Journal of Cutaneous Pathology最新文献_第2页

Large Congenital Melanocytic Nevus With LMNA::NTRK1 Fusion: Expanding Targeted Therapy Options for Congenital Nevi and Melanoma 大型先天性黑素细胞痣与LMNA::NTRK1融合：扩大先天性痣和黑色素瘤的靶向治疗选择。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-06-03 DOI: 10.1111/cup.14822

Akanksha Nagarkar, Jackson Turbeville, Molly A. Hinshaw, Philip E. LeBoit, Jeffrey Gagan, Mark Raffeld, Kenneth Aldape, Niharika Shah, Frederic G. Barr, Liqiang Xi, Ina Lee, Christina K. Ferrone, Svetlana D. Pack, Rosandra Kaplan, Mary Frances Wedekind Malone, Marielle Yohe, Michael R. Sargen

{"title":"Large Congenital Melanocytic Nevus With LMNA::NTRK1 Fusion: Expanding Targeted Therapy Options for Congenital Nevi and Melanoma","authors":"Akanksha Nagarkar, Jackson Turbeville, Molly A. Hinshaw, Philip E. LeBoit, Jeffrey Gagan, Mark Raffeld, Kenneth Aldape, Niharika Shah, Frederic G. Barr, Liqiang Xi, Ina Lee, Christina K. Ferrone, Svetlana D. Pack, Rosandra Kaplan, Mary Frances Wedekind Malone, Marielle Yohe, Michael R. Sargen","doi":"10.1111/cup.14822","DOIUrl":"10.1111/cup.14822","url":null,"abstract":"<p>Large congenital melanocytic nevi/nevus (LCMN) are caused by genetic events that activate the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinase (ERK) pathway. Individuals with LCMN are prone to developing aggressive melanomas during childhood. Targeted therapies are needed to treat this form of melanoma and manage LCMN symptoms such as pruritus and pain, which significantly impact quality of life. Here, we present the first case of an LCMN with an <i>NTRK</i> fusion driver event. The patient presented with an atypical proliferative nodule arising in the background nevus. RNA sequencing of the proliferative nodule with background nevus identified a pathogenic <i>LMNA::NTRK1</i> fusion. The fusion resulted in constitutive expression of TrkA, demonstrated by strong cytoplasmic pan-TRK staining, along with activation of the MAPK/ERK pathway, as indicated by positive nuclear and cytoplasmic staining for phosphorylated ERK. The background nevus beneath the proliferative nodule also expressed pan-TRK and phosphorylated ERK, suggesting that the <i>NTRK1</i> fusion occurred prior to the formation of the proliferative nodule. This case broadens the spectrum of driver events for LCMN and suggests that screening for <i>TRK</i> fusions in LCMN should be considered when systemic therapy is being considered for melanoma or symptom management.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 8","pages":"523-527"},"PeriodicalIF":1.6,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14822","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208675","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}

引用次数: 0

Malignant CRTC1::TRIM11 Cutaneous Tumor With Lethal Outcome: Histopathologic and Molecular Findings 恶性CRTC1::TRIM11皮肤肿瘤致死性结局：组织病理学和分子研究结果。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-06-02 DOI: 10.1111/cup.14824

Meghan E. Beatson, James W. Smithy, Dylan Domenico, Gunes Gundem, Elli Papaemmanouil, Andrea Moy, Joyce M. Chen, Melissa P. Pulitzer, Charlotte Ariyan, Klaus J. Busam

