Archives of pathology & laboratory medicine最新文献

{"title":"Transcription Factor Immunohistochemistry in the Classification of Pituitary Neuroendocrine Tumor/Adenoma: Proposal in a Limited-Resource Setting.","authors":"Ridhi Sood, Debajyoti Chatterjee, Pinaki Dutta, Bishan Dass Radotra","doi":"10.5858/arpa.2021-0479-OA","DOIUrl":"10.5858/arpa.2021-0479-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Pituitary neuroendocrine tumors/adenomas are common intracranial tumors that require accurate subtyping because each tumor differs in its biologic behavior and response to treatment. Pituitary-specific transcription factors allow for improved lineage identification and diagnosis of newly introduced variants.</p><p><strong>Objective.—: </strong>To assess the usefulness of transcription factors and design a limited panel of immunostains for classification of pituitary neuroendocrine tumors/adenoma.</p><p><strong>Design.—: </strong>A total of 356 tumors were classified as per expression of pituitary hormones and transcription factors T-box family member TBX19 (TPIT), pituitary-specific POU-class homeodomain (PIT1), and steroidogenic factor-1 (SF-1). The resultant classification was correlated with patients' clinical and biochemical features. The performance and relevance of individual immunostains were analyzed.</p><p><strong>Results.—: </strong>Reclassification of 34.8% (124 of 356) of pituitary neuroendocrine tumors/adenoma was done after application of transcription factors. The highest agreement with final diagnosis was seen using a combination of hormone and transcription factors. SF-1 had higher sensitivity, specificity, and predictive value compared with follicle-stimulating hormone and luteinizing hormone. On the other hand, TPIT and PIT1 had similar performance and Allred scores compared with their respective hormones.</p><p><strong>Conclusions.—: </strong>SF-1 and PIT1 should be included in the routine panel for guiding the classification. PIT1 positivity needs to be followed by hormone immunohistochemistry, especially in nonfunctional cases. TPIT and adrenocorticotropin can be used interchangeably as per availability of the lab.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9752382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Significant Increase in the Incidence of Neonatal Hyperbilirubinemia and Phototherapy Treatment Due to a Routine Change in Laboratory Equipment.","authors":"Marlies Oostendorp, Christine H Ten Hove, Miranda van Berkel, Lian Roovers","doi":"10.5858/arpa.2022-0478-OA","DOIUrl":"10.5858/arpa.2022-0478-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Total serum bilirubin (TSB) analysis is pivotal for diagnosing neonatal hyperbilirubinemia. Because of a routine change in laboratory equipment, our TSB assay changed from a diazo to a vanadate oxidase method. Upon implementation, TSB results were substantially higher in newborns than expected based on the validation.</p><p><strong>Objective.—: </strong>To investigate the application of TSB and intermethod differences in neonates and their impact on phototherapy treatment.</p><p><strong>Design.—: </strong>The diazo and vanadate methods were compared directly using neonatal and adult samples. Anonymized external quality control data were analyzed to explore interlaboratory differences among 8 commercial TSB assays. Clinical patient data were extracted from the medical records to investigate the number of newborns receiving phototherapy.</p><p><strong>Results.—: </strong>The mean bias of the vanadate versus the diazo TSB method was +17.4% and +3.7% in neonatal and adult samples, respectively. External quality control data showed that the bias of commercial TSB methods compared with the reference method varied from -3.6% to +20.2%. Within-method variation ranged from 5.2% to 16.0%. After implementation of the vanadate TSB method, the number of neonates treated with phototherapy increased approximately threefold.</p><p><strong>Conclusions.—: </strong>Currently available TSB assays lack harmonization for the diagnosis of neonatal hyperbilirubinemia. Between-methods differences are substantially higher in neonatal compared with adult samples, highlighting the importance of including neonatal samples during assay validation. Close collaboration between laboratory specialists and clinicians is essential to prevent overtreatment or undertreatment upon the implementation of novel analyzers or assays. Also, harmonization of TSB assays, with an emphasis on neonatal application, is warranted.