Advances In Anatomic Pathology最新文献

{"title":"Role of Surrogate Immunohistochemistry Markers in CNS Tumors in the Era of Molecular Diagnostics With Recent Updates.","authors":"Sumanta Das, Vaishali Suri, Sunita Ahlawat, Mehar C Sharma","doi":"10.1097/PAP.0000000000000533","DOIUrl":"10.1097/PAP.0000000000000533","url":null,"abstract":"<p><p>Molecular profiling is becoming crucial for accurate classification, prognostication, and therapeutic stratification for central nervous system (CNS) tumor classification since the advent of the WHO 2021 CNS tumor classification. However, in most of the low-income countries and middle-income countries, access to advanced molecular platforms remains limited due to cost, technical complexity, and turnaround time. Surrogate immunohistochemistry markers for mutation-specific or fusion-specific antibodies that reliably predict underlying genetic alterations offer a rapid, cost-effective alternative. The manuscript systematically discusses a spectrum of CNS tumor entities where morphology supplemented with immunohistochemistry can, in many cases, support an integrated molecular diagnosis, including \"Astrocytoma, IDH-mutant\" (IDH R132H, ATRX, and p53), \"Oligodendroglioma, IDH-mutant, and 1p/19q codeleted\" (HIP1R, H3K27me3 loss, and vimentin), \"Diffuse midline glioma, H3K27-altered\" (H3K27M, EZHIP), \"Diffuse hemispheric glioma, H3G34-mutant\" (H3G34R/V), \"Infant-type hemispheric glioma\" (Pan-TRK, ALK), \"Epithelioid glioblastoma\" and \"Pleomorphic xanthoastrocytoma\" (BRAF V600E)), \"Astroblastoma, MN1-altered\" (MN1), \"Ependymoma\" subtypes (p65, L1CAM, EZHIP), \"Medulloblastoma\" subgroups (β-catenin, LEF1, YAP1, GAB1), \"Atypical teratoid/rhabdoid tumor\" (SMARCB1, SMARCA4), \"CNS neuroblastoma, FOXR2-activated\" (FOXR2), \"CNS tumor with BCOR ITD\" (BCOR), and various sarcomas and sellar tumors (STAT6, NKX2.2, DUX4, β-catenin, BRAF V600E). For each entity, detailed morphologic features, immunoprofiles, sensitivity/specificity data, and diagnostic caveats have been described. The review emphasizes that when interpreted alongside histomorphology and conventional markers, surrogate immunohistochemistry can significantly reduce reliance on molecular testing, expedite diagnosis, and improve accessibility of precision diagnostics. Standardization, validation, and awareness of pitfalls remain essential to maximizing their clinical utility in neuropathology practice.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"342-370"},"PeriodicalIF":2.8,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147637534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postchemotherapy Germ Cell Tumor Phenotypes.","authors":"Alexander Fichtner, Pailin Pongratanakul, Daniel Nettersheim, Felix Bremmer","doi":"10.1097/PAP.0000000000000549","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000549","url":null,"abstract":"<p><p>Germ cell tumors of the testis are the most common malignant tumor in young adults. The introduction of the use of cisplatin-based chemotherapy for testicular germ cell tumors from certain tumor stages in the 1970s has significantly improved the prognosis for these tumors. The resection of tumors that have undergone prior chemotherapy, usually in the area of retroperitoneal lymph node metastases or other sites of tumor metastasis, is an important part of the treatment for these patients. But prior treatment with chemotherapy might lead to the development of different special biological forms of germ cell tumors, including the so-called growing teratoma syndrome, somatic-type malignancies, sarcomatoid yolk-sac tumors, vasculogenic mesenchymal lesions, and trophoblastic tumors as well as unspecific changes. Pathologists should be aware of these different histopathologic changes associated with chemotherapy in germ cell tumor patients, as these might even occur years after the initial therapy. This article discusses the classic morphologic subtypes of germ cell tumors and the development of chemotherapy resistance and examines special morphologic forms and the diagnostic handling of postchemotherapy resection specimens.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Spectrum of Pulmonary Perivascular Epithelioid Cell Tumors (PEComa).","authors":"Gerald J Berry, Thomas K Watkins, Steven J Ruoss","doi":"10.1097/PAP.0000000000000548","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000548","url":null,"abstract":"<p><p>The perivascular epithelioid cell family of neoplasms in the lung encompass lymphangioleiomyomatosis, angiomyolipoma, angioleiomyoma, and perivascular epithelioid cell tumor (PEComa). They share the unique attribute of immunoreactivity for both melanocytic and muscle markers. Some are primary pulmonary neoplasms, while others, such as lymphangioleiomyomatosis, are now thought to represent metastatic, indolent tumors from uterine sites of origin. The clinical and morphologic appearances vary considerably, but a genetic link with tuberous sclerosis complex is a common feature. Considerable advances in our understanding of tumor biology, management, and treatment have been made over the last 2 decades, particularly for lymphangioleiomyomatosis. This review will highlight those advances and our current understanding of pulmonary PEComa-related lesions.