{"title":"Gelatinous transformation of bone marrow in anorexia nervosa presenting with chronic cytopenia: a histopathological diagnostic pitfall","authors":"Nadreen Mustafa, Mark Ong","doi":"10.1016/j.mpdhp.2026.07.008","DOIUrl":"10.1016/j.mpdhp.2026.07.008","url":null,"abstract":"<div><div>Anorexia nervosa may be associated with significant haematological abnormalities, including anaemia, leucopenia and pancytopenia. Histopathological findings within the bone marrow range from mild hypocellularity to extensive gelatinous transformation. We present a 47-year-old female with long-standing anorexia nervosa referred for investigation of persistent macrocytic anaemia and leucopenia despite nutritional and haematinic optimisation. Extensive laboratory investigations excluded nutritional deficiency, autoimmune disease, haemolysis, plasma cell dyscrasia, viral infection and paroxysmal nocturnal haemoglobinuria. Bone marrow aspirate was hypocellular and haemodiluted. Trephine biopsy demonstrated marked hypocellularity, stromal oedema, and myxoid change, consistent with gelatinous transformation. Vacuolated signet-ring-like cells showed weak staining for epithelial markers and S100 positivity, initially raising concern for metastatic malignancy. Correlation with morphology and immunophenotype supported atrophied adipocytes within serous atrophy of bone marrow secondary to anorexia nervosa. This case showcases the characteristic histomorphology of anorexia-associated marrow injury, which may be a potential diagnostic pitfall by mimicking marrow failure syndromes or metastatic carcinoma.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 689-692"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096639","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}
{"title":"Classification and a practical pattern-based approach to the diagnosis of adipocytic tumors","authors":"David Creytens","doi":"10.1016/j.mpdhp.2026.07.005","DOIUrl":"10.1016/j.mpdhp.2026.07.005","url":null,"abstract":"<div><div>Adipocytic tumors are among the most common mesenchymal neoplasms in general surgical pathology. These tumors encompass a broad histological spectrum with variable degrees of adipocytic differentiation and a wide range of clinical behaviour, varying from entirely benign lipomas to aggressive pleomorphic liposarcomas. The World Health Organization (WHO) classification of adipocytic tumors has evolved considerably in the last decades, largely due to important advances in understanding their pathogenetic basis. Although classic examples of lipomas and liposarcomas are straightforward diagnoses, primarily distinguished by their morphological characteristics, several lipomatous tumors are now known to show unique, recurrent molecular genetic aberrations, identification of which can be used in the diagnostic work-up of distinct (uncommon) lipomatous tumor variants and histologically ambiguous adipocytic tumors. This article will provide a practical pattern-based approach to the histological diagnosis of benign, intermediate and malignant adipocytic neoplasms. We will focus on the currently known morphological, immunohistochemical and molecular features of the different adipocytic tumor entities, discuss their differential diagnoses and update on recently described adipocytic tumor entities (lipoblastoma-like tumor, atypical spindle cell/pleomorphic lipomatous tumor, and myxoid pleomorphic liposarcoma).</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 638-653"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096633","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}
Zeina Barakat, Karim Kheir, Roel W ten Broek, Carine JM van der Vleuten, Hala Kfoury Kassouf, Uta Flucke
{"title":"Vascular anomalies: a comprehensive updated review","authors":"Zeina Barakat, Karim Kheir, Roel W ten Broek, Carine JM van der Vleuten, Hala Kfoury Kassouf, Uta Flucke","doi":"10.1016/j.mpdhp.2026.07.006","DOIUrl":"10.1016/j.mpdhp.2026.07.006","url":null,"abstract":"<div><div>Vascular anomalies can be divided into two broad groups: vascular malformations being congenital defects in vascular morphogenesis that tend to grow with age, and vascular tumors, neoplastic proliferations that tend to regress with age when benign. These two categories have long imposed immense confusion among both clinicians and pathologists due to their overlapping clinical presentation and histopathology. The erroneous use of the term hemangioma for etiopathologically different entities is a common phenomenon. This poses a major risk to patients’ safety, as vascular malformations and tumors have different therapeutic approaches. From the pathological point of view, previous studies have focused on the histomorphological, immunohistochemical, and lately the genetic characterization of these lesions. The International Society for the Study of Vascular Anomalies (ISSVA) proposed a multidisciplinary approach, including the most recent discovered genetics. In this comprehensive review we consider the current etiopathological classification of vascular anomalies in correlation with their clinical and radiological characteristics.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 654-670"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096634","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}
