Pub Date : 2025-04-01Epub Date: 2025-02-28DOI: 10.1016/j.mpdhp.2025.02.008
Monika Kondratowicz, Lucy Hamer, Sherin Jos Payyappilly
Adenoid cystic carcinoma (ACC) is a rare and aggressive biphasic malignant tumour with both ductal and myoepithelial components. Though mostly considered a tumour of the salivary gland (accounting for 10% of all salivary tumours) its exocrine origin means that it is rarely also described at other sites with exocrine glandular components such as the respiratory tract, breast, skin, and lacrimal glands. Thymic carcinoma with adenoid cystic carcinoma-like features (TCACC) is an extremely rare thymic adenocarcinoma variant that has been described nine times in the literature to date. Until now, primary ACC in the thymus is yet to be described. We present two recent cases for comparison - the first is a classic example of a primary ACC of the lung; the second is a proposed case of primary ACC of the thymus - and consider the morphological, immunohistochemical, and genetic similarities, differences, as well as difficulties in diagnosis.
{"title":"Two rare primary tumours of the thymus with differential immunohistochemical characterisation and a potential new entity","authors":"Monika Kondratowicz, Lucy Hamer, Sherin Jos Payyappilly","doi":"10.1016/j.mpdhp.2025.02.008","DOIUrl":"10.1016/j.mpdhp.2025.02.008","url":null,"abstract":"<div><div>Adenoid cystic carcinoma (ACC) is a rare and aggressive biphasic malignant tumour with both ductal and myoepithelial components. Though mostly considered a tumour of the salivary gland (accounting for 10% of all salivary tumours) its exocrine origin means that it is rarely also described at other sites with exocrine glandular components such as the respiratory tract, breast, skin, and lacrimal glands. Thymic carcinoma with adenoid cystic carcinoma-like features (TCACC) is an extremely rare thymic adenocarcinoma variant that has been described nine times in the literature to date. Until now, primary ACC in the thymus is yet to be described. We present two recent cases for comparison - the first is a classic example of a primary ACC of the lung; the second is a proposed case of primary ACC of the thymus - and consider the morphological, immunohistochemical, and genetic similarities, differences, as well as difficulties in diagnosis.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 253-256"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-26DOI: 10.1016/j.mpdhp.2025.02.006
Adam V. Jones, Miranda Pring, Brendan Conn
This article provides an overview of common oral and maxillofacial specimens submitted to pathology laboratories and highlights important macroscopic features that are crucial to diagnosis. The head and neck is complex and recognition of normal anatomical structures is essential for optimal dissection of specimens. Specimen orientation and sampling are critical for assessment and the importance of clinical and radiological correlation is emphasised.
{"title":"Macroscopy of oral and maxillofacial specimens","authors":"Adam V. Jones, Miranda Pring, Brendan Conn","doi":"10.1016/j.mpdhp.2025.02.006","DOIUrl":"10.1016/j.mpdhp.2025.02.006","url":null,"abstract":"<div><div>This article provides an overview of common oral and maxillofacial specimens submitted to pathology laboratories and highlights important macroscopic features that are crucial to diagnosis. The head and neck is complex and recognition of normal anatomical structures is essential for optimal dissection of specimens. Specimen orientation and sampling are critical for assessment and the importance of clinical and radiological correlation is emphasised.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 242-248"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-19DOI: 10.1016/j.mpdhp.2025.02.002
Marguerite Carter, Adrienne M Flanagan
The classification of mesenchymal neoplasms is rapidly expanding, with a marked increase in entities defined not only by traditional morphological parameters, but according to the underlying molecular genetic alterations driving tumorigenesis. We aim to provide an overview of a selection of recently described and emerging entities relevant to the head and neck pathologist, with an emphasis on the morphological and immunohistochemical findings that can prompt consideration of referral for molecular testing. In this review we provide an overview of: 1) TIMP3::ALK rearranged tumour, 2) spindle cell/sclerosing rhabdomyosarcoma with emphasis on tumours harbouring rearrangements of TFCP2, 3) EWSR1::POU2AF3 sarcoma, 4) sarcomas with EWSR1::PATZ1 fusions and 5) GLI1-altered soft tissue tumour.
