Journal of Cutaneous Pathology最新文献

{"title":"Prominent tissue hemophagocytic lymphohistiocytosis obscuring primary cutaneous gamma/delta (γδ) T-cell lymphoma","authors":"Craig M. Fisher MD,&nbsp;Steven F. Capen MD,&nbsp;Justin P. Bandino MD,&nbsp;Allen R. Holmes MD,&nbsp;Christine M. Lee MD","doi":"10.1111/cup.14718","DOIUrl":"10.1111/cup.14718","url":null,"abstract":"<p>Primary cutaneous gamma/delta (γδ) T-cell lymphoma (PCGDTCL) is a rare, aggressive malignant neoplasm of γδ T lymphocytes arising within the skin and subcutis. We present a challenging case of PCGDTCL diagnosed in a 35-year-old male soldier who presented with constitutional symptoms, pancytopenia, hemophagocytic lymphohistiocytosis (HLH), disseminated lymphadenopathy, and cutaneous lesions on his extremities and back following a deployment to Iraq and Syria. Histopathologic evaluation of an excisional biopsy showed that PCGDTCL can be focal, localized to the subcutaneous adipose tissue, and obscured by predominant HLH in the surrounding tissues. Pathologists should recognize that the diagnosis of PCGDTCL may be confounded by florid HLH and require multiple biopsies and a comprehensive immunohistochemical panel.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"959-963"},"PeriodicalIF":1.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of UV mutational signatures to distinguish between cutaneous and pulmonary primary squamous cell carcinoma.","authors":"Jeffrey S Ross, Dean Pavlick, Julie Y Tse, Erik A Williams, Ethan S Sokol, Richard S P Huang, Rami Al-Rohil, David M Jones, Devashish Desai, Stephen Graziano, Alina Basnet","doi":"10.1111/cup.14713","DOIUrl":"https://doi.org/10.1111/cup.14713","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Squamous cell carcinoma (SCC) of presumed lung origin (PLO) is now the second most frequent histologic subtype of non-small cell carcinoma after adenocarcinoma. The use of clinic-genomic correlation provided by comprehensive genomic profiling (CGP) can revise clinicopathologic diagnoses of presumed primary lung SCC (PLO-SCC) to diagnoses of metastatic SCC of cutaneous origin (C-SCC).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;A total of 10 146 samples of clinically advanced PLO-SCC (84% known Stage IV) passed QC metrics and were designated as PLO-SCCs by review of test requisition forms, clinical notes, and pathology reports. One thousand seven hundred sixty-one cases of known primary C-SCC were also included in this study. All samples underwent hybrid capture-based CGP (Foundation Medicine, Inc.) using a targeted gene panel to evaluate all classes of genomic alterations (GA), determine MSI, TMB, and genomic ancestry status. The mutational signature (MS) of each case was called by the decomposition method using reference signatures in the COSMIC database. PD-L1 tumor cell expression was determined by IHC (22C3; Dako). All results were compared using the Fisher exact method with the false discovery rate corrected with a Benjamini-Hochberg adjustment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 253 of 10 146 (2.5%) PLO-SCC cases featured a UV+ MS; 812 of 1761 C-SCC (46.1%) that also featured a UV radiation exposure MS (UV+) were also included in this study. PLO-SCC UV+ cases used for sequencing included tissue samples from the lung (162), lymph node (34), soft tissue (33), liver (8), head and neck (7), brain (5), and skin thought to be metastatic sites from primary lung SCC (4). The PLO-SCC UV+ patients were 78.7% male and had a median age of 72 years, which was younger and more frequently male gender than both the C-SCC UV+ and C-SCC UV- patients (p &lt; 0.0001). Both the PLO-SCC UV+ and C-SCC UV+ featured greater GA per tumor than the PLO-SCC UV- cases (p &lt; 0.0001). In the PLO-SCC UV- cases, tobacco exposure and APOBEC were the most frequent MSs. For the biomarkers associated with immune checkpoint inhibitor efficacy, when compared with the PLO-SCC UV- cases, the PLO-SCC UV+ cases featured more cases with TMB ≥10 mutations/Mb (88.5% vs. 36.5%; p &lt; 0.0001) and ≥20 mutations/Mb (66.8% vs. 6.8%; p &lt; 0.0001) and a trend for less frequent positive PD-L1 (≥50% TPS) IHC staining (30.2% vs. 39.6%; p = 0.062). Compared to PLO-SCC UV- cases, PLO-SCC UV+ and C-SCC UV+ cases were more likely to harbor clinically-actionable GA in PTCH1 and NOTCH1/2 (p &lt; 0.0001) and less likely to harbor clinically-actionable GA in KRAS, PIK3CA, and PTEN (p &lt; 0.0001). The frequency of PTCH1 GA in PLO-SCC UV+ (32% vs. 0.9% in PLO-SCC UV-) suggested that PLO-SCC UV+ may include a mixture of C-SCC and cutaneous basal cell carcinomas (C-BCC) with squamous