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10084250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Representation of Authors by Gender, Race, and Ethnicity in Pathology Clinical Practice Guidelines.","authors":"Amarilis A Martin, Shannon C Walker, Allison P Wheeler, Jeremy W Jacobs, Garrett S Booth, Julie K Silver","doi":"10.5858/arpa.2022-0351-OA","DOIUrl":"10.5858/arpa.2022-0351-OA","url":null,"abstract":"<p><strong>Context.—: </strong>United States' clinical practice guidelines (CPGs) are often produced by professional societies and used worldwide in daily medical practice. However, studies in various medical specialties demonstrate underrepresentation of women and racial and ethnic minority groups in CPGs. The representation of authors by gender, race, and ethnicity of US pathology CPGs has not been previously evaluated.</p><p><strong>Objective.—: </strong>To assess if women and individuals from racial and ethnic minority groups are underrepresented as authors of pathology CPGs.</p><p><strong>Design.—: </strong>The gender, race, ethnicity, and terminal degrees of authors of 18 CPGs from the College of American Pathologists were coded by using photographs and other available information online and compared to their representation in academic pathology per Association of American Medical Colleges benchmark data.</p><p><strong>Results.—: </strong>Two hundred seventy-five author positions (202 physician author positions) were analyzed. Women overall (119 of 275; 43.3%) and women physicians (65 of 202; 32.2%) held fewer positions than all men and men physicians. Women physicians were significantly underrepresented in physician author positions, while White men physicians were significantly overrepresented in all, first, senior, and corresponding authorship roles when compared to the proportion of women and White men physicians among pathology faculty, respectively. Asian men and women physicians were underrepresented as compared to their representation among pathology faculty.</p><p><strong>Conclusions.—: </strong>Men, particularly White men physicians, are overrepresented among pathology CPG author positions, while women physicians and some physicians from racial and ethnic minority groups are underrepresented. Further research is needed to understand the impact of these findings on the careers of underrepresented physicians and the content of guidelines.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9460836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Noninvasive Papillary Urothelial Carcinoma of the Bladder: An Institutional Experience Focusing on Tumors With Borderline Features.","authors":"Jennifer M Oliver-Krasinski, Samuel Bidot, Justin W Ingram, Kathleen M O'Toole, James M McKiernan, Mazie Tinsley, Lara R Harik","doi":"10.5858/arpa.2022-0268-OA","DOIUrl":"10.5858/arpa.2022-0268-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Noninvasive papillary urothelial carcinomas (PUCs) comprise most urinary bladder tumors. Distinction between low-grade (LG-PUC) and high-grade (HG-PUC) PUCs is pivotal for determining prognosis and subsequent treatment.</p><p><strong>Objective.—: </strong>To investigate the histologic characteristics of tumors with borderline features between LG-PUC and HG-PUC, focusing on the risk of recurrence and progression.</p><p><strong>Design.—: </strong>We reviewed the clinicopathologic parameters of noninvasive PUC. Tumors with borderline features were subcategorized as follows: tumors that look like LG-PUC but have occasional pleomorphic nuclei (1-BORD-NUP) or elevated mitotic count (2-BORD-MIT), and tumors with side-by-side distinct LG-PUC and less than 50% HG-PUC (3-BORD-MIXED). Recurrence-free, total progression-free, and specific invasion-free survival curves were derived from the Kaplan-Meier method, and Cox regression analysis was performed.</p><p><strong>Results.—: </strong>A total of 138 patients with noninvasive PUC were included, with the following distribution: LG-PUC (n = 52; 38%), HG-PUC (n = 34; 25%), BORD-NUP (n = 21; 15%), BORD-MIT (n = 14; 10%), and BORD-MIXED (n = 17; 12%). Median (interquartile range) follow-up was 44.2 months (29.9-73.1 months). Invasion-free survival was different between the 5 groups (P = .004), and pairwise comparison showed that HG-PUC had a worse prognosis compared with LG-PUC (P ≤ .001). On univariate Cox analysis, HG-PUC and BORD-NUP were 10.5 times (95% CI, 2.3-48.3; P = .003) and 5.9 times (95% CI, 1.1-31.9; P = .04) more likely to invade, respectively, when compared to LG-PUC.</p><p><strong>Conclusions.