023 Category: Pathology Authors: Maccio, U., Gianolio, A., Rets, A. V. Tags: Review Source Type: research
Gene of the month: cancer testis antigen gene 1b (NY-ESO-1)
Cancer testis antigen gene 1B (CTAG1B) and its associated gene product; New York oesophageal squamous carcinoma 1 (NY-ESO-1), represent a unique and promising target for cancer immunotherapy. As a member of the cancer testis antigen family (CTA), the protein’s restricted expression pattern and ability to elicit spontaneous humoural and cellular immune responses has resulted in a plethora of novel modalities and approaches attempting to harness its immunotherapeutic anti-cancer potential. Here, we discuss the structure and function of CTAG1B/NY-ESO-1 in both health and disease, immunohistochemical detection, as well a...
Source: Journal of Clinical Pathology - December 14, 2023 Category: Pathology Authors: Julve, M., Kennedy, O., Frampton, A. E., Bagwan, I., Lythgoe, M. P. Tags: Editor's choice, Gene of the month Source Type: research
Droplet digital PCR (ddPCR) using FFPE DNA to assess methylation status of MGMT gene among patients with IDH mutant astrocytoma and IDH wild-type glioblastoma
MGMT promoter methylation analysis in formalin-fixed paraffin-embedded (FFPE) tissues can be challenging since the DNA obtained is often fragmented. Bisulfite conversion, which is essential to determine methylation status, further degrades DNA. While conventional methylation-specific PCR (MSP) and pyrosequencing assays have long been used to determine the methylation status of MGMT, this study was designed to determine the utility of one-tube DNA extraction method coupled with a droplet digital PCR (ddPCR) assay, to study the epigenetic changes in the promoter region of the MGMT gene using DNA obtained from FFPE.
The FFPE ...
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Abarna, R., J, R., chacko, G., Pai, R. Tags: Short report Source Type: research
One-step embedding method for maintaining orientation of pathological tissue specimens using agar thin films
In this study, we present a method of maintaining tissue fragment order and orientation using a thin film of ultra-high-strength agar and evaluate its usefulness during tissue sectioning.
Cassettes were prepared, each containing three pieces of porcine liver, and compared embedding time with and without agar thin films (ATFs). Embedding was performed by three medical laboratory scientists with different levels of experience.
To enable one-step tissue sample embedding, ATFs were integrated with samples in the cassettes. This resulted in an average reduction of 6.22 s of embedding time per cassette compared with traditional ...
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Uchiyama, A., Kimura, F., Wakatsuki, Y., Yoshida, E., Kato, A., Kato, K., Yoshida, R., Ito, Y., Okimura, A., Nakatsugawa, M. Tags: Best practice Source Type: research
Barretts oesophagus with indefinite for dysplasia shows high rates of prevalent and incident neoplasia in a UK multicentre cohort
Conclusions
IDD carries significant risk of progression to dysplasia or neoplasia. Therefore, careful diagnosis and management aided by clear histological reporting of these cases is required to diagnose prevalent and incident neoplasia. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Kopczynska, M., Ratcliffe, E., Yalamanchili, H., Thompson, A., Nimri, A., Britton, J., Ang, Y. Tags: Original research Source Type: research
Thrombin generation assay and lupus anticoagulant synergically distinguish populations of patients with antiphospholipid antibodies
Conclusions
TGA seems a valuable approach to stratify aPL+ patients according to their risk profile. The differences among different populations of autoantibodies specificities could be considered a translational validation of the increased thrombotic risk of patients with triple or tetra aPL-positivity. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Radin, M., Barinotti, A., Cecchi, I., Foddai, S. G., Rubini, E., Roccatello, D., Menegatti, E., Sciascia, S. Tags: Original research Source Type: research
Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss
Conclusion
Our data have demonstrated that SERPINE1 and ACE gene polymorphisms, individually or in combination, appear to be a significant risk for RPL. This data may be useful in adding to the knowledge on inherited thrombophilia as an important contributor to RPL pathogenesis. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Miljanovic, O., Ilic, V., Teofilov, S., Cikota-Aleksic, B., Magic, Z. Tags: Original research Source Type: research
Molecular characterisation of Hb Akron [{beta}52 (D3) Asp->Val] combined with thalassaemia in a Chinese family
Conclusions
We have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: He, S., Wang, B., Yi, S., Huang, Z., Liang, L., Peng, Z., Song, P., Chen, B., Chen, F., Wei, H. Tags: Original research Source Type: research
