Multi-neoplastic potentials including metachronous clonally unrelated nodal T-follicular helper cell lymphomas in clonal haematopoiesis
First report of SMARCA4-deficient carcinoma ex-pleomorphic adenoma in salivary glands
Neuroendocrine differentiation and serotonin expression in oesophageal adenocarcinomas after neoadjuvant therapy: correlation with clinicopathological features and outcome
Oesophageal adenocarcinoma (EAC) is a glandular or mucinous epithelial malignancy that can show immunohistochemical evidence of neuroendocrine differentiation (NED) and express the hormone serotonin. The objective of this study was to correlate the presence of NED and serotonin with clinicopathological characteristics and patient outcome after neoadjuvant chemoradiation.
Correlation between CTNNB1 mutation status and tumour phenotype in hepatitis B virus-related hepatocellular carcinoma
The frequency of CTNNB1 mutation, one of the most frequent genetic events in hepatocellular carcinoma (HCC), is lower in Asian countries and in hepatitis B virus (HBV)-related HCCs. In this study, we evaluated the prevalence and types of CTNNB1-mutation in HBV-related HCC and correlated the molecular status with the histomorphological and immunohistochemical features.
Shared immunohistochemical and genomic features of the low- and high-grade components of a cutaneous secretory carcinoma with epidermotrophism and lymph node involvement
Unexpectedly high variability in determining tumour extent in prostatic biopsies: implications for active surveillance
Tumour content in prostatic biopsies is an important indicator of prostate cancer volume and patient prognosis. Consequently, guidelines typically recommend reporting it as a percentage or linear length (mm). This study aimed to determine the current practices for reporting tumour content in prostatic biopsies and evaluated the consistency among pathologists in diagnosing 10 standard biopsy cases of prostate cancer to assess interobserver variability.
Sinonasal adenosquamous carcinomas arising in seromucinous hamartoma or respiratory epithelial adenomatoid hamartoma with atypical features: Report of five detailed clinicopathological and molecular characterisation of rare entity
Sinonasal adenosquamous carcinoma (ASC) is a rare tumour classified as a variant of squamous cell carcinoma, exhibiting both squamous and glandular differentiation. ASC has a poorer prognosis compared to sinonasal mucoepidermoid carcinoma (MEC), another uncommon tumour in this region. ASC is believed to originate from metaplastic squamous epithelium, though it may also arise from respiratory epithelium in respiratory epithelial adenomatoid hamartoma (REAH) or seromucinous glands in seromucinous hamartoma (SH).
Dedicated diagnostic approaches for mature B-cell non-Hodgkin lymphomas occurring in children, adolescents, and young adults
Non-Hodgkin lymphoma (NHL) represents the fourth most common malignant disease among children and adolescents. Current disease classifications, including the most recent World Health Organization (WHO) classification and the International Consensus Classification (ICC), rely on a combination of clinical, epidemiological, histologic, immunophenotypic, and molecular data to define discrete clinicopathologic entities. There is growing evidence that children, adolescents, and young adults (CAYA) with B-cell NHL display unique clinical and epidemiologic characteristics. This may be explained by distinct age-related developmental plasticity, immune and haematopoietic repertoires, environmental exposures and social determinants of health, and germline or acquired genetic and molecular features, including those associated with inborn errors of immunity (IEI). Here, we discuss the unique clinical and biological characteristics of several distinct paediatric B-cell NHL types to indicate a path forward in classification of these CAYA NHL to optimally support multidisciplinary patient care and personalized treatment. We propose a potential "arising in CAYA" classification qualifier to denote the distinct clinicopathologic characteristics of B-cell NHLs that, otherwise, histologically and immunophenotypically resemble those arising in middle-aged and older adults. We also discuss how haemopathology diagnoses are evolving to incorporate the most current scientific knowledge into future classification systems of CAYA B-cell NHL.
Diagnostic features in paediatric MDS-EB with UBTF-internal tandem duplication: defining a unique subgroup
Tandem-duplications of the UBTF gene (UBTF-TDs) have recently been identified as a new genetic driver in young individuals with acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Disease in these newly defined subgroups is characterized by poor response to standard intensive chemotherapy and inferior survival of the affected patients. However, a thorough analysis of bone marrow histomorphology of UBTF-mutated neoplasia has not been undertaken thus far.
Evolution of morphological changes in donor livers undergoing normothermic machine perfusion
There is a shortage of livers for transplantation in the United Kingdom; despite this, more than a fifth of those retrieved are not transplanted. Normothermic machine perfusion (NMP) allows a functional assessment of marginal organs using biochemical parameters. This study describes the histological changes in livers undergoing NMP.
Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases
Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and sebaceous carcinoma. Although mismatch repair deficiency may be observed, the nature of the genetic alterations contributing to the development of most of these tumours is still unknown. In the present study, we describe the clinical, microscopic, and molecular features of eight sebaceomas with GRHL gene rearrangement.
Can patient ancestry influence molecular classifications in myeloid neoplasms?
Initiation of molecular testing of endometrial carcinomas in a population-based setting: practical considerations and pitfalls
Since the publication of The Cancer Genome Atlas (TCGA) molecular Classification of endometrial carcinomas in 2013, multiple studies have demonstrated the prognostic and therapeutic importance of this. However, there is great variability on whether and how this is undertaken in different institutions, and this is often dependent on resources and availability of molecular testing. Points of controversy include whether molecular classification is needed on all endometrial carcinomas and whether pure molecular testing is undertaken or a surrogate such as the ProMisE (Proactive Molecular Risk Classifier for Endometrial Cancer) Classifier. Herein we report our experience instigating molecular classification of endometrial carcinomas in Northern Ireland.