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148560387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathobiology and Interactions of the MiTF Signaling Pathways.","authors":"Maria S Tretiakova","doi":"10.1097/PAP.0000000000000539","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000539","url":null,"abstract":"<p><p>MiT/TFE family of transcription factors, including MiTF, TFE3, TFEB, and TFEC genes, control transcriptional programs for autophagy and lysosome biogenesis and regulate energy metabolism in many cancers. Chromosomal translocations and amplifications involving the MiT/TFE genes contribute to the etiology and pathophysiology of renal cell carcinoma, melanoma, sarcomas, and many other tumors. Understanding the roles of MiT/TFE factors in cellular homeostasis, oncogenic, and stress-adaptive regulation through transcriptionally regulated pathways may reveal new strategies for cancer diagnostics, prognostication, and treatment.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148366668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary and Familial Tumor Syndromes: When to Think of Them? The Emerging Role of Pathologists as Sentinels of Genetic Cancer Predisposition.","authors":"Vania Nosé, Sule Canberk, Abbas Agaimy","doi":"10.1097/PAP.0000000000000545","DOIUrl":"10.1097/PAP.0000000000000545","url":null,"abstract":"<p><p>Germline predisposition contributes to at least 10% of human malignancies and is identified in ∼8.5% to 10% of pediatric cancers, with notably higher frequencies in specific tumor types, including over 60% in adrenocortical carcinoma and 17% to 20% in osteosarcoma. In certain tumors, hereditary predisposition is a defining or highly characteristic feature. Advances in next-generation sequencing have significantly reshaped our understanding of hereditary tumor biology, revealing molecularly distinct neoplasms linked by shared germline alterations and enabling the recognition of new cancer predisposition syndromes. This evolving knowledge is reflected in the WHO Classification of Tumors: Genetic Tumor Syndromes, which provides an integrated, cross-disciplinary diagnostic framework. Surgical pathologists play a central role in this landscape. Careful morphologic assessment, supported by targeted immunohistochemistry and clinical context, often allows the pathologist to identify features of germline predisposition-sometimes as the first or only clinician to do so, even in the absence of a relevant family history. This review highlights 13 practical morphologic and clinicopathological clues that should prompt consideration of a hereditary tumor syndrome, summarizes key immunohistochemical tools for syndromic triage, and presents an organ-based overview of major hereditary cancer syndromes. The goal is to provide a practical framework to support the pathologist's role in recognizing hereditary cancer.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"218-230"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148248765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.","authors":"Emily M Hartsough, Yin P Hung","doi":"10.1097/PAP.0000000000000508","DOIUrl":"10.1097/PAP.0000000000000508","url":null,"abstract":"<p><p>There are inherited germline variants that predispose patients to select mesenchymal tumors with associated tumor syndromes. While many of these tumors are clinically suspected or diagnosed early in life, pathologists can play a critical role in their initial recognition and reporting, prompting appropriate confirmatory testing and follow-up for the affected patient and screening for their family members. Hereditary conditions commonly encountered in association with bone and soft tissue pathology include Hereditary Multiple Osteochondromas, Familial Adenomatous Polyposis, Carney Complex, and Neurofibromatosis Type I. Additional syndromes include Rhabdoid Tumor Predisposition Syndrome, Familial Schwannomatosis, DICER1 syndrome, and others. Herein, we describe select bone and soft tissue tumors associated with familial syndromes, aiming to provide a guide for practicing surgical pathologists on how to recognize these lesions and when they should raise the possibility of an associated hereditary condition.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"266-276"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144726365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of The Surgical Pathologist in the Recognition of Hereditary Gynecologic Cancer.","authors":"Fabiola Medeiros, Jennifer A Bennett","doi":"10.1097/PAP.0000000000000509","DOIUrl":"10.1097/PAP.0000000000000509","url":null,"abstract":"<p><p>A wide spectrum of tumors can affect the gynecologic tract in the context of hereditary cancer syndromes. Over the past two decades, the approach to germline testing initiated by pathologic findings has evolved considerably. This shift began with the identification and integration of specific tumor characteristics and molecular pathways in the most common hereditary syndromes involving the female genital tract, namely, hereditary breast and ovarian cancer syndrome and Lynch syndrome. Subsequently, tumors linked to less common syndromes, such as Peutz-Jeghers syndrome, DICER1 syndrome, tuberous sclerosis complex, hereditary leiomyomatosis and renal cell carcinoma syndrome, and rhabdoid tumor predisposition syndrome type 2 have also been recognized. This review focuses on the clinicopathologic features of these hereditary conditions, with particular emphasis on histologic patterns and genetic testing.