Using Systemised Nomenclature of Medicine (SNOMED) codes to select digital pathology whole slide images for long-term archiving
The archiving of whole slide images represents a hurdle to digital pathology implementation largely because of the amount of data generated. The retention of glass slides is currently recommended for a minimum of 10 years, but it is for individual departments to determine how digital images are archived and for how long. In a retrospective study, we examined the combination of Systemised Nomenclature of Medicine (SNOMED) codes allocated to cases reported between July 2011 and December 2015 and recalled more than 12 months after diagnosis in comparison to non-recalled cases.
Our results show that 0.2% of cases are recalled ...
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Ali, M., Evans, H., Whitney, P., Minhas, F., Snead, D. R. J. Tags: Open access Short report Source Type: research
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome
In this study, the molecular mechanism behind four extracutaneous tumours in patients with BCNS was elucidated. A leiomyoma of the testis and meningioma were confirmed to be associated with BCNS in two patients by presence of a second mutation or loss of heterozygosity in PTCH1. In a meningioma of a patient with a mosaic postzygotic PTCH1 mutation an association could not be conclusively confirmed. SUFU was probably not involved in the development of a thyroid carcinoma in a patient with a germline SUFU mutation. Hence, we have proven that meningioma and leiomyoma of the testis are rare extracutaneous tumours that are part...
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Verkouteren, B. J., Roemen, G. M., Schuurs-Hoeijmakers, J. H., Abdul Hamid, M., van Geel, M., Speel, E.-J. M., Mosterd, K. Tags: Short report Source Type: research
Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members
Conclusions
These findings were the first to provide important information about the presence of Inv22 and point mutation in Vietnamese patients with HA, the mothers and their female family members. It demonstrated that genetic diagnosis and counselling for HA carriers were essential factors for future improvements in comprehensive and equitable healthcare polices for patients with HA and FCs in Vietnam. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Nguyen, B. S. T., Le, X. T. T., Huynh, N., Nguyen, H. H., Truong Nguyen, C.-M., Nguyen, B. H. Tags: Open access Original research Source Type: research
Faster than light (microscopy): superiority of digital pathology over microscopy for assessment of immunohistochemistry
Conclusions
With appropriate interface design, it is quicker to review immunohistochemical slides using a digital microscope than the conventional light microscope, without incurring any major diagnostic errors. As digital pathology becomes more integrated with routine clinical workflow and pathologists increase their experience of the technology, it is anticipated that other tasks will also become more time-efficient. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Clarke, E., Doherty, D., Randell, R., Grek, J., Thomas, R., Ruddle, R. A., Treanor, D. Tags: Open access Original research Source Type: research
Biomarker testing strategies in non-small cell lung cancer in the real-world setting: analysis of methods in the Prospective Central Lung Cancer Biomarker Registry (LungPath) from the Spanish Society of Pathology (SEAP)
Conclusions
The real-world evidence obtained from LungPath shows the effort of Spanish hospitals in performing biomarker determination in NSCLC with different methodologies despite that next-generation sequencing (NGS) utilisation in the year of the analysis was low. Biomarker determination results could be optimised with the incorporation of sequencing methods such as NGS in pathology departments. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Martin-Lopez, J., Rojo, F., Martinez-Pozo, A., Hernandez-Iglesias, T., Carcedo, D., de Alda, L. R., Garcia, J. F., Salas, C. Tags: Open access Original research Source Type: research
Cytomorphological characterisation of angioimmunoblastic T cell lymphoma: a case-control study
Conclusions
The absence of tingible body macrophages, presence of atypical lymphoid cells and singly scattered epithelioid cells in polymorphic LN-FNAs are significant cytomorphological predictors of AITL in comparison with RLH. Knowledge of these diagnostic predictors, supplemented by clinicoradiological correlation and appropriate ancillary studies, can help diagnose AITL on aspiration cytology. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Gupta, P., Gupta, N., Bal, A., Rastogi, P., Prakash, G., Malhotra, P., Dey, P., Srinivasan, R., Das, A. Tags: Original research Source Type: research
BAP1-deficient meningioma presenting with trabecular architecture and cytokeratin expression: a report of two cases and review of the literature
Conclusions
We suggest that BAP1-deficient meningioma should be considered in the differential diagnosis of extra-axial central nervous system (CNS) tumours with atypical imaging or histopathological features and that BAP1 loss may constitute a clinically important meningioma subtype with opportunities for targeted therapy. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Landry, A. P., Wang, J. Z., Nassiri, F., Patil, V., Gao, A., Zadeh, G. Tags: Original research Source Type: research
Prognostic significance of tumour budding, tumour-stroma ratio and desmoplastic stromal reaction in gall bladder carcinoma
Conclusion
A high TBd, low TSR and immature DSR were significantly associated with several high-risk clinicopathological parameters and poor OS in GBC. These novel, simple, reproducible and cost-effective parameters may be included in the routine reporting checklist for GBC as additional prognostic parameters that can substratify the high-risk patients. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Goyal, S., Banga, P., Meena, N., Chauhan, G., Sakhuja, P., Agarwal, A. K. Tags: Original research Source Type: research
From alchemy to personalised medicine: the journey of laboratory medicine
This review summarises the long period in which man has approached nature to understand its powers, and has tried to control it through physical and chemical, and also magical, practices. From the attempt to manage nature to the development of primordial drugs and medical practices and later to achieve modern biomedical science, laboratory practices always played a pivotal role. Over the years and centuries, the laboratory has acquired more and more importance in the improvement of health.