—: </strong>Our findings confirm a continuous spectrum of histologic changes in PUC. Approximately a third of noninvasive PUCs show borderline features between LG-PUC and HG-PUC. Compared with LG-PUC, BORD-NUP and HG-PUC were more likely to invade on follow-up. BORD-MIXED tumors did not statistically behave differently from LG-PUC.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9460844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantification of Mucosal Mast Cells in the Gastrointestinal Tract: A Primer for Practicing Pathologists.","authors":"Robert M Genta, Kevin O Turner, Margaret H Collins, Joshua B Wechsler, Nicoleta C Arva, Maria A Pletneva, Evan S Dellon, Marjorie M Walker","doi":"10.5858/arpa.2023-0070-OA","DOIUrl":"10.5858/arpa.2023-0070-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Mast cells are essential components of the immune system and play crucial pathogenetic roles in several digestive diseases, including mastocytic enterocolitis and eosinophilic gastrointestinal disorders. Pathologists have rarely been asked to evaluate the distribution and density of mast cells in gastrointestinal (GI) biopsy specimens. However, such requests are becoming more common because of an increasing awareness of the role of mast cells in functional GI disease and in both esophageal and nonesophageal eosinophilic gastrointestinal disorders.</p><p><strong>Objective.—: </strong>To provide pathologists with tools to incorporate the assessment of mast cells in the evaluation of esophageal, gastric, and intestinal specimens by developing a systematic approach to their evaluation, counting, and reporting.</p><p><strong>Design.—: </strong>This study consisted of a review of the literature followed by multiple consensus sessions to decide where to count mast cells and what a countable mast cell is.</p><p><strong>Results.—: </strong>We reviewed 135 papers addressing the content of mast cells in the digestive tract, selected 21 that detailed how cells were counted (microscope lens, area of high-power fields, locations evaluated, type of cells considered as countable), and summarized their data in a table. Then, drawing from both the acceptable literature and our own extensive experience, we reached a tentative consensus on: (1) the normal numbers in the different segments of the GI tract; (2) the morphology of countable mast cells; and (3) the locations and strategies for counting them.</p><p><strong>Conclusions.—: </strong>The result is a set of suggestions for reporting mast cell counts, their distribution, and their location in a way clinicians can understand and use for management decisions.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9778205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging Landscape of Targeted Therapy of Breast Cancers With Low Human Epidermal Growth Factor Receptor 2 Protein Expression.","authors":"Gary Tozbikian, Savitri Krishnamurthy, Marilyn M Bui, Michael Feldman, David G Hicks, Shabnam Jaffer, Thaer Khoury, Shi Wei, Hannah Wen, Paula Pohlmann","doi":"10.5858/arpa.2022-0335-RA","DOIUrl":"10.5858/arpa.2022-0335-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Human epidermal growth factor receptor 2 (HER2) status in breast cancer is currently classified as negative or positive for selecting patients for anti-HER2 targeted therapy. The evolution of the HER2 status has included a new HER2-low category defined as an HER2 immunohistochemistry score of 1+ or 2+ without gene amplification. This new category opens the door to a targetable HER2-low breast cancer population for which new treatments may be effective.</p><p><strong>Objective.—: </strong>To review the current literature on the emerging category of breast cancers with low HER2 protein expression, including the clinical, histopathologic, and molecular features, and outline the clinical trials and best practice recommendations for identifying HER2-low-expressing breast cancers by immunohistochemistry.</p><p><strong>Data sources.—: </strong>We conducted a literature review based on peer-reviewed original articles, review articles, regulatory communications, ongoing and past clinical trials identified through ClinicalTrials.gov, and the authors' practice experience.</p><p><strong>Conclusions.—: </strong>The availability of new targeted therapy potentially effective for patients with breast cancers with low HER2 protein expression requires multidisciplinary recognition. In particular, pathologists need to recognize and identify this category to allow the optimal selection of patients for targeted therapy.