{"title":"Primary osteosarcoma of the jaw: clinicopathological characterization of a rare tumour","authors":"Sarah Ruane, Guy Betts","doi":"10.1016/j.mpdhp.2026.07.009","DOIUrl":"10.1016/j.mpdhp.2026.07.009","url":null,"abstract":"<div><div>Osteosarcomas are the most common primary bone malignancy, typically affecting the long bones. Rarely are they found within the jaw, but when they do so, they present with paraesthesia, swelling and tooth loss. Herein we present a case of primary osteosarcoma of the mandible in a 76-year-old man, similarly, presenting to clinicians with paraesthesia, jaw swelling and loss of his back molar tooth. Computed tomography (CT) showed a spiculated lesion arising from bone, with overlying soft tissue infiltration, confirmed by Histopathology as a high-grade osteoblastic osteosarcoma. The patient underwent a hemi-mandibulectomy and lymph node dissection, with reconstructive surgery. A focused literature view highlights the; presentation, investigation, and management of jaw osteosarcomas, and touches on how immunohistochemical and genetic factors are hoping to effectively aid in the treatment and prognostication of patients, ultimately aiming to provide a more personalised and precision-based care for this rare entity.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 693-696"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096536","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}
{"title":"Calcified chondroid mesenchymal neoplasm: a rose by any other name would still smell as sweet","authors":"Sarah Ruane, Michael Toss, David Hughes","doi":"10.1016/j.mpdhp.2026.07.010","DOIUrl":"10.1016/j.mpdhp.2026.07.010","url":null,"abstract":"<div><div>Calcified chondroid mesenchymal neoplasms (CCMNs) are a heterogeneous tumours of bone and soft tissue characterised by the presence of fibronectin 1 (FN1) gene rearrangements, plasmacytoid mononuclear cells, multinucleated cells and extracellular matrix production. Classically presenting as enlarging masses within the distal extremities or temporomandibular joint, CCMNs exhibit a benign radiological appearance. CCMNs are commonly characterised by fusions between the <em>FN1</em> gene and genes of the fibroblast growth factor receptor (FGFR) family, but more novel fusions such as <em>PDGFRA::USP8</em> and <em>COL1A2::MIR29B</em> have also been described. Herein we present a case of CCMN arising within the proximal phalanx, with a <em>FN1:FGFR2</em> fusion identified on RNA sequencing and review the clinicopathological, radiological and molecular findings associated with this newly described and often challenging entity.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 697-700"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096537","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}
{"title":"Recent topics in skeletal muscle tumours","authors":"Peipei Zhu, Jian Wang","doi":"10.1016/j.mpdhp.2026.07.002","DOIUrl":"10.1016/j.mpdhp.2026.07.002","url":null,"abstract":"<div><div>The pathological classification of skeletal muscle tumours has undergone substantial refinement in recent years, driven by rapid advances in molecular diagnostics and an improved understanding of tumour biology. While traditional classification relied predominantly on morphological and immunohistochemical features, contemporary diagnostic schemes integrate molecular genetic evidence to delineate more precise neoplastic entities. The evolving role of next-generation sequencing has facilitated the discovery of novel fusion transcripts, enabling the establishment of a more robust, biologically consistent nomenclature. These technological and conceptual advances not only improve diagnostic precision but also bear significant prognostic implications. This review summarizes the current state of skeletal muscle tumour classification as reflected in the forthcoming 6th edition of the World Health Organization (WHO) classification and recently published literature, with an emphasis on persistent diagnostic challenges and emerging research directions in this evolving field.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 595-613"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096539","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}
{"title":"New and emerging entities of soft tissue sarcomas with uncertain differentiation","authors":"Florian Puls","doi":"10.1016/j.mpdhp.2026.07.003","DOIUrl":"10.1016/j.mpdhp.2026.07.003","url":null,"abstract":"<div><div>In recent years, large scale genetic analyses have become more prevalent and more accessible in pathology departments. Their widespread application has revealed an ever increasing number of distinct genetic alterations in soft tissue tumours that had been hard to classify on morphological and immunohistochemical grounds. It has let to recognition of new entities, some of which are still in their emerging process. This review will attempt to give an overview of recently established entities within the group of tumours with uncertain differentiation such as primitive tumours with rearrangements of <em>CIC</em> and <em>PATZ1</em> and sarcomas with <em>BCOR</em> alterations, as well as emerging entities such as pseudoendocrine sarcoma, and mesenchymal tumours with <em>Gli1</em> alternations. Finally, <em>TRAF7</em>-mutated fibromyxoid spindle cell tumour will be illustrated as a possible new entity with only a small number of described cases to date.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 614-624"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096540","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}