{"title":"Malignant CRTC1::TRIM11 Cutaneous Tumor With Lethal Outcome: Histopathologic and Molecular Findings","authors":"Meghan E. Beatson, James W. Smithy, Dylan Domenico, Gunes Gundem, Elli Papaemmanouil, Andrea Moy, Joyce M. Chen, Melissa P. Pulitzer, Charlotte Ariyan, Klaus J. Busam","doi":"10.1111/cup.14824","DOIUrl":"10.1111/cup.14824","url":null,"abstract":"<div>\u0000 \u0000 <p>While early reports of <i>CRTC1::TRIM11</i> cutaneous tumors suggested a predominantly indolent clinical course, a few cases have been documented with lymph node and distant metastases. We report herein a metastasizing tumor with a lethal outcome. It presented as a subcutaneous mass on the back of a 17-year-old teenager. Histopathologically, the tumor was subepidermal and composed of amelanotic spindle and epithelioid cells with nuclear pleomorphism. The tumor cells were immunoreactive for Sox10 and S100, focally positive for Melan-A, and negative for PRAME. Whole genome and whole transcriptome sequencing revealed a <i>CRTC1::TRIM11</i> fusion as well as a number of additional genetic and genomic aberrations. No <i>TERT</i> promoter gene mutation was identified. The patient developed metastases to the lung, lymph nodes, and soft tissue. The tumor was refractory to various treatments. The patient died of widely metastatic disease 18 months after clinical presentation. This case expands our knowledge of the clinical, pathologic, and molecular findings of <i>CRTC1::TRIM11</i> cutaneous tumors. In contrast to other reported cases, the tumor of our patient contained additional genomic aberrations. More cases are needed to assess what factors are relevant for the prognosis of <i>CRTC1::TRIM11</i> cutaneous tumors to help distinguish those with indolent from those with aggressive behavior.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 8","pages":"528-532"},"PeriodicalIF":1.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199196","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}

引用次数: 0

Unusual Presentation of Solid-Variant Aneurysmal Bone Cysts as Primary Digital Skin Lesions: A Case Series Emphasizing Radiologic and Dermatopathologic Correlation 实变动脉瘤性骨囊肿作为原发性手指皮肤病变的不寻常表现：一个强调放射学和皮肤病理学相关性的病例系列。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-05-29 DOI: 10.1111/cup.14821

Shuai Li, Christopher J. Huerter, John M. Gross, Andrew B. Siref

{"title":"Unusual Presentation of Solid-Variant Aneurysmal Bone Cysts as Primary Digital Skin Lesions: A Case Series Emphasizing Radiologic and Dermatopathologic Correlation","authors":"Shuai Li, Christopher J. Huerter, John M. Gross, Andrew B. Siref","doi":"10.1111/cup.14821","DOIUrl":"10.1111/cup.14821","url":null,"abstract":"<div>\u0000 \u0000 <p>Solid-variant aneurysmal bone cysts (ABC) are rare benign bone neoplasms that lack the characteristic prominent blood-filled cystic spaces of classic ABCs and can present in unusual locations, such as the distal extremities. We report three patients with an age range of 40–53 years (mean 48) of solid-variant ABCs presenting as skin-associated masses on the fingers, a highly unusual and diagnostically challenging presentation from both clinical and dermatopathologic standpoints. These lesions initially posed a diagnostic challenge due to their resemblance to more common dermatologic entities, such as pyogenic granuloma or giant cell tumor of the tendon sheath. Histopathologic findings in the initial shave biopsy of case 1 were composed of granulation tissue-like material consisting of bland spindle cells, admixed with sparse multinucleated giant cells and were nonspecific without corresponding radiologic imaging correlation, in which all three cases demonstrated distal phalanx lucencies with extraosseous extension into the dermis/subcutis. Evaluation of the surgical excision specimens of these cases revealed classic morphologic features of solid-variant ABC, including haphazard growth of bland (myo)fibroblastic spindle cells and multinucleated giant cells, set in a background of woven bone and hemorrhage. In summary, we emphasize the diagnostic value of radiologic correlation by the pathologist in our series of solid ABCs presenting as cutaneous masses, as initial shave biopsies may contain nonspecific histopathologic findings; thus, radiologic correlation is critical to avoid pitfalls and ensure proper clinical management.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 8","pages":"517-522"},"PeriodicalIF":1.6,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173825","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}

引用次数: 0

Merkel Cell Carcinosarcoma: Wnt Pathway Activation Associated With Sarcomatoid Transformation 默克尔细胞癌肉瘤：Wnt通路激活与肉瘤样转化相关。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-05-28 DOI: 10.1111/cup.14825

Satsuki Kishikawa, Seiji Tsuruta, Eiji Nakano, Dai Ogata, Kenjiro Namikawa, Naoya Yamazaki, Yasushi Yatabe, Taisuke Mori