Independent reporting in oral and maxillofacial pathology
Conclusions
This study suggests that there is a disparity in the way IR is used in OMFP training across the UK. There was shared concern between consultants and trainees regarding the lack of clear guidance and subsequent fear of litigation. These are issues that need to be addressed if trainees are to have a similar experience across the country and be prepared for independent practice on completion of training. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Gorania, R., Hunter, K., Hall, G., Brierley, D. J. Tags: Original research Source Type: research
HER2-low in gastro-oesophageal adenocarcinoma: a real-world pathological perspective
Conclusions
This work shows how the expansion of the HER2 spectrum might raise problems in reproducibility, especially in biopsy specimens, decreasing interlaboratory and interobserver concordance. If controlled trials confirm the promising activity of novel anti-HER2 agents in HER2-low gastro-oesophageal cancers, a shift in the interpretation of HER2 status may need to be pursued. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Angerilli, V., Parente, P., Campora, M., Ugolini, C., Battista, S., Cassoni, P., Gambella, A., Cavallin, F., De Lisi, G., Vanoli, A., Grillo, F., Mastracci, L., Fassan, M. Tags: Original research Source Type: research
Her2 low (but not negative): the newest biomarker on the block for gastro-oesophageal adenocarcinoma
This study is in line with prevalence data from another recent study that showed HER2 low prevalence is approximately 21% in patient with inoperable or metastatic gastric carcinoma.2 Trastuzumab for HER2 overexpression/ HER2 amplification was one of the first target therapies for solid tumour, and it... (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Hechtman, J. F. Tags: Editorials Source Type: research
Emerging mesenchymal tumour types and biases in the era of ubiquitous sequencing
New tumour types are being described at increasing frequency, and most new tumour types are now identified via retrospective review of next-generation sequencing data. This contrasts with the traditional, morphology-based method of identifying new tumour types, and while the sequencing-based approach has accelerated progress in the field, it has also introduced novel and under-recognised biases. Here, we discuss tumour types identified based on morphology, including superficial CD34-positive fibroblastic tumour, pseudoendocrine sarcoma and cutaneous clear cell tumour with melanocytic differentiation and ACTIN::MITF fusion....
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Towery, E. A., Papke, D. J. Tags: Editor's choice Review Source Type: research
FOXL2: a gene central to ovarian function
The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome. The somatic missense mutation in FOXL2 (FOXL2 C134W) is now known to be the defining molecular feature of adult-type granulosa cell tumour of the ovary, present in over 90% of cases of this tumour type. Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. However, expression is not restricted to lesions ...
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Mubeen, A., Parra-Herran, C. Tags: Gene of the month Source Type: research
Gene of the month: GATA3
GATA binding protein 3 (GATA3) is a zinc-finger pioneer transcription factor involved in diverse processes. GATA3 regulates gene expression through binding nucleosomal DNA and facilitating chromatin remodelling. Post-translational modifications modulate its activity. During development, GATA3 plays a key role in cell differentiation. Mutations in GATA3 are linked to breast and bladder cancer. GATA3 expression is a feature of the luminal subtype of bladder cancer and has implications for immune status and therapeutic response. It also has clinical relevance in squamous cell carcinomas and soft tissue sarcomas. This paper re...
Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: Qiang, Z., Jubber, I., Lloyd, K., Cumberbatch, M., Griffin, J. Tags: Gene of the month Source Type: research
Artificial intelligence (AI) molecular analysis tool assists in rapid treatment decision in lung cancer: a case report
Leptomeningeal involvement among non-small cell lung cancer (NSCLC) patients is an aggressive form of disease that requires quick and efficient treatment. In this case report, we describe a woman in her 40s with a presenting symptom of headache that ultimately was diagnosed as leptomeningeal spread from NSCLC adenocarcinoma. We identified EGFR mutation in less than 48 hours from the biopsy using imagene-artificial intelligence’s real-time algorithmic solution on the pathological diagnostic slide. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2023 Category: Pathology Authors: Waissengrin, B., Garasimov, A., Bainhoren, O., Merimsky, O., Shamai, S., Erental, A., Wolf, I., Hershkovitz, D. Tags: Open access Short report Source Type: research