Mixed germ cell-sex cord stromal tumour of the testis, further evidence supporting similarity of the germ cell component to spermatocytic tumour: case report
Evolving molecular classification of aggressive B-cell lymphoma
This review aims to provide an overview of the latest developments in the classification and molecular understanding of aggressive B-cell lymphomas, specifically focusing on diffuse large B-cell lymphoma (DLBCL) and high-grade B-cell lymphoma (HGBL). Advances in molecular techniques have led to novel ways to classify these lymphomas based on clinical, histological, transcriptional, and genetic properties. While these methods have predominantly focused on the malignant compartment, recent studies emphasize the value of profiling the tumour microenvironment for a more comprehensive disease classification. Additionally, the integration of liquid biopsies represents a promising advancement, offering less invasive and dynamic insights into tumour characteristics and treatment response. Although molecular profiles are not yet routinely used to guide therapy, emerging data highlight their potential to predict responses to novel treatments. It is our belief that integrating molecular profiling and liquid biopsies into clinical practice and research now will pave the way for more personalized and effective therapies in the future.
Myxofibrosarcoma with epithelioid morphology: A clinicopathological study of 44 cases with emphasis on differential diagnosis
Epithelioid myxofibrosarcoma (eMFS) is an aggressive morphological variant associated with high rates of local recurrence and metastatic disease. The clinicopathological understanding of this disease is currently limited to a few small case-series.
Follicular lymphoma research: an open dialogue for a collaborative roadmap
Follicular lymphoma (FL) is the second most common type of lymphoma (20% of all non-Hodgkin lymphomas), derived from germinal centre (GC) B cells, and is characterised by its significant clinical, prognostic and biological heterogeneity, leading to complexity in management. Despite significant biological investigation and indisputable clinical progress since the advent of the immunotherapy era more than 20 years ago, much remains to be done to understand and cure this lymphoma. Today, FL is metaphorically a giant puzzle on the table with patches of sky, landscape and foliage clearly appearing. However, many of the remaining pieces are held by various stakeholders (e.g. clinicians, pathologists, researchers, drug developers) without global agreement on what the gaps are, or any clear blueprint on how to solve the puzzle of understanding the heterogeneity of this disease and create curative and tailored therapies. With the advent of new investigation and drug technologies, together with recent advances in our capacity to manage big data, the time seems ripe for a change of scale. More than ever, this will require collaboration between and within all stakeholders to overcome the current bottlenecks in the field. As for every investigator, we acknowledge that this first draft is necessarily biased, incomplete and some FL expert readers might recognise some remaining gaps not addressed. We hope they will reply to make this effort a collaborative one to assemble all the pieces in the most ideal fashion. As such, this review intends to be a first step and an interactive platform to a collaborative roadmap towards better understanding and care of FL.
Evaluation of breast-specific marker expression in metastatic breast cancers: Correlation with subtype switch
This study evaluates the utility of breast specific markers in identifying breast cancer subtypes within metastatic settings. The subtype alteration in metastatic disease and its consequent impact on breast-specific marker expression is also examined.
Clinicopathologic features and outcomes of hepatic inflammatory pseudotumour (IPT) and hepatic IPT-like lesions
Hepatic inflammatory pseudotumours (IPTs) are nonneoplastic hepatic masses characterized by variably fibroblastic stroma and inflammatory infiltrate, hypothesized to arise as part of a response to infection or prior surgery. The aim of this study was to evaluate the clinicopathologic features and outcomes of biopsy-proven hepatic IPT as well as other cases with IPT-like histologic features.
Fat embolism: a systematic review to facilitate the development of standardised procedures in pathology
Fat embolism (FE) is a historically recognised but still actively researched topic in forensic pathology. Several aspects remain not fully elucidated, such as its aetiopathogenesis, its causal role in death determination, the impact of interfering factors (e.g. cardiopulmonary resuscitation or other medical procedures) and both qualitative and quantitative diagnostic methodologies in clinical and forensic contexts. These issues are further underscored by the potential involvement of FE in the causal determination of non-traumatic deaths, which often raises questions of professional liability. The present study aims to provide a comprehensive and up-to-date overview of the most recent scientific evidence relevant to forensic pathology. Our systematic research has included 58 articles from 1990 to the present on the topic of FE and fat embolism syndrome (FES). From these articles, we identified 45 case reports, from which the authors' descriptions were extracted to provide information on individual cases and the operational methods of forensic pathologists. Additionally, 21 experimental studies were identified, and their key findings have been summarised narratively. It has emerged that both traumatic and non-traumatic cases are frequently reported in the forensic context, with orthopaedic and cosmetic surgery being among the highest-risk specialities. Experimental studies have re-evaluated the role of a patent foramen ovale in the pathogenesis of FE, as well as the impact of cardiopulmonary resuscitation in causing FE severe enough to result in death. Additionally, there are new findings regarding diagnostic techniques, including radiological and immunohistological methods; however, they have not yet fully bridged the reliability gap compared to an accurate autopsy-histological evaluation. The major critical points that emerged include the lack of complete and detailed information on premortem clinical conditions, the underutilisation of grading systems and the methodological heterogeneity applied, resulting in considerable variability regarding the organs studied histologically and the diagnostic techniques used. Despite the limitations associated with the analysis of case reports and the heterogeneity of included experimental studies, we believe that this study can provide a comprehensive overview of the FE topic. It furnishes pathologists with an updated overview useful for clinical practice and guiding future research trends, as well as facilitating the development of standardised procedures.
Ki-67 evaluation using deep-learning model-assisted digital image analysis in breast cancer
To test the efficacy of artificial intelligence (AI)-assisted Ki-67 digital image analysis in invasive breast carcinoma (IBC) with quantitative assessment of AI model performance.