{"title":"Spindle cell mesenchymal tumours of the head and neck: emerging and recently described entities characterised by molecular findings","authors":"Marguerite Carter, Adrienne M Flanagan","doi":"10.1016/j.mpdhp.2025.02.002","DOIUrl":"10.1016/j.mpdhp.2025.02.002","url":null,"abstract":"<div><div>The classification of mesenchymal neoplasms is rapidly expanding, with a marked increase in entities defined not only by traditional morphological parameters, but according to the underlying molecular genetic alterations driving tumorigenesis. We aim to provide an overview of a selection of recently described and emerging entities relevant to the head and neck pathologist, with an emphasis on the morphological and immunohistochemical findings that can prompt consideration of referral for molecular testing. In this review we provide an overview of: 1) <em>TIMP3::ALK</em> rearranged tumour, 2) spindle cell/sclerosing rhabdomyosarcoma with emphasis on tumours harbouring rearrangements of <em>TFCP2</em>, 3) <em>EWSR1::POU2AF3</em> sarcoma, 4) sarcomas with <em>EWSR1::PATZ1</em> fusions and 5) <em>GLI1</em>-altered soft tissue tumour.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 204-209"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-25DOI: 10.1016/j.mpdhp.2025.02.005
Amrita Jay, Oluyori Adegun, Kirsty Young
Manifestations of microbial infection in the head and neck mucosa present significant challenges in diagnosis, often due to their non-specific clinical, imaging and histological appearances. Their presentation as ulcerated or necrotic lesions, combined with lymphadenopathy mimic malignant processes, resulting in further challenges in diagnosis. Additionally, the need for a microbial infection diagnosis is overshadowed by the urgency to confirm or exclude a cancer diagnosis, resulting in ancillary investigations catering mostly to the latter. The necessity for accurate and timely diagnosis of microbial infections is emphasized, especially for acute necrotizing infections due to anatomical proximity to vital structures of the cranial cavity and neck. To enable this, a reasonable level of experience and knowledge of the clinical and histological appearances of a range of microbial infections presenting in the head and neck region is essential. Histological skills, together with emphasis on detailed clinical and imaging features, and history should enable accurate diagnosis and targeted management. The salient features of a selection of viral, fungal, bacterial and protozoan infections presenting in the head and neck mucosal sites, their differential diagnoses and investigative tools are discussed.
{"title":"Head and neck mucosal manifestations of microbial infection: clinical presentation, histological features and diagnostic aids","authors":"Amrita Jay, Oluyori Adegun, Kirsty Young","doi":"10.1016/j.mpdhp.2025.02.005","DOIUrl":"10.1016/j.mpdhp.2025.02.005","url":null,"abstract":"<div><div>Manifestations of microbial infection in the head and neck mucosa present significant challenges in diagnosis, often due to their non-specific clinical, imaging and histological appearances. Their presentation as ulcerated or necrotic lesions, combined with lymphadenopathy mimic malignant processes, resulting in further challenges in diagnosis. Additionally, the need for a microbial infection diagnosis is overshadowed by the urgency to confirm or exclude a cancer diagnosis, resulting in ancillary investigations catering mostly to the latter. The necessity for accurate and timely diagnosis of microbial infections is emphasized, especially for acute necrotizing infections due to anatomical proximity to vital structures of the cranial cavity and neck. To enable this, a reasonable level of experience and knowledge of the clinical and histological appearances of a range of microbial infections presenting in the head and neck region is essential. Histological skills, together with emphasis on detailed clinical and imaging features, and history should enable accurate diagnosis and targeted management. The salient features of a selection of viral, fungal, bacterial and protozoan infections presenting in the head and neck mucosal sites, their differential diagnoses and investigative tools are discussed.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 228-241"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-28DOI: 10.1016/j.mpdhp.2025.02.003
Umar A Hussain, Rajesh Rajendran, Guy Betts
Sinonasal biopsies are common specimens in surgical pathology but samples are often limited showing non-specific and often overlapping features between differential diagnoses. This review will summarize the relevant diagnostic and clinical features of common and important sinonasal inflammatory pathologies with emphasis on recent developments and areas of diagnostic difficulty.
