Advances In Anatomic Pathology最新文献

The Dublin ISUP Consensus Conference covered the proceedings on the best practice recommendations on nonurachal glandular lesions of the urinary bladder, bladder diverticular cancers, and molecular features of bladder and urachal glandular lesions. The conference proceedings on urachal neoplasms (except for their molecular features) are published elsewhere. The rationale for convening this conference was the lack of structured and consented pathologic recommendations in these rare lesions. Consensus by participants was reached on the following statements: (1) intestinal metaplasia with dysplasia is considered to be a precursor to primary bladder adenocarcinoma; (2) dysplasia arising from cystitis glandularis should be reported in terms of focality (focal or nonfocal) and grade (low or high); (3) the term "adenocarcinoma" should only be used for carcinomas showing pure (nonurothelial) morphology and should not be used interchangeably in urothelial carcinoma with "glandular differentiation" because of the pathobiological differences and management implications; (4) the different histologic subtypes of bladder adenocarcinoma should be specified in the report; (5) immunohistochemistry has an ancillary role in the work up of bladder adenocarcinoma versus gastrointestinal or Müllerian-type adenocarcinomas; (6) lymphovascular invasion should be included as a parameter when reporting bladder adenocarcinoma; (7) representative or targeted sampling will be sufficient for bladder diverticulum resection specimens; and (8) molecular analysis in genomic profiling should be performed only in advanced or metastatic bladder and urachal adenocarcinomas for targetable therapy. This report on glandular (nonurachal) lesions of the bladder from the Dublin ISUP consensus conference will serve as a best practice recommendation and as a guide for future research on these relatively rare lesions.

DICER1 plays a crucial role in the biogenesis and maturation of microRNAs. Germline mutations in the DICER1 gene are associated with an increased risk of developing a wide range of benign and malignant neoplasms. The same tumors may also arise sporadically due to somatic DICER1 mutations. In syndromic patients, a germline loss-of-function DICER1 mutation is usually followed by a somatic hotspot mutation in the tumor as a second hit. In the gynecologic tract, DICER1 -associated neoplasms include most commonly embryonal rhabdomyosarcoma and moderately to poorly differentiated Sertoli-Leydig cell tumor, and less frequently pleuropulmonary blastoma-like peritoneal sarcoma, adenosarcoma, gynandroblastoma, juvenile granulosa cell tumor, and Sertoli cell tumor. Irrespective of the primary site of origin, DICER1 -associated neoplasms frequently share characteristic morphology, including primitive mesenchyme, fetal-type epithelium, fetal-type cartilage, rhabdomyoblastic and/or neuroectodermal differentiation, osteoid formation, and anaplasia. Recognition of these distinctive features in gynecologic tumors should prompt consideration of a DICER1 -associated neoplasm followed by genetic testing, thereby facilitating surveillance for patients and their families. As illustrated in this review, the morphologic spectrum of most DICER1 -mutant gynecologic neoplasms (eg, DICER1 -related Wilms-like uterine tumor) appears to be wider than that of any known type of sarcoma. Therefore, we propose that the term " DICER1 -related primitive polyphenotypic neoplasm" may be more inclusive of the diverse histologic features and thus more appropriate for these unique neoplasms.

The occurrence of spindle cell tumors of the pleural other than the conventional sarcomatoid mesothelioma or solitary fibrous tumor, is rather unusual. Clinically and radiologically, patients with these tumors may show similar features as those associated with the more common neoplasms of the pleura. Therefore, histopathologic assessment of those lesions is highly important. However, it is also important to highlight the role that immunohistochemistry plays in separating these tumors, as some of these neoplasms may show similar immunophenotype with mesothelioma. Even though in most of these cases, the use of immunohistochemistry can provide valid information to properly separate these tumors, in some more unusual circumstances, the use of molecular techniques may further aid in the characterization of these tumors. Nevertheless, it is highly important not only to acknowledge the existence of these tumors arising primarily in the pleura but also to keep them in the differential diagnosis of primary spindle cell neoplasms of the pleura.