{"title":"Updates on superficial mesenchymal neoplasms: emerging novel entities and an old foe revisited","authors":"Kyriakos Chatzopoulos, Konstantinos Linos","doi":"10.1016/j.mpdhp.2026.07.004","DOIUrl":"10.1016/j.mpdhp.2026.07.004","url":null,"abstract":"<div><div>Understanding the molecular underpinnings of oncogenesis has led to an expansion of the spectrum of superficial mesenchymal neoplasms. The present review aims to provide an overview of the clinicopathologic and molecular characteristics of emerging entities with disease-defining molecular alterations. These include benign and indolent tumors such as hemangioma with epithelioid features harboring <em>TPM3/4::ALK</em> fusions, <em>OGT</em>-rearranged mesenchymal neoplasm, acral fibrochondromyxoid tumor, superficial FET::ETS neurocristic tumor, as well as hybrid peripheral nerve sheath tumors (hPNSTs), a subset of which harbor recurrent <em>VGLL3</em> rearrangements or alternative rare and unique fusions. A concise review of the main characteristics of recently described biologically aggressive to overtly malignant tumors is also presented, including nodular necrotizing fibroblastic tumor, superficial <em>GLI1</em>-altered mesenchymal tumor, <em>CRTC1::TRIM11</em> cutaneous tumor, and <em>TFCP2</em>-rearranged rhabdomyosarcoma. The review concludes with an update on dermatofibrosarcoma protuberans (DFSP). A subset of DFSPs harbor <em>PDGFD</em> rearrangements, and approximately 5% of both <em>PDGFB</em>- and <em>PDGFD</em>-rearranged DFSPs show S100 expression, which may pose a diagnostic challenge for practicing pathologists. These findings have further elucidated the molecular background and associated morphologic characteristics of superficial mesenchymal tumors, leading to the recognition of novel entities and further subclassification of existing ones, with important implications for diagnosis and patient management.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 625-637"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096541","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}
{"title":"Classic and recently described fibroblastic tumors","authors":"Ludovic Merck, Gustavo Caballero, Aurélien Bourdon, Nathalène Truffaux, Francois Le Loarer","doi":"10.1016/j.mpdhp.2026.07.007","DOIUrl":"10.1016/j.mpdhp.2026.07.007","url":null,"abstract":"<div><div>In this review, we discuss classic and recently described fibroblastic tumors, emphasizing practical aspects of their diagnostic approach in routine practice. The fibroblastic lineage is a fuzzy term that refers to a bland cytomorphology of small cells with small elongated, monotonous nuclei and inconspicuous cytoplasm, arranged in short fascicles frequently associated with a collagenous stroma. These morphological features are hardly specific; for many of these entities, there is limited evidence to definitively assert a fibroblastic lineage. To illustrate the complexity of assigning a definitive fibroblastic lineage to a neoplasm, recent studies have speculated on the fibroblastic lineage of atypical fibroxanthomas based on their proteomic profiles and expression analysis. The list of fibroblastic tumors keeps evolving. We will mention the various clinical, morphological, phenotypic, and molecular aspects of fibroblastic tumors that occur exclusively in children—lipofibromatosis and calcifying aponeurotic fibroma—as well as fibroblastic tumors found at any age or sometimes exclusively in adults: superficial CD34-positive pleomorphic fibroblastic tumors and PRDM10-rearranged tumors; EWSR1::SMAD3-rearranged fibroblastic tumors; nodular necrotizing fibroblastic sarcoma associated with MAML2 fusions; sclerosing epithelioid fibrosarcoma; KMT2A-rearranged tumor; MUC4-positive fibroblastoma; PRRX1-rearranged fibroblastic tumors and acral fibrochondromyxoid tumors.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 10","pages":"Pages 671-688"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096638","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}
Luis Felipe Arias-Ruiz, Rita Dorantes-Heredia, Paul Hofman, Homa Adle-Biassette, Arnault Tauziède-Espariat, Alexis Trecourt
{"title":"Diagnosis of infectious granulomas: an integrated histomolecular approach","authors":"Luis Felipe Arias-Ruiz, Rita Dorantes-Heredia, Paul Hofman, Homa Adle-Biassette, Arnault Tauziède-Espariat, Alexis Trecourt","doi":"10.1016/j.mpdhp.2026.06.014","DOIUrl":"10.1016/j.mpdhp.2026.06.014","url":null,"abstract":"<div><div>Granulomatous inflammation is frequently encountered by surgical pathologists in daily practice. Multiple morphological patterns have been described, caused by various etiologies, including infectious diseases, which represent three quarters of the causes. The distinction between infectious diseases and other etiologies, such as autoimmune diseases/auto-inflammatory disorders, is crucial since treatments are completely different. Although microbiological culture is traditionally considered as the gold standard for main pathogen identification, its sensitivity may be limited, there may be a risk of contamination, and turnaround time is sometime prolonged. Moreover, infections causing granulomatous inflammation often have a misleading pseudotumor clinical presentation, implying absence of fresh tissue sent to the microbiology laboratory for pathogen identification. In this context, the formalin-fixed, paraffin-embedded (FFPE) sample is the only sample available for disease characterization, and surgical pathologists are in the first line to render a final diagnosis. Recent advances in molecular biology applied to FFPE tissues have significantly improved pathogen identification. The present article will discuss two different histopathological situations: when pathogens are visualized within the granulomas and when pathogens are not visualized within the granuloma but with a clinical suspicion of infection. For each situation, a diagnostic approach based on morphological assessment, special stains, immunohistochemistry, and/or molecular techniques will be proposed.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"32 9","pages":"Pages 556-572"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148949402","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}