{"title":"The Diagnostic Spectrum of Myelodysplastic Syndromes and Acute Myeloid Leukemia.","authors":"Daniel A Arber, Attilio Orazi","doi":"10.1097/PAP.0000000000000485","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000485","url":null,"abstract":"<p><p>The International Consensus Classification (ICC) of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) expands on the work of prior classifications to refine the diagnostic criteria for MDS and AML and to identify specific genetic disease subtypes. This review summarizes the approach to the diagnosis of MDS and AML from the ICC perspective. For MDS, the significance of detecting mutations in SF3B1, usually associated with ring sideroblasts, as well as the poor prognosis of mutations of TP53 are now included. For AML, new genetic categories are included, and the classification now incorporates additional clinically significant gene mutations by recognizing AML with TP53 mutation and AML with mutations in genes associated with prior therapy or MDS. Finally, the new category of MDS/AML is introduced for adult patients without recurrent de novo genetic abnormalities with 10% to 19% peripheral blood or bone marrow blasts that allow for more treatment flexibility based on clinical findings. While the increase in genetic categories and changes in blast cell requirements can be confusing, a stepwise approach is provided to allow easy use of the classification.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078323","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":"Steatotic Liver Disease: Navigating Pathologic Features, Diagnostic Challenges, and Emerging Insights.","authors":"Jingjing Jiao, Xuchen Zhang","doi":"10.1097/PAP.0000000000000483","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000483","url":null,"abstract":"<p><p>Steatotic liver disease (SLD) is now used as an overarching category encompassing five subcategories: metabolic dysfunction-associated steatotic liver disease (MASLD), metabolic and alcohol related/associated liver disease (MetALD), alcohol-related/associated liver disease (ALD), SLD with specific etiology, and cryptogenic SLD. This review summarizes foundational and recent advances in the histologic evaluation of SLD, including common pathologic features across all subcategories, distinctions associated with different etiologies, scoring and grading systems, and the evolution of digital pathology techniques for SLD assessment.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078213","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":"Diagnosis and Classification of Follicular Lymphoma and Related Entities.","authors":"Camille Laurent, James R Cook","doi":"10.1097/PAP.0000000000000481","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000481","url":null,"abstract":"<p><p>Follicular lymphoma (FL) is a mature B cell neoplasm classically characterized by B cells harboring the t(14;18) IGH::BCL2 leading to the overexpression of BCL2 in most cases. Conventional FL occurs in lymph nodes and typically shows a follicular B-cell proliferation expressing at least one germinal center marker. Two early lesions closely related to conventional FL are recognized as variants, namely in situ follicular neoplasia (ISFN), and duodenal-type follicular lymphoma (DTFL). FL lacking BCL2 rearrangement (BCL2-R negative) accounts for around 10% to 15% of FLs and constitutes a heterogeneous group of FLs. Most of these alternative forms of FL are considered as distinct entities separate from conventional FL in the 2022 International Consensus Classification. This review aims to summarize the key pathologic and diagnostic features of FL conventional and its alternative forms as well as further emphasize the increasing role of molecular studies in the diagnostic work-up.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078210","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":"Advances in the Classification of Aggressive B-cell Lymphomas.","authors":"Leonie Frauenfeld, Elias Campo","doi":"10.1097/PAP.0000000000000484","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000484","url":null,"abstract":"<p><p>Aggressive B-cell lymphomas are a biologically and clinically very heterogeneous group of tumors that may be related to different stages of B-cell differentiation development. This review aims to summarize recent advances in the understanding of these tumors with a focus on the practical approach to the diagnosis of these entities. We analyze the defining characteristics of the different subtypes of aggressive B-cell lymphomas, including nodal and extranodal diffuse large B-cell lymphoma, virus-associated lymphomas, terminally differentiated B-cell lymphomas, high-grade B-cell lymphomas, and Burkitt lymphoma. This review particularly explores the integration of morphologic, immunophenotypic, and genetic data that refine diagnostic accuracy and prognostic stratification, underscoring the necessity for a standardized approach in clinical practice. By synthesizing current knowledge, this review aims to enhance the understanding of aggressive B-cell lymphomas within the context of the evolving classification system, paving the way for future research and clinical advancements.