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":"33 4","pages":"245-265"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148597640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skin Manifestations of Hereditary Cancer Syndromes: A Clinicopathologic Review.","authors":"Michelle D Colbert, Setu Mittal, Johanna Ghebrehiwet-Kuflom, Julia S Lehman, Lori A Erickson, Nessa A Mohandesi","doi":"10.1097/PAP.0000000000000534","DOIUrl":"10.1097/PAP.0000000000000534","url":null,"abstract":"<p><p>The focus of this review is the clinical and pathologic presentations of hereditary cancer syndromes with cutaneous manifestations, with the goal of providing a reference for the multidisciplinary care teams involved in the diagnosis and management of these conditions. Advancements in genomics have led to newly recognized syndromes and a deeper understanding of established syndromes. We focus on those with the most relevant cutaneous manifestations. Clinical and histopathologic images provide visual context for these findings, many of which are rare. We summarize the established literature and incorporate new research and noteworthy case reports.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"304-330"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147669750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of the Surgical Pathologist in the Recognition of Hereditary SDH-Deficient Tumor Syndromes.","authors":"C Christofer Juhlin, Ozgur Mete","doi":"10.1097/PAP.0000000000000541","DOIUrl":"10.1097/PAP.0000000000000541","url":null,"abstract":"<p><p>Succinate dehydrogenase (SDH)-deficient tumors form an expanding, clinically important group of neoplasms driven by disruption of mitochondrial complex II through germline or somatic alterations in SDHA-D or SDHAF2 , or by epigenetic silencing within the pathway. For the surgical pathologist, recognition of SDH deficiency has immediate implications for risk stratification, treatment selection, and identification of patients who may require genetic counseling and family surveillance. This review provides a practical, pathology-focused overview of SDH-deficient tumor syndromes, emphasizing the clinicopathologic spectrum of paraganglioma-pheochromocytoma syndromes (PGL1-5), SDH-deficient gastrointestinal stromal tumor, SDH-deficient renal cell carcinoma, Carney-Stratakis syndrome, and Carney triad. We highlight recurring morphologic cues across tumor types, outline a stepwise workflow integrating histology, SDHB and SDHA immunohistochemistry and targeted molecular testing, and discuss interpretive pitfalls.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"277-290"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148222524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recognizing Familial Thyroid Neoplasia: The Pathologist's Role in Diagnosis and Management.","authors":"Vania Nosé, Sule Canberk, Zubair Baloch","doi":"10.1097/PAP.0000000000000543","DOIUrl":"10.1097/PAP.0000000000000543","url":null,"abstract":"<p><p>Thyroid carcinoma is the most common endocrine malignancy, with papillary thyroid carcinoma (PTC) comprising most cases and arising from follicular epithelial cells. Although most follicular cell-derived thyroid carcinomas are sporadic and driven by acquired genetic alterations, a subset reflects an inherited predisposition. Increasing recognition of familial thyroid carcinoma has been prompted by advances in molecular genetics and by heightened awareness of recurring clinicopathologic patterns, including early age at onset, multifocal and bilateral disease, associated benign follicular proliferations, and, in some cases, multiorgan tumor involvement. Awareness of these features is essential, as they may represent the first diagnostic clue to an underlying familial tumor syndrome. The 2022 World Health Organization classification formally recognizes familial thyroid carcinoma and subdivides these tumors into familial medullary thyroid carcinoma and familial nonmedullary thyroid carcinoma (FNMTC). FNMTC comprises a genetically heterogeneous and underrecognized group of follicular-cell-derived neoplasms, most commonly presenting as multifocal PTC, and includes both syndromic forms associated with extra-thyroidal tumors and nonsyndromic forms in which thyroid carcinoma predominates. In contrast, familial medullary thyroid carcinoma arises from parafollicular C cells, often with bilateral tumors and C-cell hyperplasia as a precursor lesion, and is most frequently encountered in the setting of multiple endocrine neoplasia. This review highlights histopathologic features that should prompt consideration of familial thyroid carcinoma and underscores the pathologist's vital role in identifying these entities and facilitating appropriate molecular evaluation and clinical management.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"291-303"},"PeriodicalIF":2.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148283049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}