In addition to the well-known importance of laboratory medicine in the early diagnosis and appropriateness, the discoveries of the last...
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Verna, R. Tags: Review Source Type: research
My approach to bowel ischaemia
This article serves to dispel both misconceptions. It also provides guidance on how clinical information, macroscopic handling and microscopic assessment—and especially the interlinking of all three—can maximise the diagnostic yield of these specimens. This diagnostic process requires recognition of the wide range of causes of intestinal ischaemia, including several more recently described entities. Pathologists should also be aware of when and why such causes cannot be discerned from a resected specimen and of how certain artefacts or differential diagnoses can mimic ischaemia. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Wong, N. A. Tags: Review Source Type: research
Tumour grading: communication is the key
Tumour grade used in conjunction with other prognostic parameters, such as tumour type, stage and biomarker status, is a critical determinant of patient management in several cancers, especially those that are organ-confined. Pathologists therefore strive for precise grading and there have been ongoing efforts to facilitate grading reproducibility. We explain why this focus on precision may not be necessary in some cases and highlight the critical importance of optimally communicating the histopathological findings in cases where grading is borderline. We also discuss potential issues with the current trend to reduce the n...
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Varma, M., Delahunt, B., Cheng, L., Chetty, R., Comperat, E., Deshpande, V., Egevad, L., van der Kwast, T. H., Lopez-Beltran, A., McCluggage, W. G. Tags: Editor's choice Viewpoint Source Type: research
MDM2 for the practicing pathologist: a primer
This article provides a concise overview of the MDM2 gene and discusses practical diagnostic applications pertaining to human tumour biology. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - April 19, 2023 Category: Pathology Authors: Menon, A. A., Deshpande, V., Suster, D. Tags: Gene of the month Source Type: research
Mapping the current state of the medical specialties in laboratory medicine in Italy
Laboratory medicine is the single highest volume medical activity and it plays an increasingly essential role in the modern healthcare systems. In vitro diagnostic tests are now used in virtually every aspect of the patient care, including disease prevention, diagnosis, disease monitoring as well as personalised medicine. Nevertheless, the profession of laboratory medicine differs between countries in many respects, such as specialist training (medical or scientific), fields of interest, responsibilities and professional organisation. Many attempts have been made to quantify the role of laboratory medicine in patient outco...
Source: Journal of Clinical Pathology - March 17, 2023 Category: Pathology Authors: Schiavinato, A. Tags: Short report Source Type: research
Benchmarking bioinformatics approaches for tumour mutational burden evaluation from a large cancer panel against whole-exome sequencing
In this study, we explored TMB calculation approaches with a 586-gene cancer panel (1.75 Mb) benchmarked to TMB measured by whole-exome sequencing (WES), using 30 samples across a range of tumour types. We explored variant allelic fraction (VAF) cut-offs of 5% and 10%, population database filtering at 0.001, 0.0001 and 0.000025, as well as different combinations of synonymous, insertion/deletion and intronic (splice site) variants, as well as exclusion of hotspot mutations, and examined the effect on TMB correlation. Good correlation (Spearman, range 0.66–0.78) between WES and panel TMB was seen across all methods ev...
Source: Journal of Clinical Pathology - March 17, 2023 Category: Pathology Authors: Pang, J., Xia, H., Mi, S., Zhang, W., Pendrick, D., Freeman, C., Fernandes, H., Mansukhani, M., Hsiao, S. J. Tags: Short report Source Type: research
Discrepancy in the use and interpretation of marker sutures among plastic surgeons and pathologists
Marker sutures are often used for excised cutaneous lesions to aid histological analysis, however, there are no current guidelines to facilitate this in practice. The authors hypothesised that a lack of guidelines causes a variation in clinical practice and confusion of meaning between plastic surgeons and pathologists. This questionnaire-based study confirms the authors’ hypothesis and highlights a discrepancy both between surgeons and in individual surgical practice. More importantly, we identify discord between histopathologists and plastic surgeons in relation to marker suture placement and report interpretation,...
Source: Journal of Clinical Pathology - March 17, 2023 Category: Pathology Authors: Jones, E., Patel, C., Mudaliar, V., Ismail, A. Tags: Short report Source Type: research