引用次数: 0

BCL-6-Positive Cutaneous Mantle Zone Hyperplasia: A Novel Subtype of B-Cell Cutaneous Lymphoid Hyperplasia bcl -6阳性皮套带增生：b细胞皮淋巴样增生的一种新亚型。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-05-05 DOI: 10.1111/cup.14820

Atsushi Naito, Hiroyuki Irie, Masakazu Fujimoto, Satoshi Nakamizo, Naotomo Kambe, Hironori Haga, Kenji Kabashima

{"title":"BCL-6-Positive Cutaneous Mantle Zone Hyperplasia: A Novel Subtype of B-Cell Cutaneous Lymphoid Hyperplasia","authors":"Atsushi Naito, Hiroyuki Irie, Masakazu Fujimoto, Satoshi Nakamizo, Naotomo Kambe, Hironori Haga, Kenji Kabashima","doi":"10.1111/cup.14820","DOIUrl":"10.1111/cup.14820","url":null,"abstract":"<div>\u0000 \u0000 <p>Cutaneous lymphoid hyperplasia (CLH) is a benign lymphoid proliferation that may share features of skin lymphoma. Although reactive germinal centers (GCs) are common in B-cell CLH, cases with mantle zone hyperplasia (MZH), a rare phenomenon reported in reactive lymphadenopathy, have never been documented. We report a case of CLH with MZH showing weak BCL-6 expression, complicating its distinction from cutaneous B-cell lymphoma (CBCL). A 57-year-old man presented with erythematous nodules on the face. Biopsy showed diffuse B-cell infiltrates with lymph follicles. BCL-6 was weakly positive in lymphocytes outside the GCs, raising concerns about CBCLs, such as primary cutaneous follicle center lymphoma (PCFCL). However, the infiltrate outside the GCs expressed IgD and TCL1 and was confirmed to be an expanded mantle zone. The absence of cyclin-D1 expression ruled out mantle cell lymphoma. Although Southern blotting showed weak clonal bands, polymerase chain reaction-based clonality analysis and ultrasensitive RNA in situ hybridization for kappa and lambda chains did not detect clonal B-cell proliferation, leading to the diagnosis of CLH. Herein, we report BCL-6-positive cutaneous MZH as a novel subtype of CLH, highlighting the limitations of BCL-6 positivity in extrafollicular B-cells as an indicator for CBCLs, as it can be observed outside the GCs.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 7","pages":"482-486"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993539","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}

引用次数: 0

Invasive Trichophyton rubrum Mimicking Blastomycosis in an Immunocompromised Patient 免疫功能低下患者侵袭性红毛菌模拟芽孢菌病。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-05-05 DOI: 10.1111/cup.14817

Ezdean Alkurdi, Omar Alani, Dany Alkurdi, Elizabeth Page, Artur Zembowicz, Adriano Piris, Zachary Schwager

引用次数: 0

Unilateral Pachydermodactyly in a Young Female: A Rare Diagnosis Requiring Novel Clinicopathological Correlation 年轻女性单侧厚皮畸形：罕见的诊断需要新的临床病理相关性。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-04-26 DOI: 10.1111/cup.14818

Nicole K. Hooten, Patrick S. Phelan, Sara C. Shalin, Megan S. Evans

{"title":"Unilateral Pachydermodactyly in a Young Female: A Rare Diagnosis Requiring Novel Clinicopathological Correlation","authors":"Nicole K. Hooten, Patrick S. Phelan, Sara C. Shalin, Megan S. Evans","doi":"10.1111/cup.14818","DOIUrl":"10.1111/cup.14818","url":null,"abstract":"<div>\u0000 \u0000 <p>Pachydermodactyly (PDD) is a rare, non-inflammatory fibromatosis characterized by thickening of the proximal interphalangeal joints, typically presenting bilaterally in adolescent males. We report a case of unilateral pachydermodactyly transgrediens in a 14-year-old female with a one-year history of painless, doughy thickening and hyperpigmentation on the left proximal interphalangeal joints. Comprehensive labwork and imaging studies revealed no evidence of inflammatory joint disease, leading to further investigation by biopsy to confirm the suspected diagnosis of unilateral pachydermodactyly and to exclude other diagnostic possibilities. Histopathologic examination revealed findings consistent with PDD: epidermal hyperkeratosis, acanthosis, and disorganized dermal collagen bundles without significant inflammation or sclerosis. This case emphasizes the importance of recognizing the typical clinical, histopathologic, and radiographic features of pachydermodactyly, particularly highlighting the absence of specific histopathological features such as inflammation, significant mucin deposition, increased cellularity, fibrosis, or sclerosis. Increased awareness of the varying presentations of PDD may aid in timely diagnosis and help avoid unnecessary evaluation and treatment of more serious conditions that mimic PDD. Our case highlights the importance of clinicopathological correlation in diagnosis PDD, especially in atypical presentations, and aims to increase awareness of this entity among dermatopathologists.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 7","pages":"453-458"},"PeriodicalIF":1.6,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023446","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}

