PathologyPub Date : 2026-09-22DOI: 10.1016/j.pathol.2026.08.012
Emily L Mitchell, Sarah M Smith, Lindsay F Fowles, Meg Jeppesen, Ben Lundie, Chiyan Lau, Amanda B Spurdle, Rehan M Villani
{"title":"Surveying the evolving landscape of genetic and genomic testing in the state of Queensland.","authors":"Emily L Mitchell, Sarah M Smith, Lindsay F Fowles, Meg Jeppesen, Ben Lundie, Chiyan Lau, Amanda B Spurdle, Rehan M Villani","doi":"10.1016/j.pathol.2026.08.012","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.012","url":null,"abstract":"<p><p>The value of genetic and genomic testing to clinical care is increasingly being recognised in the Australian clinical setting, with significant investment in initiatives to improve genomics implementation. The aim of this study was to survey current genetic test requests, nationally and in Queensland, to identify considerations for future practice and inform strategy for ensuring impact from this new technology. Data on genetic testing from the Medicare Benefits Scheme (MBS) and Queensland state-wide pathology service from 2017 to 2023 were analysed for genetic and genomic test use, funding profile, referring specialties and test categories/types. MBS service and billing data showed that genetic test use is increasing nationally, with the number of items available increasing at a higher rate than the number of items billed (item numbers being used). Queensland test request data showed an increasingly broad range of specialties have referred an increasingly diverse number of genetic and genomic testing types. Both the MBS and Queensland state-wide pathology service data indicate increasing costs per test, suggesting the growing complexity of testing is leading to an altered clinical genetic testing landscape. The results point to an increasingly complex genetic testing profile in healthcare along with a widening gap in application. Further research into genomics implementation is required to fully realise the benefits of genetics and genomics testing.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-22DOI: 10.1016/j.pathol.2026.08.013
Jennifer M Roberts, Benjamin H Armstrong, Sophie Corbett-Burns, Richard C Turner, Clare E F Dyer, Fengyi Jin, Richard J Hillman, Andrew E Grulich, I Mary Poynten
{"title":"Preventing cancer Down Under: Australian screening guidelines for prevention of anal cancer in people living with HIV: the pathologists' viewpoint.","authors":"Jennifer M Roberts, Benjamin H Armstrong, Sophie Corbett-Burns, Richard C Turner, Clare E F Dyer, Fengyi Jin, Richard J Hillman, Andrew E Grulich, I Mary Poynten","doi":"10.1016/j.pathol.2026.08.013","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.013","url":null,"abstract":"<p><p>Anal squamous cell carcinoma (ASCC) is a human papillomavirus (HPV)-associated cancer with a rising incidence. People living with human immunodeficiency virus (PLHIV) are at the highest risk. Recent evidence has shown that treatment of the precursor lesion, high-grade squamous intraepithelial lesion (HSIL), can prevent cancer development. Consequently, several countries have published screening guidelines for anal HSIL as a strategy to decrease cancer incidence. In Australia, the Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine (ASHM) has recently released guidelines for PLHIV, based on HPV testing and genotyping, with liquid-based cytology (LBC) used as a triage tool for those testing positive to high-risk HPV. The pathologist's role will be critical to the success of this endeavour. This article describes the scientific basis for the recommended screening algorithm. The key features of each testing component are outlined, including anal swab collection, biopsy interpretation and the importance of relevant clinical information, to enhance communication between pathologist and clinician. Future developments are discussed, including the possibility of extension of the benefits of such screening to other at-risk groups.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-21DOI: 10.1016/j.pathol.2026.08.014
Pranav Dorwal, Alison Cheah, Alireza Khani, Laurence A Galea, Laveniya Satgunaseelan, David Kim, Ali Moghimi, Zenggang Pan, Arivarasan Karunamurthy, King Tan, Fiona Maclean, Beena Kumar