differentiation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;When cases of PLO-SCC undergo CGP, a small 2.5% subset of ","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series","authors":"Mashiro van Dal MD,&nbsp;Sanne R. Martens-de Kemp PhD,&nbsp;Antien L. Mooyaart MD, PhD,&nbsp;Walter Voogt BSc,&nbsp;Marlies Wakkee MD, PhD,&nbsp;Jeffrey Damman MD, PhD","doi":"10.1111/cup.14720","DOIUrl":"10.1111/cup.14720","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>One of the hereditary syndromes associated with multiple early-onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline <i>SUFU</i> mutations. Germline <i>SUFU</i> mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is one. Patients with MHIBCC develop multiple basaloid skin tumors from middle age onwards.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Three patients presenting with an MHIBCC phenotype were tested for a germline <i>SUFU</i> mutation. Skin biopsies were assessed by two dermatopathologists.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our study adds three new pathogenic <i>SUFU</i> variants, including a mosaic, to the current literature. Literature suggests a spectrum of phenotypes of patients carrying the same <i>SUFU</i> mutation, which ranges from the MHIBCC phenotype, to BCNS, to patients that develop life-threatening brain tumors. This last risk is significantly higher in germline <i>SUFU</i> mutation carriers when compared to BCNS patients carrying germline <i>PTCH1</i> mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Germline <i>SUFU</i> mutation carriers should be recognized as a distinct group of patients carrying specific health risks, independent of meeting the BCNS criteria. Phenotypic prediction based on the specific <i>SUFU</i> mutation seems unfeasible. It is of utmost importance that the less apparent MHIBCC phenotype is recognized, to provide (second generation) germline <i>SUFU</i> mutation carriers appropriate healthcare.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"980-986"},"PeriodicalIF":1.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14720","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human cutaneous pythiosis: A case report","authors":"Nutpeera Nutthapan,&nbsp;Wuttinee Sutichaiworapong,&nbsp;Yu-Hung Wu","doi":"10.1111/cup.14719","DOIUrl":"10.1111/cup.14719","url":null,"abstract":"<p>Human pythiosis is a rarely encountered yet potentially harmful infectious disease. It is mostly caused by <i>Pythium insidiosum</i>, an aquatic fungal-like organism, and primarily manifests in tropical locales such as India and Thailand. Cutaneous/subcutaneous pythiosis accounts for a small proportion of all clinical forms. The relationship between cutaneous pythiosis and hemoglobinopathy remains uncertain, unlike the vascular form. The histopathology of the disease demonstrates eosinophilic granulomatous inflammation and dense eosinophilic material enveloping the organism, known as the Splendore–Hoeppli phenomenon. These histopathologic characteristics resemble those observed in entomophthoromycosis. Until now, the histopathology of human cutaneous pythiosis has been scarcely delineated in the literature. Herein, we report a case of cutaneous pythiosis in an adult thalassemic agricultural worker who presented with a 2-month history of a progressive, painful, erythematous infiltrative plaque on the left leg. The definitive diagnosis was ascertained through histopathologic examination and the identification of anti-<i>P. insidiosum</i> antibodies in the serum utilizing enzyme-linked immunosorbent assay. This report demonstrates the exquisite histopathologic findings of a rare case of human cutaneous pythiosis.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"964-968"},"PeriodicalIF":1.6,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gram stain of skin tissue sections: The difficulty in establishing diagnostic standards for skin and soft tissue infections","authors":"Hiroshi Ito MD","doi":"10.1111/cup.14721","DOIUrl":"10.1111/cup.14721","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"969-970"},"PeriodicalIF":1.6,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histopathologic features in drug-induced, malignancy-associated, or idiopathic linear IgA bullous dermatosis: A retrospective comparative cohort study of 65 patients","authors":"Katherine L. Wang BS,&nbsp;Austin Todd MS,&nbsp;Dawn M. R. Davis MD,&nbsp;Julia S. Lehman MD","doi":"10.1111/cup.14714","DOIUrl":"10.1111/cup.14714","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"254-258"},"PeriodicalIF":1.6,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Martin C. Mihm