Journal of Cutaneous Pathology最新文献

{"title":"Diffuse PRAME Expression in Transdifferentiated Melanomas","authors":"Shaymaa Hegazy, Arivarasan Karunamurthy, Ivy John","doi":"10.1111/cup.14769","DOIUrl":"10.1111/cup.14769","url":null,"abstract":"<p>Dedifferentiated melanoma is defined by the absence of typical histopathologic and immunophenotypic features associated with melanoma. Much like dedifferentiated liposarcomas and malignant peripheral nerve sheath tumors, dedifferentiated melanomas exhibit a propensity for heterologous transdifferentiation, showcasing a spectrum of phenotypes including rhabdomyosarcomatous-like, fibroblastic/myofibroblastic-like, adenocarcinoma-like, leiomyosarcoma-like, schwannian and perineural-like, teratocarcinosarcoma-like, and chondrosarcomatous-like [<span>1, 2</span>]. Accurate diagnosis of dedifferentiated melanoma demands a high level of suspicion and comprehensive sampling to identify either a conventional melanoma precursor or mutations consistent with melanoma, such as <i>BRAF, NRAS, or NF1</i> [<span>1, 3</span>]. In recent years, immunohistochemistry focusing on PRAME (preferentially expressed in melanoma) has emerged as a valuable diagnostic tool for melanocytic tumors. The vast majority of primary and metastatic cutaneous melanomas express PRAME, though exceptions may arise, particularly in desmoplastic melanomas [<span>4</span>]. Rare, isolated case reports and a recent single study have reported strong and diffuse PRAME expression in dedifferentiated melanomas; however, its expression in transdifferentiated melanomas remains underexplored [<span>5-8</span>]. Herein, we present the findings of PRAME expression in three cases of transdifferentiated melanomas.</p><p>Received in consultation is a 15-cm groin mass with an outside diagnosis of high-grade malignant neoplasm with chondrosarcomatous differentiation with a suggested differential diagnosis of dedifferentiated chondrosarcoma and chondroblastic osteosarcoma. The submitted sections showed morphological features reminiscent of dedifferentiated chondrosarcoma with an abrupt transition between conventional hyaline cartilage and malignant sarcomatoid neoplasm (Figure 1a). Further history revealed the patient's documented <i>BRAF V600E</i> mutated malignant melanoma originating from the left thigh, with biopsy-proven lymph node metastasis to the neck. Although conventional melanocytic markers were negative in the current specimen, immunohistochemical staining for PRAME revealed diffuse and strong nuclear expression in the sarcomatoid component (Figure 1b). Additionally, BRAF immunohistochemistry confirmed positivity in the tumor cells (Figure 1c). Molecular studies were performed comparing the current specimen (left groin mass) and metastatic melanoma to the neck and showed identical mutations involving <i>BRAF, TERT, and TP53</i> in both components, confirming that both tumors are clonally related. Therefore, a diagnosis of dedifferentiated melanoma with chondrosarcomatous differentiation was rendered.</p><p>As part of ongoing patient care, histologic slides from a cutaneous rhabdomyosarcoma involving the forearm were received for review. Histopathologic examination showed a well-circumscribed","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"269-271"},"PeriodicalIF":1.6,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14769","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769411","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":"Chronic Leg Ulcerations and Subcutaneous Panniculitis due to Dermal Herpes Zoster in an Immunosuppressed Woman","authors":"Yasir Al-Dojaily,&nbsp;Wilson Omesiete,&nbsp;R. Hal Flowers,&nbsp;Sarah E. Gradecki,&nbsp;Olivia V. Lim","doi":"10.1111/cup.14767","DOIUrl":"10.1111/cup.14767","url":null,"abstract":"<div>\u0000 \u0000 <p>Herpes zoster (HZ) is a cutaneous viral disease that typically presents with a dermatomal vesicular eruption. Immunosuppressed patients are more likely to have atypical HZ involving chronic ulceration and disseminated distribution, making diagnosis a challenge. The current report describes a unique case of HZ in a woman with systemic lupus on immunosuppressive therapy manifesting as persistent lower extremity ulceration with diffuse dermal and endothelial infection and secondary panniculitis without epidermal involvement. Other potential etiologies were thoroughly excluded. The ulceration successfully responded to several weeks of valacyclovir. Recognizing atypical clinicopathologic manifestations of HZ in the setting of immune compromise is critical to accurate diagnosis and prompt therapy.