{"title":"Role of genomic testing in modern diagnostic surgical pathology practice.","authors":"Pranav Dorwal, Alison Cheah, Alireza Khani, Laurence A Galea, Laveniya Satgunaseelan, David Kim, Ali Moghimi, Zenggang Pan, Arivarasan Karunamurthy, King Tan, Fiona Maclean, Beena Kumar","doi":"10.1016/j.pathol.2026.08.014","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.014","url":null,"abstract":"<p><p>Genomic testing has become an essential adjunct to conventional histomorphology and immunohistochemistry in modern diagnostic surgical pathology, enabling more precise tumour classification, particularly in diagnostically challenging cases. This review focuses on the diagnostic applications of genomic techniques across multiple subspecialties, including bone and soft tissue pathology, dermatopathology, neuropathology, paediatric pathology, uropathology, and lymphoma pathology. A range of methodologies, such as fluorescence in situ hybridisation, polymerase chain reaction-based assays, and next-generation sequencing approaches (targeting DNA and RNA), are employed depending on the clinical question and the type of genomic alteration being investigated. In bone and soft tissue pathology, recurrent gene fusions, amplifications, and mutations serve as key diagnostic markers, especially in morphologically ambiguous lesions. In dermatopathology, genomic profiling plays a critical role in classifying melanocytic neoplasms, distinguishing histological mimics, and providing prognostic information. Neuropathology has pioneered integrated molecular-histological classification systems, with genomic alterations now central to the definition and grading of many central nervous system tumours. In paediatric pathology, tumours are frequently driven by structural chromosomal rearrangements and gene fusions, making RNA-based sequencing particularly valuable for diagnosis and therapeutic stratification. Similarly, molecular testing has refined the classification of renal tumours and improved the diagnostic accuracy of rare entities in uropathology. In lymphoma pathology, genomic alterations aid in distinguishing overlapping entities, confirming diagnoses, and identifying clinically significant subgroups. Emerging applications such as mutational signature analysis further enhance diagnostic precision by linking tumours to specific aetiological exposures or biological processes, which may assist in determining tumour origin in challenging cases. Despite its expanding role, genomic testing must be used judiciously and interpreted in the context of morphology, as many genetic alterations are not entirely disease-specific and assay limitations exist. Overall, the integration of genomic data with traditional pathology remains critical for accurate diagnosis, prognostication, and the advancement of precision medicine.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-21DOI: 10.1016/j.pathol.2026.08.011
M Claudia Morante, Tania P Guncay, Paloma Martín-Acosta, Laura Castillo, Yolanda Vicente-Lago, Carolina Sánchez-Estévez, Juan C Tardío
{"title":"Anisometric cell lipoma/dysplastic lipoma: a distinctive type of subcutaneous adipocytic tumour of the RB1-gene-deleted neoplasm family. A clinicopathological study of 62 cases.","authors":"M Claudia Morante, Tania P Guncay, Paloma Martín-Acosta, Laura Castillo, Yolanda Vicente-Lago, Carolina Sánchez-Estévez, Juan C Tardío","doi":"10.1016/j.pathol.2026.08.011","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.011","url":null,"abstract":"<p><p>Anisometric cell lipoma (ACL), also called dysplastic lipoma (DL), was first described in 2015. Since then, less than 100 cases have been reported. Its recognition is important because of its shared histopathological features with atypical lipomatous tumour, a locally aggressive neoplasm. Whether this is a distinctive type of fatty tumour or a morphological variant of a known entity, such as the spindle cell/pleomorphic lipoma (SCPL) or atypical spindle cell/pleomorphic lipomatous tumour, remains controversial. We analysed the clinicopathological, immunohistochemical and molecular features of 72 ACL/DL of 62 patients (age 32-78 years; median 53). Fifty patients were male and 12 female (M/F 4.2:1). All lesions arose in the subcutaneous tissue, most frequently on the neck, back or shoulder (83%). Histopathologically, the tumours consisted of adipocytes with prominent variation in size and contained frequent single fat-cell necrosis surrounded by reactive histiocytes, fat cells with lochkern change, sparse lipoblasts and a small number of fat cells with atypical, hyperchromatic nuclei and immunoexpression of MDM2 (47/58 cases) and p53 (12/12). Fatty cells showed negativity for CDK4 (0/12) and loss of RB1 immunostaining (complete 39/51; partial 8/51). Fluorescence in situ hybridisation analysis demonstrated lack of MDM2 gene amplification (0/26) and loss of RB1 locus (8/9 evaluable tumours). Local recurrences occurred in five cases (8%), with the absence of distant metastases. In conclusion, ACL/DL appears as a distinctive type of subcutaneous benign adipocytic tumour of the RB1-gene-deleted neoplasm family, closely related to SCPL.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-17DOI: 10.1016/j.pathol.2026.08.008
