Journal of Cutaneous Pathology最新文献

{"title":"Spitz Spindle Cell/Reed Nevus With SQSTM1::NTRK2 Fusion and Atypical Features in an Older Male Patient: A Case Report and Review of Literature.","authors":"Federico Scarfò, Emanuela Brunetto, Gilda Magliacane, Lorenza Pecciarini, Gerardo Ferrara, Nathalie Rizzo","doi":"10.1111/cup.14798","DOIUrl":"https://doi.org/10.1111/cup.14798","url":null,"abstract":"<p><p>Spitz lesions display a set of genetic alterations that differ from classical melanocytic lesions: examples include mutations in HRAS and fusions involving ALK, ROS1, MET, MAP3K8, BRAF, and the NTRK genes. We present a Spitz spindle cell/Reed nevus with atypical junctional features and an NTRK2 translocation in a patient of unusual age. The patient was a 61-year-old man with a pigmented brown flat 6 mm lesion growing on the skin over the left scapula. The lesion was composed of spindled and epithelioid melanocytes and was arranged in nests with some scattered focal pagetoid cells as well as intraepidermal nests at the center of the lesion and occasional mitotic figures. The melanocytes showed diffuse staining for pan-Trk antibodies. p16 staining was focally and weakly positive. The cells showed staining for HMB-45, MART-1, and tyrosinase, whereas they were negative for PRAME, ALK-1, and ROS-1 immunostaining. BAP-1 was preserved. Next-generation sequencing detected a SQSTM1::NTRK2 fusion and showed no alterations of ALK, ROS1, RET, NTRK1, and NTRK3 genes, as well as no pathogenic variants of BRAF. Fluorescent in situ hybridization showed NTRK2 translocation in all melanocytes evaluated. This case presents a Spitz nevus with a rare translocation in an older patient.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468206","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":"Granulomatous Eccrine Hidradenitis. A New Histopathological Entity?","authors":"Göksu Yavuz, Mehtap Toprak, Ebru Zemheri, Burçe Can Kuru","doi":"10.1111/cup.14795","DOIUrl":"https://doi.org/10.1111/cup.14795","url":null,"abstract":"<p><p>The term \"hidradenitis\" designates diseases with inflammatory infiltrate around a sweat gland. Neutrophilic eccrine hidradenitis (NEH) is a reactive disorder usually induced by malignancy or chemotherapeutics, characterized by typically erythematous, edematous papules and plaques on the extremities, trunk, face, and palmar and plantar regions. In histopathology, dense neutrophilic infiltration around the eccrine gland can be seen. In this case, we report a rare case of granulomatous eccrine hidradenitis in a 3-year-old girl with acute lymphoblastic leukemia (ALL), with intense granulomatous inflammation around the eccrine ducts in histopathology.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414351","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":"Primary Cutaneous Spindle Cell Sarcoma With FN1::FGFR1 Fusion.","authors":"Ahmed Shah, Ying-Chun Lo, Jorge Torres-Mora","doi":"10.1111/cup.14794","DOIUrl":"https://doi.org/10.1111/cup.14794","url":null,"abstract":"<p><p>We report a case of a primary cutaneous spindle cell sarcoma (SCS) with FN1::FGFR1 fusion. The tumor lacked the typical histologic and immunohistochemical features associated with other FN1-rearranged neoplasms, such as phosphaturic mesenchymal tumors (PMT) and calcified chondroid mesenchymal neoplasms (CCMN). Unlike PMTs, which often feature a cartilaginous matrix and are associated with tumor-induced osteomalacia (TIO), the present case lacked these characteristics and did not show FGF23 mRNA expression. Immunohistochemically, the tumor cells showed patchy staining for CD34 but were negative for markers such as ERG, desmin, S100, and pan-TRK. The fusion event in this case involves the loss of the FGFR1 Ig1 (D1) domain, a mechanism proposed to drive oncogenesis by releasing FGFR1 from autoinhibition. Despite the preservation of other FGFR1 domains, no evidence of FGF23 signaling was detected, and the patient had no clinical history of TIO. This case underscores the complexity of oncogenesis in FN1::FGFR1-rearranged neoplasms, a form of \"promiscuous\" gene fusion, where similar fusions lead to diverse tumor phenotypes. It emphasizes the importance of incorporating molecular testing in diagnosing spindle cell sarcomas, particularly those occurring in acral sites, to identify this underrecognized entity.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408082","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":"Clinical and Histopathological Insights Into Lupus Miliaris Disseminatus Faciei: A Review of 70 Cases.","authors":"Maryam Nasimi, Saba Bandani, Kambiz Kamyab, Ifa Etesami, Sahar Montazeri, Fatemeh Saberi, Hanie Babaie","doi":"10.1111/cup.14796","DOIUrl":"https://doi.org/10.1111/cup.14796","url":null,"abstract":"<p><strong>Background: </strong>Lupus miliaris disseminatus faciei (LMDF) is a granulomatous inflammatory disease often manifesting on the face as red, brown, or yellow papules. Lesions can cause scarring and disfigurement. There is no standard treatment due to a limited understanding of the etiology.