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 2","pages":"113-117"},"PeriodicalIF":1.6,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769410","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":"VEXAS Syndrome: Histiocytoid Cells With Feathery Cytoplasm as a Clue to the Diagnosis","authors":"Christine J. Ko,&nbsp;Ian Odell,&nbsp;Jeffrey R. Gehlhausen,&nbsp;Jonathan Leventhal,&nbsp;Jennifer M. McNiff,&nbsp;Amanda Zubek","doi":"10.1111/cup.14757","DOIUrl":"10.1111/cup.14757","url":null,"abstract":"<div>\u0000 \u0000 <p>VEXAS (<b>V</b>acuoles, <b>E</b>1-ubiquitin activating enzyme <i>UBA1</i> variant, <b>X</b>-linked, <b>A</b>utoinflammatory, <b>S</b>omatic) syndrome was initially described as having mature neutrophil-predominant infiltrates. More recent reports suggest that infiltrates can be composed of variable cell types. We report three cases of VEXAS syndrome with seven total biopsies having in common histiocytoid cells with feathery cytoplasm; these cells may be a potential clue to the diagnosis.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 2","pages":"108-112"},"PeriodicalIF":1.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750453","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":"Colloid Bodies in Cutaneous Basal Cell Carcinoma: Clinical and Histologic Correlates-An Analysis of 405 Cases.","authors":"Ruben Oganesyan, Steven R Tahan","doi":"10.1111/cup.14755","DOIUrl":"https://doi.org/10.1111/cup.14755","url":null,"abstract":"<p><strong>Background: </strong>Colloid bodies (CB), also known as Civatte bodies, are commonly seen in inflammatory dermatoses and are thought to represent cell degeneration. No studies have investigated the incidence and clinical associations of CB in cutaneous basal cell carcinoma (BCC). The aim of this study is to assess the incidence of CB in BCC lesions and analyze their clinical associations.</p><p><strong>Methods: </strong>Four hundred and five sequential cases of cutaneous BCC from 396 patients diagnosed from 1/1/2023 to 12/31/2023 in our institution were studied for the presence of CB. Only cases of BCC with a single growth pattern were included. BCC subtype, patient age, location of the lesion, history of previous BCC at other site, smoking history, and allergy history were collected. Cases with and without CB were compared for each parameter using the paired t-test for age and the Chi-square test for categorical data.</p><p><strong>Results: </strong>Patients were grouped based on the presence of CB into a study group (57 cases) and control group with no CB (348 cases). CB were identified in 14% (57/405) of BCCs. 19% (54/281) of nodular, 12.5% (1/8) of infiltrative, and 1.7% (2/116) of superficial type BCCs had CB. BCC with CB were more common on the face/scalp than other sites (66.7% vs. 34.2%, p < 0.001). Patients with CB were older (median 72 vs. 68 years ±12, p = 0.04), predominantly male (63% vs. 47%, p = 0.02), more frequently had a prior BCC (0.61% vs. 0.38%, p = 0.012), and did not differ in smoking history compared to the control cohort.</p><p><strong>Conclusions: </strong>We identified CB in 14% of BCCs studied, most commonly in nodular, followed by infiltrative, and least often superficial type. After cohort matching, significant clinical associations of CB in BCC were sun-exposed location and personal history of one or more prior BCC at other site(s). Their pathogenesis is not known, however their presence suggests tumor regression, which may potentially be exploited for new therapies in a subset of patients.