{"title":"Inflammatory disorders of the sinonasal tract: a practical approach and recent updates","authors":"Umar A Hussain, Rajesh Rajendran, Guy Betts","doi":"10.1016/j.mpdhp.2025.02.003","DOIUrl":"10.1016/j.mpdhp.2025.02.003","url":null,"abstract":"<div><div>Sinonasal biopsies are common specimens in surgical pathology but samples are often limited showing non-specific and often overlapping features between differential diagnoses. This review will summarize the relevant diagnostic and clinical features of common and important sinonasal inflammatory pathologies with emphasis on recent developments and areas of diagnostic difficulty.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 210-220"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-03-13DOI: 10.1016/j.mpdhp.2025.02.004
Ella-Grace Kirton, Karwan Moutasim
Poorly differentiated carcinomas can be a challenging area for histopathologists and frequently require ancillary tests to arrive at a definitive diagnosis. Neuroendocrine markers have the potential to be helpful in establishing a diagnosis but can also cause diagnostic dilemmas when aberrantly expressed. Here, we present three case examples to illustrate this issue and highlight relevant learning points in each case.
{"title":"Head and neck tumours with neuroendocrine marker ‘expression’: pitfalls and learning points","authors":"Ella-Grace Kirton, Karwan Moutasim","doi":"10.1016/j.mpdhp.2025.02.004","DOIUrl":"10.1016/j.mpdhp.2025.02.004","url":null,"abstract":"<div><div>Poorly differentiated carcinomas can be a challenging area for histopathologists and frequently require ancillary tests to arrive at a definitive diagnosis. Neuroendocrine markers have the potential to be helpful in establishing a diagnosis but can also cause diagnostic dilemmas when aberrantly expressed. Here, we present three case examples to illustrate this issue and highlight relevant learning points in each case.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 221-227"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-19DOI: 10.1016/j.mpdhp.2025.02.001
Hannah Crane, Mollie Clark, Syed Ali Khurram
Salivary gland pathology can be a notoriously complex area of diagnostic histopathology, with a number of benign and malignant neoplasms which can show overlapping histological features. Following the publication of the 5th edition of the World Health Organization (WHO) classification of Head and Neck Tumours, the Royal College of Pathologists (RCPath) has recently published an updated dataset encompassing the reporting of salivary gland carcinomas. In the following article, we outline the important concepts within the new dataset; including new and emerging entities, histological tumour grading, extent of tumour invasion, pathological staging and the use of ancillary methods for diagnosis.
{"title":"Update on the dataset for histopathological reporting of salivary gland carcinomas: current concepts and controversies in salivary gland pathology","authors":"Hannah Crane, Mollie Clark, Syed Ali Khurram","doi":"10.1016/j.mpdhp.2025.02.001","DOIUrl":"10.1016/j.mpdhp.2025.02.001","url":null,"abstract":"<div><div>Salivary gland pathology can be a notoriously complex area of diagnostic histopathology, with a number of benign and malignant neoplasms which can show overlapping histological features. Following the publication of the 5th edition of the World Health Organization (WHO) classification of Head and Neck Tumours, the Royal College of Pathologists (RCPath) has recently published an updated dataset encompassing the reporting of salivary gland carcinomas. In the following article, we outline the important concepts within the new dataset; including new and emerging entities, histological tumour grading, extent of tumour invasion, pathological staging and the use of ancillary methods for diagnosis.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 195-203"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-01Epub Date: 2025-02-26DOI: 10.1016/j.mpdhp.2025.02.007
Lucy Ryan, Xin-Ying Kowa, Jonathan Joseph, Amrita Jay, Oluyori K Adegun
We report a case of an 88-year-old male with a large nasal lesion thought to be an inverted papilloma clinically and on imaging, but subsequently diagnosed histologically as a carcinoma, specifically, a non-keratinizing squamous cell carcinoma with the distinct DEK - AFF2 fusion. This variant of carcinoma in the head and neck is an emerging entity thought to have a distinct morphology, that should prompt molecular studies. Overlapping histological features with benign papillomatous lesions emphasizes the need for identification of this entity, as they have been associated with an aggressive clinical course including relapse and distant metastases. In addition, identification of the specific fusion may potentially add to the therapeutic armamentarium.