</p><p><strong>Method: </strong>This review examines the clinical and histopathological characteristics of 70 LMDF patients who were diagnosed from 2016 to 2022.</p><p><strong>Results: </strong>The patients' mean age was 32.43, with a majority being in their 20s and 30s. Females were more affected during the fourth decade and beyond. The average disease duration among patients was 7.2 months. All of them had facial involvement, mostly around the eyes and on the eyelids. Histopathological analysis revealed epithelioid granulomas with inflammatory cell infiltration and, in some cases, central caseous necrosis. A relationship between the granuloma and the pilosebaceous unit was seen in 75.7% of cases. Epidermal changes, like acanthosis, were found in 47.1% of cases. We also report the existence of linear vessels in 25 (35.7%) cases.</p><p><strong>Conclusion: </strong>Most authors now consider LMDF a distinct entity, but because of its resemblance to other diseases like granulomatous rosacea, the diagnosis is challenging. Unlike many studies in this field, we provide a quite large sample and report telangiectasia in LMDF patients, which highlights the importance of precisely differentiating LMDF from rosacea. Delay in diagnosis and treatment increases the risk of scarring. Overall, we believe this study provides valuable insights into the demographics and histopathology of LMDF, contributing to the understanding of this challenging skin disorder.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408078","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":"Localized Foot Amyloidosis From Monoclonal B Cell Lymphoma.","authors":"Emma R McIntyre, Jasdeep K Sharma","doi":"10.1111/cup.14791","DOIUrl":"https://doi.org/10.1111/cup.14791","url":null,"abstract":"<p><p>Localized cutaneous amyloidosis is a rare dermatologic finding necessitating extensive diagnostic workup to include serum protein electrophoresis, fat pad biopsy, and imaging to rule out underlying hematologic disease or systemic involvement. Herein we detail a case of AL amyloidoma in a 73-year-old male that presented as chronic violaceous patches of the bilateral feet. Punch biopsy of these lesions revealed congo red-positive amyloid deposits, and further testing revealed an underlying monoclonal B cell lymphocytosis that remained stable at 6 months follow up. This case highlights the importance of distinguishing localized amyloidoma from systemic disease and other hematological malignancies.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390970","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 Rare Case of Bullous Melanoma With Subepidermal Separation","authors":"Gamze Taş-Aygar,&nbsp;Müzeyyen Gönül,&nbsp;Bengü Çevirgen-Cemil,&nbsp;Aysun Gökçe,&nbsp;Selda Pelin Kartal","doi":"10.1111/cup.14789","DOIUrl":"10.1111/cup.14789","url":null,"abstract":"<div>\u0000 \u0000 <p>Several rare subtypes of melanoma, beyond the classic variants, have been described in the literature. The rarity of these variants can hinder recognition and lead to delays in clinical diagnosis. Bullous melanoma is one such rare subtype. Blister formation in bullous melanoma can occur either intraepidermally or subepidermally. While most reported cases exhibit intraepidermal separation, only three cases with subepidermal separation have been documented to date. Here, we present a rare case of bullous melanoma with subepidermal separation characterized by exceptional recurrent bullous episodes.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"294-298"},"PeriodicalIF":1.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374151","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 Rare Case of Cutaneous Intraneural Glomus Tumor.","authors":"Diana Frimpong, Sahar Naz, Murtaza Kadhum, Magdalena Rogut, Taiba Farooque, Jennifer O'Neill, Ann Fleming","doi":"10.1111/cup.14793","DOIUrl":"https://doi.org/10.1111/cup.14793","url":null,"abstract":"<p><p>The cutaneous intraneural glomus tumor has been described twice in the literature and remains a rare phenomenon. We present the case of a painful cutaneous lesion on the back of a 77-year-old man. Histopathologic examination of the resected lesion revealed a solid dermal nodule set within an expanded peripheral nerve. Immunohistochemistry confirmed the morphological findings with an Smooth Muscle Actin (SMA) positive nodule encased by nerve fascicles demonstrating S100 positivity with a peripheral layer of Epithelial Membrane Antigen (EMA) positive perineural cells. These findings are in keeping with the previous reported cases of cutaneous intraneural glomus tumors and this entity should be considered in the differential diagnosis of painful cutaneous lesions.