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750450","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":"Angiosarcoma of the Scalp Mimicking an Inflammatory Scarring Alopecia and Diagnosed on Horizontal Histologic Sections","authors":"Divya M. Shan,&nbsp;Mary-Margaret B. Noland,&nbsp;Julio A. Diaz-Perez,&nbsp;Sosipatros A. Boikos,&nbsp;Mark C. Mochel","doi":"10.1111/cup.14766","DOIUrl":"10.1111/cup.14766","url":null,"abstract":"<p>While most forms of alopecia neoplastica are attributable to cutaneous metastases from visceral primary malignancies, rarely a diffuse primary skin cancer may present as alopecia. Herein, we present a case of angiosarcoma which clinically mimicked an inflammatory alopecia and was diagnosed by examination of alopecia-protocol horizontal histologic sections. A 72-year-old female presented to her dermatologist with a chief complaint of hair loss and pruritus. She was noted to have alopecia with erythema of the scalp and was diagnosed clinically with lichen planopilaris. However, when multiple topical treatments were unsuccessful, her dermatologist performed a scalp biopsy to guide further alopecia therapy. Horizontally oriented histologic sections were prepared from the biopsy in standard alopecia fashion. Histopathologic examination revealed a proliferation of dissecting vascular channels lined by atypical endothelial cells, diagnostic of angiosarcoma. The patient underwent radiation and chemotherapy with clinical response and had stable disease for several years thereafter. This case highlights the importance of considering unexpected malignancies in the clinical and pathologic examination of cases of suspected inflammatory alopecia.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 2","pages":"104-107"},"PeriodicalIF":1.6,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11710897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739601","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":"The Spectrum of Cutaneous Granulomatous Inflammation and Detection of Rubella Virus in Skin Biopsies of Patients With Common Variable Immune Deficiency","authors":"Anne L. King,&nbsp;Emma F. Johnson,&nbsp;Afsaneh Alavi,&nbsp;Shruti Agrawal,&nbsp;Olayemi Sokumbi,&nbsp;Ludmila Perelygina,&nbsp;Laura Yorke,&nbsp;Suzanne Beard,&nbsp;Carilyn N. Wieland","doi":"10.1111/cup.14761","DOIUrl":"10.1111/cup.14761","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is a known association between common variable immunodeficiency (CVID) and granulomas in multiple organ systems, including the skin, lung, liver, and spleen. Rubella virus has also been detected within cutaneous granulomas in both immunocompetent and immunocompromised hosts. We present a retrospective case series of patients with CVID and granulomatous skin disease and describe the spectrum of clinical and histopathologic features, including the status of rubella virus in the cutaneous granulomas.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively reviewed the clinical and histopathological characteristics of patients diagnosed with CVID at our institution, with cutaneous findings and skin biopsies available for review between 1990 and 2023, demonstrating granulomatous inflammation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eight patients met the inclusion criteria. The most common histopathologic pattern was palisaded granulomatous inflammation, seen in five of eight cases. Three cases showed strictly sarcoidal granulomas. Background inflammation was peri-granulomatous (8/8) and the predominant background inflammatory cell type was lymphocytic (6/8). Rubella virus testing was performed for seven of eight cases and found to be positive in one case.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Cutaneous granulomatous disease in CVID can present with a spectrum of clinical morphologies, granulomatous patterns, and variable rubella virus persistence. Dermatopathologists should be aware of the spectrum of findings when considering cutaneous CVID–related granulomatous disease in the differential diagnosis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"220-226"},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716276","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":"Evaluation of Heterogeneity in the Coding Region of BRAF, MAP2K1, and MAP2K2 Genes in Primary and Metastatic Melanomas.","authors":"Mariana Fernandes, Denise Barcelos, Fernando Cintra Lopes Carapeto, Leonardo Cardili, Andreia Neves Comodo, Susana Fares Mazloum, Maryana Mara Marins, Agatha Ribeiro Mendes, João Bosco Pesquero, Gilles Landman","doi":"10.1111/cup.14738","DOIUrl":"https://doi.org/10.1111/cup.14738","url":null,"abstract":"<p><strong>Introduction: </strong>The incidence of melanoma has been increasing in recent decades. BRAF mutations appear in 50%-70% of melanomas. The BRAF-targeted therapy increased the disease-free survival of patients with metastatic melanoma, but this response may be short, due to several resistance mechanisms, such as the presence of other subclones with mutations. Evaluation of mutations and heterogeneity in the coding region of the BRAF, MAP2K1, and MAP2K2 genes in primary and metastatic melanomas.