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982421","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":"Typing of Vulvar Squamous Cell Carcinoma: Why it is Important?","authors":"Mona Alfaraidi, C Blake Gilks, Lynn Hoang","doi":"10.1097/PAP.0000000000000466","DOIUrl":"10.1097/PAP.0000000000000466","url":null,"abstract":"<p><p>The classification of vulvar squamous cell carcinoma (VSCC), as in endometrial cancer, has shifted from the histology-based descriptors toward molecular-based identifiers. Recently, it has been reported that there are 3 genetically distinct and clinically significant subtypes of VSCC: HPV-associated VSCC, HPV-independent/p53 wild-type VSCC, and HPV-independent/p53-mutated VSCC. Each group has different prognostic implications as well as response to treatment, thus reinforcing the need for this 3-tier molecular classification. This molecular subtyping can easily be done on vulvar biopsies using p16 and p53 immunohistochemistry stains to further improve risk prediction and individualized treatment decisions, leading to better patient outcomes.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"20-29"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339147","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":"Risk Stratification of Miscellaneous Uterine Mesenchymal Neoplasms: The Role of Morphology, Immunohistochemistry, and Molecular Testing.","authors":"Nicholas Ladwig, Baris Boyraz","doi":"10.1097/PAP.0000000000000479","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000479","url":null,"abstract":"<p><p>Uterine mesenchymal tumors are a diverse group of tumors that can display a broad range of morphologic, immunohistochemical, and molecular profiles and are associated with varied clinical behaviors. In recent years, they have increasingly been classified by their underlying molecular alterations, leading to a more precise separation of diagnostic entities. As their diagnostic criteria have been refined, so too have the features that can be used to predict clinical outcomes. This review includes a discussion of uterine inflammatory myofibroblastic tumors, perivascular epithelioid cell tumors (PEComa), and uterine tumors resembling ovarian sex cord tumors, with a focus on updates on their clinical behavior and tools for risk stratification to identify malignant tumors. In addition, we discuss the importance of using an integrated approach when classifying uterine mesenchymal tumors to improve diagnostic accuracy and guide clinical management.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":"32 1","pages":"57-69"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142875722","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}
Amir Momeni-Boroujeni, Marisa R Nucci, David B Chapel
{"title":"Risk Stratification of Uterine Smooth Muscle Tumors: The Role of Morphology, Immunohistochemistry, and Molecular Testing.","authors":"Amir Momeni-Boroujeni, Marisa R Nucci, David B Chapel","doi":"10.1097/PAP.0000000000000478","DOIUrl":"https://doi.org/10.1097/PAP.0000000000000478","url":null,"abstract":"<p><p>Uterine smooth muscle neoplasms are a biologically and clinically heterogeneous group of tumors. Morphology is the cornerstone of pathologic diagnosis of these tumors, and most are readily classified as benign or malignant on the basis of routine histologic examination. However, rare subsets-including intravenous leiomyomatosis, benign metastasizing leiomyoma, and disseminated peritoneal leiomyomatosis-have a capacity for extrauterine spread despite benign cytomorphology. A further subset of uterine smooth muscle neoplasms, termed \"smooth muscle tumor of uncertain malignant potential (STUMP),\" are not readily classified as benign or malignant and carry an intermediate prognosis. STUMP is a protean category, whose precise definition is subject to disagreement among experts. The risk profiles of different STUMP morphotypes remain largely unresolved. Finally, multiple morphology-based systems for risk stratification of uterine leiomyosarcoma have been proposed, though none is widely adopted. Immunohistochemical and molecular prognostic markers for both STUMP and leiomyosarcoma remain in the early phases of adoption in routine diagnostic practice.