Journal of Cutaneous Pathology最新文献

{"title":"Genomic and Transcriptomic Profiling of Digital Papillary Adenocarcinomas Reveals Alterations in Matrix Remodeling and Metabolic Genes","authors":"Erol Can Bayraktar,&nbsp;Phyu P. Aung,&nbsp;Pavandeep Gill,&nbsp;Guomiao Shen,&nbsp;Varshini Vasudevaraja,&nbsp;Zongshan Lai,&nbsp;Luis Chiriboga,&nbsp;Doina Ivan,&nbsp;Priyadharsini Nagarajan,&nbsp;Jonathan L. Curry,&nbsp;Carlos A. Torres-Cabala,&nbsp;Victor G. Prieto,&nbsp;George Jour","doi":"10.1111/cup.14782","DOIUrl":"10.1111/cup.14782","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Digital papillary adenocarcinoma (DPAC) is a rare but aggressive cutaneous malignant sweat gland neoplasm that occurs on acral sites. Despite its clinical significance, the cellular and genetic characteristics of DPAC remain incompletely understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a comprehensive genomic and transcriptomic analysis of DPAC (<i>n</i> = 14) using targeted next-generation DNA and RNA sequencing, along with gene expression profiling employing the Nanostring Technologies nCounter IO 360 Panel. Gene expression in DPAC was compared to that in hidradenoma (<i>n</i> = 10). Immunohistochemistry was employed to validate gene expression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two out of eight DPACs showed fusion gene rearrangements (<i>CRTC3</i>::<i>MAML2</i> and <i>TRPS1</i>::<i>PLAG1</i>). No uniform mutational signature was detected in DPAC. Comparative gene expression analysis revealed an enrichment of genes related to matrix remodeling, metabolism, and DNA damage repair. Hallmark pathway analysis demonstrated significant upregulation of E2F target genes in DPAC compared to hidradenoma (<i>p =</i> 0.00710). Human papillomavirus-42 was found to be positive in all of our tested DPAC cases. Immunohistochemistry confirmed increased protein expression of CD56, CDC20, and SOX10 in DPAC. Notably, most DPAC tumors also exhibited B-cell infiltration, as indicated by CD20 staining.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings reveal novel fusions and validate altered replication pathways related to HPV42 in DPAC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"309-316"},"PeriodicalIF":1.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932023","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":"Pseudocellulitis in the Setting of Pemetrexed Treatment for Non-Small Cell Lung Cancer","authors":"Cassidy M. Nguyen,&nbsp;Jake C. Robertson,&nbsp;Adam Cardenas,&nbsp;Edgar Martinez,&nbsp;Brett H. Keeling,&nbsp;Khang D. Nguyen","doi":"10.1111/cup.14785","DOIUrl":"10.1111/cup.14785","url":null,"abstract":"<div>\u0000 \u0000 <p>Pemetrexed is a chemotherapeutic, antimetabolite agent that has been used in oncology to treat diseases such as metastatic non-small cell lung cancer and unresectable malignant pleural mesothelioma. Pemetrexed use may result in pseudocellulitis, which presents as poorly demarcated patches or plaques with erythema, edema, warmth, and tenderness. These lesions can present unilaterally or bilaterally on the lower extremities. The histologic appearance includes vacuolar interface dermatitis, squamous metaplasia of eccrine coils and ducts, sparse mixed neutrophilic and lymphocytic interstitial inflammatory infiltrate, and widened subcutaneous fibrous septa with cystic fat degeneration. We present the case of a 58-year-old woman with non-small cell lung cancer and pemetrexed-induced pseudocellulitis with distinctive histological features. The clinical appearance of patients with this hypersensitivity condition may mimic cellulitis, emphasizing the importance of increased awareness and consideration of pseudocellulitis in the differential diagnosis of patients on chemotherapy to avoid unnecessary hospitalization and treatment.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"284-286"},"PeriodicalIF":1.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927249","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 of Acral Skin Biopsies in Dermatomyositis Patients and Comparison to Histopathologic Features in Non-Acral Biopsies","authors":"Lydia Cassard,&nbsp;Firdous Ali,&nbsp;Elizabeth M. Flatley,&nbsp;Anthony Patrick Fernandez","doi":"10.1111/cup.14786","DOIUrl":"10.1111/cup.14786","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Acral lesions may represent the best/only skin lesions to biopsy in patients suspected to have dermatomyositis (DM). However, histopathologic features of acral DM skin lesions are poorly characterized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We reviewed 50 acral biopsies from 46 DM patients and assessed numerous histopathologic features. The majority of biopsies (42/50; 84%) were sampled from either Gottron papules or signs. We compared histopathologic features in acral biopsies to those in 197 non-acral DM skin biopsies. We also compared histopathologic features in acral biopsies based on the presence of various clinical features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Interface dermatitis, dyskeratotic keratinocytes, and superficial perivascular inflammation were common in DM acral biopsies. However, the absence of &gt; 1 hallmark histopathologic feature (interface dermatitis, dyskeratosis, dermal mucin) was