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374153","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 Tools for the Diagnosis of CIC-Rearranged Sarcoma: A Comprehensive Review","authors":"Jeffrey M. Cloutier,&nbsp;Rami N. Al-Rohil,&nbsp;Rajiv M. Patel,&nbsp;Jennifer S. Ko,&nbsp;Konstantinos Linos","doi":"10.1111/cup.14792","DOIUrl":"10.1111/cup.14792","url":null,"abstract":"<p>\u0000 <i>CIC</i>-rearranged sarcoma is a rare and aggressive undifferentiated round cell sarcoma that presents significant diagnostic challenges due to its histologic overlap with other round cell sarcomas. This review, conducted on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (soft tissue subgroup), provides an overview of current immunohistochemical, cytogenetic, and molecular tests used to support the diagnosis of <i>CIC</i>-rearranged sarcoma. This comprehensive analysis included 36 studies, encompassing 436 <i>CIC</i>-rearranged sarcomas. The immunohistochemical markers, CD99 (typically non-diffuse), nuclear WT1, ETV4, and DUX4, were found to be relatively highly sensitive for <i>CIC</i>-rearranged sarcoma (CD99: 87%, WT1: 83%, ETV4: 85%, DUX4: 97%). However, the specificity of these markers is variable, with CD99 being highly non-specific, while WT1 (81%–90%), ETV4 (95%), and DUX4 (100%) offering greater specificity. <i>CIC</i> break-apart FISH can be a helpful and cost-effective assay for detection of <i>CIC</i>-rearrangements, but has a false-negative rate that ranges from 26% to 43%. Next-generation sequence RNA fusion analysis also carries a risk of false negatives, which may be partly mitigated through manual data review. Ultimately, an accurate diagnosis of <i>CIC</i>-rearranged sarcoma requires careful morphologic assessment in combination with immunohistochemical studies and cytogenetics/molecular assays.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"324-331"},"PeriodicalIF":1.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14792","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374156","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":"Presence and Propensities of Cutaneous Immunofluorescence in ANCA-Associated Vasculitis.","authors":"Julian Stashower, Ugochukwu Kingsley Odega, Nakisa Sadeghi, Briana Heinly, Karlyn Pollack, Vimal K Derebail, Matthew Helm, Sarah Gradecki, Galen Foulke, R Hal Flowers","doi":"10.1111/cup.14787","DOIUrl":"https://doi.org/10.1111/cup.14787","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006046","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":"Nicotinic Acetylcholine Receptor Expression in Merkel Cell Carcinoma Is Associated With Clinical and Histopathologic Parameters","authors":"Christopher R. Cunningham,&nbsp;Yiannis P. Dimopoulos,&nbsp;Ian M. García-Quiñones,&nbsp;Denái R. Milton,&nbsp;Manuel Delgado-Vélez,&nbsp;Woo Cheal Cho,&nbsp;Victor G. Prieto,&nbsp;José A. Lasalde-Dominicci,&nbsp;Leomar Y. Ballester,&nbsp;Phyu P. Aung","doi":"10.1111/cup.14773","DOIUrl":"10.1111/cup.14773","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous malignancy with neuroendocrine differentiation. Several molecular pathways have been implicated in MCC development and multiple cell-of-origin candidates have been proposed, including neural crest cells, which express acetylcholine receptors (AChRs). The role of nicotinic acetylcholine receptors (nAChRs) in MCC has not been explored. In this study, we investigated if MCC expresses nAChRs and if nAChR expression correlates with patient characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 71 MCC cases diagnosed with sufficient tissue available to perform immunohistochemical analysis. The median follow-up was 29.8 months (range, 2.7–234.1). We performed immunohistochemistry using antibodies against the α3, α5, and α7nAChR subunits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our results show that the majority of MCC cases expressed α3, α5, and α7-nAChR subunits. Of the 71 cases, 59 (83%) expressed α3-nAChR, 71 (100%) expressed α5-nAChR, and 63 (88%) expressed α7-nAChR. Location of immunoreactivity differed between cases and included cytoplasmic only and nuclear/peri-nuclear, with variation in the intensity of staining. There were significant correlations between the intensity or location of immunoreactivity and clinical and histopathologic parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings seem to support that MCC displays the features of neural crest cells, and suggest the potential for nAChR-targeted therapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"317-323"},"PeriodicalIF":1.6,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006045","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}