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":"32 1","pages":"44-56"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142875764","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":"Ovarian Sex Cord-Stromal Neoplasms: An Overview of Molecular Events and How to Correlate Morphology With Molecular Findings.","authors":"Joseph T Rabban, W Glenn McCluggage","doi":"10.1097/PAP.0000000000000474","DOIUrl":"10.1097/PAP.0000000000000474","url":null,"abstract":"<p><p>Since the discovery in 2009 that missence pathogenic variants/mutations in FOXL2 are extremely common in ovarian adult granulosa cell tumours, the last 2 decades have witnessed significant developments in our understanding of the molecular events underlying the pathogenesis of other ovarian sex cord-stromal tumours (SCSTs). In this review, we cover the molecular events in ovarian SCSTs and provide practical guidance to the reporting pathologist as to how and when molecular testing may be useful in diagnosis. We stress the need to correlate the morphology and molecular since most of the molecular events are not entirely specific for a particular tumour type and our knowledge is continually evolving with the elucidation of \"new\" molecular events. We also discuss that in some tumours, molecular testing is helpful in triaging the patient for genetic referral and germline testing since some of the molecular events may be germline in nature.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"70-84"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142566673","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":"Precancerous Lesions of HPV-independent Vulvar Squamous Cell Carcinoma: Clinicopathologic Consideration of an Evolving Spectrum.","authors":"Jaclyn Watkins, Oluwole Fadare","doi":"10.1097/PAP.0000000000000472","DOIUrl":"10.1097/PAP.0000000000000472","url":null,"abstract":"<p><p>HPV-independent squamous cell carcinomas of the vulva comprise the majority of vulvar cancers, but their putative precancers represent only a small proportion of the vulvar squamous intraepithelial lesions that are encountered in routine practice. The precancerous lesions of HPV-independent vulvar squamous cell carcinoma encompass a spectrum of lesions that, collectively, may pose significant diagnostic challenges. Included in this spectrum are differentiated vulvar intraepithelial neoplasia [dVIN], the prototypical lesion of the group, which is characterized by a high propensity for progression, a relatively short duration to progression, frequent association with lichen sclerosus, and according to our review of the recent literature, TP53 /p53 aberration in 50% to 95% (mean 77.4%) of cases. Regarding the latter, some authors consider TP53 /p53 aberration to be a diagnostic requirement for dVIN, although this is controversial, as discussed further herein. Also included in the spectrum of lesions that are considered in this review are possibly related HPV-independent, p53-wild type lesions that have historically been reported as \"vulvar acanthosis with altered differentiation\" (VAAD), \"differentiated exophytic vulvar intraepithelial lesion\" (DEVIL), \"verruciform lichen simplex chronicus\" (vLSC), and which more recently, have collectively been described as \"verruciform acanthotic vulvar intraepithelial neoplasia (vaVIN)\" or \"vulvar aberrant maturation (VAM).\" In this review, we perform a comprehensive clinicopathologic review of putative precancerous lesions of HPV-independent squamous cell carcinomas of the vulva, with an emphasis on recent developments in terminology, practical diagnostic issues, biomarkers, and pathogenesis.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"4-19"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142566676","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":"STK11 Adnexal Tumor: Exploring the Association With Peutz-Jeghers Syndrome and its Distinction From Morphologic Mimickers.","authors":"Jennifer A Bennett, Esther Oliva","doi":"10.1097/PAP.0000000000000460","DOIUrl":"10.1097/PAP.0000000000000460","url":null,"abstract":"<p><p>STK11 adnexal tumor is a novel malignant neoplasm of uncertain histogenesis frequently arising in a para-adnexal location and associated with Peutz-Jeghers syndrome in ∼50% of patients. Its broad morphologic spectrum and nonspecific immunohistochemical profile has resulted in misclassification in the past as a variety of other neoplasms including those of wolffian, sex cord-stromal, mesothelial, and epithelial derivation. This review focuses on the spectrum of adnexal neoplasms that may develop in Peutz-Jeghers syndrome, with particular emphasis on STK11 adnexal tumor and its differential diagnosis.</p>","PeriodicalId":7305,"journal":{"name":"Advances In Anatomic Pathology","volume":" ","pages":"98-108"},"PeriodicalIF":5.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142118760","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}