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9241302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TRPS1 and GATA3 Expression in Invasive Breast Carcinoma With Apocrine Differentiation.","authors":"Jing Wang, Yan Peng, Hongxia Sun, Phyu P Aung, Erika Resetkova, Clinton Yam, Aysegul A Sahin, Lei Huo, Qingqing Ding","doi":"10.5858/arpa.2022-0289-OA","DOIUrl":"10.5858/arpa.2022-0289-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The recently identified immunohistochemical marker TRPS1 is highly sensitive and specific for invasive breast carcinoma, especially triple-negative breast carcinoma. However, TRPS1 expression in special morphologic subtypes of breast cancer is unclear.</p><p><strong>Objective.—: </strong>To investigate the expression of TRPS1 in invasive breast cancer with apocrine differentiation, in comparison to the expression of GATA3.</p><p><strong>Design.—: </strong>A total of 52 invasive breast carcinomas with apocrine differentiation, comprising 41 triple-negative breast carcinomas and 11 estrogen receptor (ER) and progesterone receptor (PR)-negative, human epidermal growth factor receptor 2 (HER2)-positive cases, along with 11 triple-negative breast carcinomas without apocrine differentiation, were evaluated for TRPS1 and GATA3 expression by immunohistochemistry. All tumors were diffusely positive (>90%) for androgen receptor (AR).</p><p><strong>Results.—: </strong>Triple-negative breast carcinoma with apocrine differentiation had positive TRPS1 expression in 12% of cases (5 of 41), whereas GATA3 was positive in all cases. Similarly, HER2+/ER- invasive breast carcinoma with apocrine differentiation showed positive TRPS1 in 18% of cases (2 of 11), whereas GATA3 was positive in all cases. In contrast, triple-negative breast carcinoma with strong AR expression but without apocrine differentiation showed both TRPS1 and GATA3 expression in 100% (11 of 11) of cases.</p><p><strong>Conclusions.—: </strong>Most ER-/PR-/AR+ invasive breast carcinomas with apocrine differentiation are TRPS1 negative and GATA3 positive, regardless of HER2 status. Therefore, TRPS1 negativity does not exclude breast origin in tumors with apocrine differentiation. A panel of TRPS1 and GATA3 immunostains can be helpful when the tissue origin of such tumors is clinically relevant.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9377129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laboratory Test Names Matter: A Survey on What Works and What Doesn't Work for Orders and Results.","authors":"Alexis B Carter, Andrea L Berger, Richard Schreiber","doi":"10.5858/arpa.2021-0314-OA","DOIUrl":"10.5858/arpa.2021-0314-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Health care providers were surveyed to determine their ability to correctly decipher laboratory test names and their preferences for laboratory test names and result displays.</p><p><strong>Objective.—: </strong>To confirm principles for laboratory test nomenclature and display and to compare and contrast the abilities and preferences of different provider groups for laboratory test names.</p><p><strong>Design.—: </strong>Health care providers across different specialties and perspectives completed a survey of 38 questions, which included participant demographics, real-life examples of poorly named laboratory orders that they were asked to decipher, an assessment of vitamin D test name knowledge, their preferences for ideal names for tests, and their preferred display for test results. Participants were grouped and compared by profession, level of training, and the presence or absence of specialization in informatics and/or laboratory medicine.</p><p><strong>Results.—: </strong>Participants struggled with poorly named tests, especially with less commonly ordered tests. Participants' knowledge of vitamin D analyte names was poor and consistent with prior published studies. The most commonly selected ideal names correlated positively with the percentage of the authors' previously developed naming rules (R = 0.54, P < .001). There was strong consensus across groups for the best result display.</p><p><strong>Conclusions.—: </strong>Poorly named laboratory tests are a significant source of provider confusion, and tests that are named according to the authors' naming rules as outlined in this article have the potential to improve test ordering and correct interpretation of results. Consensus among provider groups indicates that a single yet clear naming strategy for laboratory tests is achievable.