relatively common (56%). The presence of all three hallmark histopathologic features was significantly more likely in non-acral compared with acral DM biopsies (68% vs. 44%; <i>p</i> = 0.0021). The hallmark histopathologic feature most commonly lacking in acral compared with non-acral biopsies was increased dermal mucin. Histopathologic features in acral biopsies did not significantly differ based on acral location, DM subtype, therapeutic regimen, or myositis-associated/myositis-specific antibody status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Pathologists should recognize that acral biopsies in DM patients may lack hallmark histopathologic features commonly seen in biopsies from non-acral locations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"299-308"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927245","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":"Neutrophilic Panniculitis Secondary to BRAF and MEK Inhibitor Therapy to Treat Stage IIIa Cutaneous Melanoma","authors":"Tyra Reed,&nbsp;Steven Rivera,&nbsp;Craig Fisher,&nbsp;William Schaffenburg","doi":"10.1111/cup.14778","DOIUrl":"10.1111/cup.14778","url":null,"abstract":"<div>\u0000 \u0000 <p>Panniculitides are a group of inflammatory disorders of the subcutaneous fat that have been reported as a rare complication of both a serine threonine kinase BRAF inhibitor monotherapy and BRAF inhibition in combination with a mitogen activated protein kinase (MEK) inhibitor combination therapy used to treat metastatic melanoma. The cutaneous manifestations of BRAF and BRAF/MEK therapies have been well documented, but neutrophilic panniculitis remains a less common complication with fewer case reports. Physician awareness of this complication when following patients on similar targeted therapies can decrease delays in appropriate management. We report a case of one patient who developed neutrophilic panniculitis during treatment with the BRAF/MEK combination of dabrafenib and trametinib. We followed the patient from initial presentation in the emergency department to diagnosis to include pathology findings of the disease. In this case of neutrophilic panniculitis, the patient presented with a history of stage IIIa (pT2a N1a M0) cutaneous melanoma of the right flank and developed classic painful nodules on the lower legs and arms with associated fever within the first 2 weeks after initiating adjuvant melanoma targeted therapy. The biopsies showed a mixed, neutrophilic panniculitis, without overlying epidermal changes. Given the patient's clinical history, the biopsy was consistent with a BRAF inhibitor induced neutrophilic panniculitis. The panniculitis resolved with symptomatic care and the patient was maintained on the antitumor therapies.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"278-283"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927247","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":"A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases","authors":"Meredith C. Rogers,&nbsp;Mark Ash,&nbsp;Amanda Hernandez,&nbsp;Gregory A. Hosler","doi":"10.1111/cup.14774","DOIUrl":"10.1111/cup.14774","url":null,"abstract":"<p>The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system. We present a case of a patient with hidradenitis suppurativa and porokeratosis, two AIKDs, followed by a review of these conditions as well as other AIKDs. This case was distinguished by hypertrophic porokeratoses involving cystic hair follicles, showing histopathologic features of both conditions within single biopsy specimens. The patient's course was additionally complicated by SCC arising within a porokeratosis. Our case demonstrates a rare overlap of two AIKDs, occurring not only within the same patient but also within the same lesions.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"272-277"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14774","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921829","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":"Granuloma Annulare Arising in a Becker Nevus","authors":"Adam H. Krouse,&nbsp;Brandon Zelman,&nbsp;Jenna J. Lullo,&nbsp;Jodi J. Speiser","doi":"10.1111/cup.14784","DOIUrl":"10.1111/cup.14784","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"339-341"},"PeriodicalIF":1.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927210","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 Diagnostic Utility of PRAME in Primary Cutaneous Dedifferentiated and Transdifferentiated Melanomas","authors":"Audrey Choy,&nbsp;Alex Wang,&nbsp;Ganesha K. Thayaparan,&nbsp;Luke Beaumont,&nbsp;Richard Williams,&nbsp;Sara Diab,&nbsp;George Tzaikou,&nbsp;Ayesha Ajmal,&nbsp;Alexander Nirenberg","doi":"10.1111/cup.14783","DOIUrl":"10.1111/cup.14783","url":null,"abstract":"<div>\u0000 \u0000 <p>Melanomas show a wide spectrum of clinical, morphological, immunohistochemical, and molecular features, which can impact treatment and prognosis. Dedifferentiated and transdifferentiated melanomas (DTM) are defined as melanomas which have lost conventional melanocytic morphologic and immunohistochemical features, showing sarcomatous morphology and/or immunohistochemical staining of other cell lineages, and as such, can be mistaken for other entities such as collision tumors and