Jr: Remembrances of a great physician, charismatic person, and good friend","authors":"Robert H. Young","doi":"10.1111/cup.14708","DOIUrl":"https://doi.org/10.1111/cup.14708","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"59 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142204331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ancillary immunohistochemistry testing for loss of p16 in melanoma: A systematic review and meta-analysis of diagnostic accuracy studies","authors":"Shruti S. Chinchanikar,&nbsp;Garth R. Fraga","doi":"10.1111/cup.14717","DOIUrl":"10.1111/cup.14717","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Ancillary immunohistochemistry testing for p16 loss has been proposed as a diagnostic tool for melanoma, but its accuracy remains uncertain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic review and meta-analysis were conducted on 26 studies involving 979 melanomas and 974 nevi.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Through bivariate analysis of data across all cut-off values, the sensitivity and specificity were calculated to be 0.55 (95% confidence interval [CI]: 0.38, 0.70) and 0.85 (95% CI: 0.70, 0.94), respectively. Summary estimates of diagnostic accuracy fell below recommended thresholds for effective tests, but subgroup analysis suggested that p16 loss could aid in diagnosing ambiguous lesions as melanoma in certain scenarios. However, the presence of p16 expression in these contexts does not definitively rule out melanoma. The findings were limited by underpowered exploratory study designs at risk for bias in patient selection and test interpretation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>While the use of p16 immunohistochemistry for detecting melanoma is not universally reliable, it may serve as a confirmatory test in differential diagnoses involving common, congenital, acral, Spitz, and deep penetrating nevi. Nevertheless, further studies are needed to validate its utility. Until then, the application of p16 immunohistochemistry in melanoma diagnosis should be regarded as experimental.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"971-979"},"PeriodicalIF":1.6,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142204332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutational profile of the KIT gene and its heterogeneity in primary and metastatic melanomas.","authors":"Jesús José André Quintana Castillo, Gilles Landman, Mariana Fernandes, Denise Barcelos","doi":"10.1111/cup.14715","DOIUrl":"https://doi.org/10.1111/cup.14715","url":null,"abstract":"<p><strong>Background: </strong>This study investigates the mutational profile of the KIT gene in primary and metastatic melanomas, highlighting the significance of genetic heterogeneity.</p><p><strong>Methods: </strong>This research is a retrospective cohort that includes formalin-fixed and paraffin-embedded melanoma samples obtained from Hospital São Paulo, Brazil, between the years of 1996 and 2010. The research encompasses primary melanomas of the superficial spreading (SSM) and acral lentiginous (AL) subtypes and their metastases, using next-generation sequencing to explore genetic heterogeneity.</p><p><strong>Results: </strong>Despite losing 57 samples due to quality issues, 27 samples from 20 patients were analyzed, revealing a nearly equal distribution between AL and SSM subtypes. Both histological subtypes revealed KIT gene variants, including previously undescribed variants and polymorphisms, emphasizing the role of such mutations in melanoma pathogenesis and the potential for targeted therapies. Tumor heterogeneity was also observed in both histological subtypes.</p><p><strong>Conclusions: </strong>The study underscores the complexity of melanoma, driven by diverse mutational landscapes within and across tumors and advocates for personalized treatment approaches based on detailed molecular profiling. Despite limitations like sample size, this research lays the groundwork for further investigation into melanoma's genetic intricacies and therapeutic vulnerabilities.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association of interleukin-36 staining intensity with histopathologic findings of eosinophil count and spongiosis in patients with psoriasis: A secondary analysis of a retrospective immunohistochemical and chart review pilot study","authors":"William R. Zhang,&nbsp;Tina Bhutani,&nbsp;Joshua M. Schulman,&nbsp;Jeffrey P. North","doi":"10.1111/cup.14711","DOIUrl":"10.1111/cup.14711","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"251-253"},"PeriodicalIF":1.6,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}