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9757182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Review of Laboratory Practices Using the HLA-B27 Survey by the College of American Pathologists: How Important Is Allele-Level Typing?","authors":"Jeremy Ryan Andrew Peña, Mark K Fung, Manish J Gandhi","doi":"10.5858/arpa.2022-0322-CP","DOIUrl":"10.5858/arpa.2022-0322-CP","url":null,"abstract":"<p><strong>Context.—: </strong>Ankylosing spondylitis (AS) is an autoimmune disorder with a strong genetic risk, especially with HLA-B27. Clinical testing for HLA-B27 has been used to help diagnose patients with signs and symptoms of AS. Testing methods used by clinical laboratories for HLA-B27 fall into the broad categories of serologic/antibody- or molecular-based methods and have evolved over time. The College of American Pathologists (CAP) offers a proficiency testing survey for HLA-B27.</p><p><strong>Objective.—: </strong>To analyze HLA-B27 testing trends and their performance in the past decade, using the proficiency testing survey data submitted to CAP.</p><p><strong>Design.—: </strong>We analyzed the HLA-B27 CAP proficiency testing data from 2010 to 2020 for the method used, participant concordance, and error rates. Results from case scenarios to understand evolving scientific data around HLA-B27 risk alleles were also analyzed.</p><p><strong>Results.—: </strong>Antibody-based flow cytometry is the most common method, though it has decreased from 60% in 2010 to 52% in 2020, with a corresponding increase in molecular methods. Among the molecular methods, real-time polymerase chain reaction has increased from 2% to 15%. Flow cytometry had the highest error rate (5.33%), and sequence-specific oligonucleotide (0%) is the most accurate (0%). Results of case scenarios demonstrated that most participants understood that allele-level HLA-B27 typing results inform clinical interpretation, for example HLA-B*27:06 is not associated with AS.</p><p><strong>Conclusions.—: </strong>These data demonstrated the changing trends for HLA-B27 testing during the past decade. HLA-B27 allelic typing provides a better understanding of AS association. This is possible by testing for the second field with methods like next-generation sequencing.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9757183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations.","authors":"Kristine M Cornejo, Lloyd Hutchinson, Patrick O'Donnell, Xiuling Meng, Keith Tomaszewicz, Sara C Shalin, David S Cassarino, May P Chan, Timothy R Quinn, Paul B Googe, Rosalynn M Nazarian","doi":"10.5858/arpa.2022-0474-OA","DOIUrl":"10.5858/arpa.2022-0474-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Syringocystadenocarcinoma papilliferum (SCACP) is a rare adnexal carcinoma and the malignant counterpart of syringocystadenoma papilliferum (SCAP), which is commonly located on the head and neck and may arise in association with a nevus sebaceus. RAS mutations have been identified in both SCAP and nevus sebaceus.</p><p><strong>Objective.—: </strong>To evaluate the clinicopathologic and molecular features of SCACPs, which have not been previously explored.</p><p><strong>Design.—: </strong>We obtained 11 SCACPs from 6 institutions and reviewed the clinicopathologic features. We also performed molecular profiling using next-generation sequencing.</p><p><strong>Results.—: </strong>The cohort comprised 6 women and 5 men with ages ranging from 29 to 96 years (mean, 73.6 years). The neoplasms occurred on the head and neck (n = 8; 73%) and extremities (n = 3; 27%). Three tumors possibly arose in a nevus sebaceus. A total of 4 cases showed at least carcinoma in situ (adenocarcinoma, n = 3; squamous cell carcinoma [SCC], n = 1), and 7 cases were invasive (SCC, n = 5; mixed adenocarcinoma + SCC, n = 2). A total of 8 of 11 cases (73%) had hot spot mutations consisting of HRAS (n = 4), KRAS (n = 1), BRAF (n = 1), TP53 (n = 4), ATM (n = 2), FLT3 (n = 1), CDKN2A (n = 1), and PTEN (n = 1). All 4 cases with HRAS mutations occurred on the head and neck, whereas the KRAS mutation occurred on the extremity.</p><p><strong>Conclusions.—: </strong>RAS-activating mutations were detected in 50% of the cases, of which most (80%) involved HRAS and occurred on the head and neck, which shows overlapping features with SCAP, supporting that a subset may arise as a result of malignant transformation and likely an early oncogenic event.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9383809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}