Samuel Pok Wei Tsang, Nikita Hasmukhlal Bhula, Timothy Fielder, James G Kench, Joo-Shik Shin, Catriona McKenzie
{"title":"Are we being prudent or profligate? Overblocking in colorectal adenocarcinoma resections.","authors":"Samuel Pok Wei Tsang, Nikita Hasmukhlal Bhula, Timothy Fielder, James G Kench, Joo-Shik Shin, Catriona McKenzie","doi":"10.1016/j.pathol.2026.08.008","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.008","url":null,"abstract":"<p><p>There are two main margins in histopathological assessment of colorectal resections for primary adenocarcinoma: non-peritonealised and longitudinal margins (proximal and distal). The Royal College of Pathologists of Australasia (RCPA) recommends microscopic examination of longitudinal margins only if tumour extends within 30 mm macroscopically, unless aggressive features are present. We evaluated the utility of microscopic longitudinal margin assessment by auditing colorectal resections presented at the Royal Prince Alfred Hospital (RPAH) multidisciplinary meetings (between July 2023 and June 2025) and surveying Australasian Gastrointestinal Pathology Society (AGPS) members on sampling practices. A total of 308 specimens were identified, of which all underwent routine longitudinal margin sampling. Findings were present in 2.27% (n=7) of margin sections, including five neoplastic and two non-neoplastic abnormalities. Neoplastic findings included adenocarcinoma (n=2), sessile serrated lesion (n=1), low-grade dysplasia (n=1), and Paget disease (n=1). Both adenocarcinomas were macroscopically identified and margin status was not altered by microscopy. Regarding the survey, there were 82 participants; 89% reported routine universal longitudinal margin sampling and 91% donut sampling. Most participants believed routine microscopic examination of margins rarely yields diagnostic information (91% for longitudinal margins; 68% for donuts). A targeted approach to selective sampling could reduce costs, workload, and environmental impact without compromising patient care.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-17DOI: 10.1016/j.pathol.2026.08.009
Jun Yen Ng, Patricia Hannaford, Roger Sachs, Felicity V Connon, Maya Latimer, Adrienne Morey
{"title":"Cutaneous squamous cell carcinoma with synchronous peritumoural mantle cell leukaemic infiltrates: a case report and literature review.","authors":"Jun Yen Ng, Patricia Hannaford, Roger Sachs, Felicity V Connon, Maya Latimer, Adrienne Morey","doi":"10.1016/j.pathol.2026.08.009","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2026-09-11DOI: 10.1016/j.pathol.2026.08.006
Peivern Fong, Namraj Goire, Maryza Graham, Kyra Y L Chua, Tony M Korman
{"title":"The conundrum of ocular corynebacteria: are Corynebacterium macginleyi and Corynebacterium bovis commensals?","authors":"Peivern Fong, Namraj Goire, Maryza Graham, Kyra Y L Chua, Tony M Korman","doi":"10.1016/j.pathol.2026.08.006","DOIUrl":"https://doi.org/10.1016/j.pathol.2026.08.006","url":null,"abstract":"<p><p>This study sought to establish the prevalence of Corynebacterium macginleyi and Corynebacterium bovis ocular colonisation in healthy adult individuals. Eye swabs and contact lenses were collected from adults with no symptoms or signs of active eye infection or inflammation. Specimens were cultured on both solid and liquid media. Isolates were identified by matrix-assisted laser desorption ionisation-time of flight mass spectrometry. Susceptibility testing was performed according to European Committee on Antimicrobial Susceptibility Testing methods. A total of 106 participants were included in the study who provided 212 eye swabs. Two sets of contact lenses were received. Coagulase-negative staphylococci and Corynebacterium species were the most frequently isolated organisms in our healthy participants. C. bovis was isolated in eight of 106 (7.5%) healthy individuals with no symptoms of eye disease. C. macginleyi colonisation rates were similar: five of 106 (4.7%). All C. macginleyi isolates tested susceptible to linezolid, tetracycline and vancomycin, with variable susceptibilities to clindamycin. All C. bovis isolates were susceptible to linezolid, tetracycline and vancomycin. All C. macginleyi and C. bovis isolates tested susceptible increased exposure to ciprofloxacin and penicillin. This study demonstrates C. macginleyi and C. bovis colonisation in the absence of eye infections in healthy individuals. This study highlights the complexity of the organisms and ocular health, underscoring the need for clinical correlation when isolated in low abundance in clinical specimens.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149166312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}