Hemangioblastoma-like clear cell stromal tumor (HLCCST) of the lung is an exceptionally rare mesenchymal neoplasm that is generally considered benign. Current knowledge of this tumor remains limited. Histologically, HLCCST is defined by a hypervascular stroma with dilated blood vessels and is predominantly composed of epithelial-like cells arranged in solid sheets or nests with uniform morphology. Molecular genetic studies have identified YAP1::TFE3 gene fusions as a hallmark in most reported cases. To date, in addition to our case, a total of 19 HLCCST cases have been reported across 7 publications. Here, we present a comprehensive review of HLCCST, detailing its clinicopathologic features, key molecular alterations, and prognostic data of HLCCST. In addition, we emphasize the importance of accurate recognition and diagnosis of this rare tumor to ensure appropriate treatment and improved patient outcomes.

Laryngectomy margin assessment is an important part of patient care and can affect outcomes. There is no standard approach to grossing laryngectomy specimens, with variations in the published guidelines. A uniform approach to margin assessment may be helpful to improve patient care and future research. At the very least, sampling of all mucosal margins (arytenoid area, hypopharyngeal, and anterior epiglottis) and tracheal margin should be performed. Sampling of soft tissue margins may be delegated to the pathologist, and contingent on the tumor extent into soft tissue. If a tracheostomy is present, skin and soft tissue margins should be sampled from the stoma. This review provides a template for laryngectomy margin assessment and can be used as a guideline as to which margins should be assessed.

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.

Autoimmune hepatitis (AIH) is a rare immune-mediated chronic liver disease that is diagnosed based on a combination of biochemical, immunologic, and histologic features and the exclusion of other causes of liver disease. According to the new consensus criteria of the International Autoimmune Hepatitis Pathology Group (IAIHPG), the likely histologic features include a chronic hepatitis pattern of injury with a lymphoplasmacytic portal infiltrate, interface activity, and portal-based fibrosis. More than mild lobular hepatitis with any of the above features can also be diagnosed as likely AIH in the absence of features of another liver disease. Centrilobular injury with prominent hepatocellular necrosis and mononuclear inflammation may represent an acute-onset disease and indicate possible AIH in the absence of concurrent liver disease. Kupffer cell hyaline bodies and portal lymphocyte apoptosis are significantly associated with AIH, whereas emperipolesis and hepatocellular rosette formation are nonspecific features indicative of disease severity. Liver histology is an integral part of the clinical diagnostic scoring system and is required to confirm or support AIH diagnosis. Substitution of the histologic component of the simplified AIH scoring system with the consensus IAIHPG criteria has been proposed to optimize clinical diagnosis. This review explores the significant role of histopathology in AIH by analyzing its main features and current histologic diagnostic criteria, different AIH presentations, differential diagnosis, assessment of concurrent liver disease, and identification of AIH variants with primary cholangiopathy.

Despite the growing availability of noninvasive and faster diagnostic modalities, biopsy remains an important tool in the diagnosis and management of liver diseases. However, it is not uncommon that liver biopsies reveal normal or near normal histologic findings in patients with abnormal liver biochemistries, elevated autoantibodies, clinical findings suggestive of portal hypertension, systemic autoimmune or inflammatory diseases, hepatomegaly, cirrhosis by imaging, or other indications. These scenarios present significant diagnostic challenges and are rarely discussed in detail in the literature or textbooks. This article aims to provide a comprehensive review of a group of selected rare liver diseases, with a focus on metabolic, storage and inclusion disorders, that may exhibit a near-normal histology on biopsy. By recognizing subtle histologic features and correlating with clinical history, laboratory results and imaging findings, it is often possible to narrow down the differential diagnosis. In many cases, this integrative approach can yield a definitive diagnosis, allowing for tailored treatment and better patient outcomes.