</p><p><strong>Patients and methods: </strong>Twenty-seven samples of primary and metastatic superficial spreading melanoma (SSM) and acral lentiginous melanoma (ALM) were analyzed for BRAF, MAP2K1, and MAP2K2 mutations using the next-generation sequencing technique.</p><p><strong>Results: </strong>In ALM, the mutation rate found was 50% in the BRAF and MAP2K1 genes and 28.6% in MAP2K2. In the SSM, BRAF was mutated in 76.9%, MAP2K1 in 30.8%, and MAP2K2 in 23.2% of the cases. All samples were formed by distinct tumor subclones in the same lesion. Intertumoral heterogeneity was present between primary and metastatic lesions of ALM in BRAF, MAP2K1, and MAP2K2; the cases of SSM were heterogeneous for BRAF and MAP2K1.</p><p><strong>Conclusion: </strong>We sought to evaluate the mutations in the BRAF, MAP2K1, and MAP2K2 genes, revealing a heterogeneous mutation profile in samples of ALM and SSM.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716275","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":"Cutaneous Facial Nodule: A Presenting Sign of Metastatic Pulmonary Enteric Adenocarcinoma","authors":"Sarah K. Zemlok,&nbsp;Neelesh Jain,&nbsp;Brett Sloan,&nbsp;Campbell L. Stewart","doi":"10.1111/cup.14759","DOIUrl":"10.1111/cup.14759","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 2","pages":"99-103"},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716346","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. Role in MGH Pigmented Lesion Clinic-50 Years Ago (1973).","authors":"Arthur J Sober","doi":"10.1111/cup.14754","DOIUrl":"https://doi.org/10.1111/cup.14754","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710172","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":"Study of Microsatellite Instability by Immunohistochemistry in a Cohort of Patients With Melanoma","authors":"Rodolfo David Palacios Diaz,&nbsp;Blanca de Unamuno Bustos,&nbsp;Mónica Pozuelo Ruiz,&nbsp;Margarita Llavador Ros,&nbsp;Sarai Palanca Suela,&nbsp;Rafael Botella Estrada","doi":"10.1111/cup.14758","DOIUrl":"10.1111/cup.14758","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Microsatellite instability (MSI) has prognostic value and impacts therapy strategies in several malignancies. Data regarding MSI in melanoma are scarce. The aim of this study was to assess MSI through the analysis of MMR protein expression in patients with melanoma.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An observational retrospective single-center study was designed based on patients with primary melanoma. We assessed MSI through immunohistochemical staining with anti-MLH1, anti-MSH2, anti-MSH6, and anti-PMS2 on full–thickness excision tissue.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-three patients were included in this study. The complete absence of nuclear staining in tumoral cells was extremely rare, with only one melanoma not expressing MSH6. Most melanomas showed an expression index for MLH1 (77.7%), MSH2 (87.2%), and PMS2 (78.6%) ≥ 75%. Most melanomas (57.8%) exhibited an MSH6 expression index in the range of 1%–74%. A low MSH6 expression index and a reduced combined MMR protein expression index (MMR-e) were significantly associated with higher melanoma-specific survival. A mild PMS2 staining intensity was significantly associated with a higher melanoma-specific survival. The patients with high MMR-e who received immunotherapy progressed and died more frequently than those with reduced MMR-e (75% vs. 33.3%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>More studies are needed to further define the role of MSI in melanoma prognosis and response to immunotherapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 2","pages":"162-171"},"PeriodicalIF":1.6,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710175","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}