undifferentiated spindle cell tumors. In this series, we highlight the utility of preferentially expressed antigen in melanomas (PRAME) in diagnosing undifferentiated/dedifferentiated melanomas. Case 1 is a lentigo maligna melanoma with dedifferentiation on the scalp of an 85-year-old. Case 2 is a desmoplastic melanoma with leiomyosarcomatous transdifferentiation on the cheek of an 80-year-old. Case 3 is a desmoplastic melanoma with rhabdomyosarcomatous transdifferentiation arising from the temple of an 88-year-old. In all cases, conventional melanocytic immunohistochemical markers were positive in the conventional melanoma and negative in the dedifferentiated/transdifferentiated areas. However, PRAME was positive in both the conventional and dedifferentiated areas with varying intensity. Although PRAME immunoreactivity can be seen in other malignant spindle cell tumors, this study highlights the potential utility of PRAME immunohistochemistry when considering a diagnosis of DTM.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"212-219"},"PeriodicalIF":1.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921831","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":"Rethinking the Semantics of “Cutaneous Squamous Cell Carcinoma In Situ”","authors":"Muhammad H. Junejo,&nbsp;Catherine A. Harwood,&nbsp;Christine J. Ko","doi":"10.1111/cup.14780","DOIUrl":"10.1111/cup.14780","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 5","pages":"336-338"},"PeriodicalIF":1.6,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909741","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":"Dermal CIC-Rearranged Sarcoma With Neuroendocrine Differentiation Mimicking Merkel Cell Carcinoma","authors":"Timothy Freeman,&nbsp;Kelsey Wilson,&nbsp;Kristopher McKay","doi":"10.1111/cup.14781","DOIUrl":"10.1111/cup.14781","url":null,"abstract":"<div>\u0000 \u0000 <p>Capicua transcriptional repressor (CIC)-rearranged sarcoma (CRS) is a rare and recently described tumor that most commonly affects patients between 15 and 30 years of age. It is an undifferentiated round cell malignancy, with a disease defining CIC fusion, with double homeobox 4 (<i>DUX4</i>) being the most common partner. Here, we report a 77-year-old woman who presented with a cutaneous thigh mass with a clinical morphology suggesting Merkel cell carcinoma. Immunohistochemically, there was positivity for INSM1 (extensive) and synaptophysin (patchy) and granular expression of neurofilament (extensive), CAM5.2, and CK20 (focal, nonspecific). The majority of the tumor showed histopathologic features within the range of what can be seen in Merkel cell carcinoma, but there were divergent features, including a myxoid zone with corded and stranded tumor cells and a Ewing-sarcoma-like zone with confluent concentric membranous CD99 expression. WT-1 was strongly expressed, prompting RNA-based next generation sequencing for gene fusions, which identified the CIC:DUX4 [t(19;4)(19q13.2;4q35.2)]. A novel IRAK3:HMGA2 fusion was also identified. This example of CRS simulated MCC clinically, histopathologically, and immunohistochemically and represents a likely underrecognized diagnostic pitfall.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"206-211"},"PeriodicalIF":1.6,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906726","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":"Fatal Spitz Melanoma With MAD1L1::BRAF Fusion: A Case Report and Literature Review","authors":"Tsubasa Hiraki,&nbsp;Satoshi Hirakawa,&nbsp;Yoshiro Otsuki,&nbsp;Kazuyoshi Kajimoto,&nbsp;Keisuke Goto,&nbsp;Masakuni Serizawa","doi":"10.1111/cup.14779","DOIUrl":"10.1111/cup.14779","url":null,"abstract":"<div>\u0000 \u0000 <p>Spitz melanoma is extremely rare, and only a few cases of distant metastases have been reported. Herein, we describe a case of Spitz melanoma with multiple distant metastases. A 37-year-old woman presented with a 5.5-mm-diameter nodule on the right lower leg. She experienced multiple distant metastases, involving the lungs, liver, thyroid, stomach, ovary, bones, and skin, along with multiple lymph node metastases within 1 year. The patient succumbed to the disease 1 year and 6 months following the first excision. Histopathological examination revealed a dense distribution of large solid nests comprising large, atypical epithelioid melanocytes with abundant eosinophilic cytoplasm in the upper dermis. Diffuse PRAME and loss of p16 immunoexpression profiles were observed. Targeted DNA and Sanger sequencing revealed an in-frame <i>MAD1L1</i>(e16)<i>::BRAF</i>(e9) fusion in both primary tumor and metastatic subcutaneous lesion. A review of previously reported cases confirmed as Spitz melanoma with distant metastases (<i>n</i> = 7) revealed a broad age range (11–71 years, median 46 years), high mortality (5/7), frequent <i>BRAF</i> fusions (6/7), and recurrent <i>TERT</i> promotor mutations and <i>CDKN2A/B</i> deletions. This report adds valuable insights into our understanding of the clinical and genetic characteristics of Spitz melanoma with distant metastases.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 3","pages":"199-205"},"PeriodicalIF":1.6,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894916","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}