{"title":"DEK::AFF2 fusion positive carcinoma, a potentially misdiagnosed entity: overview of histology and diagnostic clues","authors":"Lucy Ryan, Xin-Ying Kowa, Jonathan Joseph, Amrita Jay, Oluyori K Adegun","doi":"10.1016/j.mpdhp.2025.02.007","DOIUrl":"10.1016/j.mpdhp.2025.02.007","url":null,"abstract":"<div><div>We report a case of an 88-year-old male with a large nasal lesion thought to be an inverted papilloma clinically and on imaging, but subsequently diagnosed histologically as a carcinoma, specifically, a non-keratinizing squamous cell carcinoma with the distinct DEK - AFF2 fusion. This variant of carcinoma in the head and neck is an emerging entity thought to have a distinct morphology, that should prompt molecular studies. Overlapping histological features with benign papillomatous lesions emphasizes the need for identification of this entity, as they have been associated with an aggressive clinical course including relapse and distant metastases. In addition, identification of the specific fusion may potentially add to the therapeutic armamentarium.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 4","pages":"Pages 249-252"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2025-01-17DOI: 10.1016/j.mpdhp.2024.12.006
Rebecca N Young, Raluca Grigorescu, Sampada Gupta
Mammary mucinous cystadenocarcinoma is a rare primary breast malignancy. First described in 1998 by Koenig and Tavassoli, it was named in the third edition of the WHO International Classification of Tumours (2003) but was only recognized as a distinct entity in the most recent fifth edition (2019). Lack of data impedes our understanding of tumourigenesis and long-term prognosis. No standardized treatment protocol is available. Here we present a case in which this unusual diagnosis was suggested on core biopsy and confirmed on surgical resection. The purpose of this case report is to add to the data on its long-term behaviour, and illustrate an approach to its diagnosis.
{"title":"Mucinous cystadenocarcinoma of the breast: a case report of a rare entity and how to recognize it","authors":"Rebecca N Young, Raluca Grigorescu, Sampada Gupta","doi":"10.1016/j.mpdhp.2024.12.006","DOIUrl":"10.1016/j.mpdhp.2024.12.006","url":null,"abstract":"<div><div>Mammary mucinous cystadenocarcinoma is a rare primary breast malignancy. First described in 1998 by Koenig and Tavassoli, it was named in the third edition of the WHO International Classification of Tumours (2003) but was only recognized as a distinct entity in the most recent fifth edition (2019). Lack of data impedes our understanding of tumourigenesis and long-term prognosis. No standardized treatment protocol is available. Here we present a case in which this unusual diagnosis was suggested on core biopsy and confirmed on surgical resection. The purpose of this case report is to add to the data on its long-term behaviour, and illustrate an approach to its diagnosis.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 3","pages":"Pages 191-194"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2025-01-07DOI: 10.1016/j.mpdhp.2024.12.004
Jessica K Maguire, Aoife Maguire, Elena Provenzano, Cecily Quinn
Breast calcifications are frequently detected in women undergoing screening mammography and image-guided biopsy may be required to further investigate its aetiology. Calcifications are associated with a diverse range of pathological findings, including benign and malignant entities and lesions of uncertain biological potential. The aim of this paper is to outline an approach to the histopathological evaluation of breast biopsies, vacuum assisted excision and surgical specimens performed for the investigation of calcifications. We emphasise the importance of radiological-pathological correlation and the crucial role of multidisciplinary team meeting review and discussion in guiding further management.
{"title":"Calcification in breast histopathology","authors":"Jessica K Maguire, Aoife Maguire, Elena Provenzano, Cecily Quinn","doi":"10.1016/j.mpdhp.2024.12.004","DOIUrl":"10.1016/j.mpdhp.2024.12.004","url":null,"abstract":"<div><div>Breast calcifications are frequently detected in women undergoing screening mammography and image-guided biopsy may be required to further investigate its aetiology. Calcifications are associated with a diverse range of pathological findings, including benign and malignant entities and lesions of uncertain biological potential. The aim of this paper is to outline an approach to the histopathological evaluation of breast biopsies, vacuum assisted excision and surgical specimens performed for the investigation of calcifications. We emphasise the importance of radiological-pathological correlation and the crucial role of multidisciplinary team meeting review and discussion in guiding further management.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 3","pages":"Pages 174-181"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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