引用次数: 0

Fibrofolliculoma/Trichodiscoma With Focal Follicular Germinative Cell Differentiation 纤维滤泡瘤/毛线虫伴局灶性滤泡萌发细胞分化。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-04-25 DOI: 10.1111/cup.14819

Kotomi Arioka, Taro Sugawara, Kenta Sasaki, Marimi Funahashi, Kaori Koga, Shintaro Sugita

{"title":"Fibrofolliculoma/Trichodiscoma With Focal Follicular Germinative Cell Differentiation","authors":"Kotomi Arioka, Taro Sugawara, Kenta Sasaki, Marimi Funahashi, Kaori Koga, Shintaro Sugita","doi":"10.1111/cup.14819","DOIUrl":"10.1111/cup.14819","url":null,"abstract":"<div>\u0000 \u0000 <p>Fibrofolliculoma (FF) and trichodiscoma (TD) are benign adnexal tumors that arise from hair follicles or their surrounding structures. They seldom show a histology of hair germ. In this report, we present an interesting case of FF/TD with focal follicular germinative cell differentiation. A 56-year-old female presented with a solitary 8 mm nodule that was located behind the left ear. Histologically, a nodular tumor protruded from the skin surface and presented some follicular infundibulum-like structures that showed cystic expansion continuous with the epidermis. Thin epithelial cords consisted of 2 to 3 layers of cuboidal to columnar cells, and they radially expanded from a center of the follicle-like structure. The epithelial cords showed an anastomosed to fenestrated pattern with many various-sized sebaceous lobules. In some areas, peripheral portions of the epithelial cords continued to the follicular germs that were composed of basaloid cells with peripheral palisading. On immunohistochemistry, basaloid cells of the nest of follicular germinative cells only showed a strong expression of PHLDA1 and BerEP4. Based on these findings, we diagnosed this tumor as FF/TD with focal follicular germinative cell differentiation. It provides valuable insights into the origin and disease concept of these tumors.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 7","pages":"478-481"},"PeriodicalIF":1.6,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007615","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}

引用次数: 0

Contact Dermatitis of the Scalp Also Demonstrates Sebaceous Gland Atrophy 头皮接触性皮炎也表现为皮脂腺萎缩。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-04-23 DOI: 10.1111/cup.14814

Jonathan J. Lee, Divya Angra, Leonard C. Sperling

引用次数: 0

Histopathologic Features in Urticaria and Urticarial Variants: Plasma Cells Should Be Rare 荨麻疹和荨麻疹变体的组织病理学特征：浆细胞应该是罕见的。

IF 1.6 4区医学

Journal of Cutaneous Pathology Pub Date : 2025-04-22 DOI: 10.1111/cup.14815

Sena Zengin, Lauren C. Morehead, Sara C. Shalin

{"title":"Histopathologic Features in Urticaria and Urticarial Variants: Plasma Cells Should Be Rare","authors":"Sena Zengin, Lauren C. Morehead, Sara C. Shalin","doi":"10.1111/cup.14815","DOIUrl":"10.1111/cup.14815","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Urticaria is a common cutaneous reaction pattern characterized by clinically transient edematous papules and wheals. Microscopically, intensity and predominant inflammatory cell type can vary, including lymphocytes, eosinophils, neutrophils, and mast cells. Plasma cells are rarely described within the infiltrate of urticaria, but systematic study to evaluate the frequency of this finding is lacking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>The institutional dermatopathology archive was searched for 2018–2023 to identify cases diagnosed as urticaria and urticarial variants; 58 consecutive cases were included. Study authors, including one board-certified dermatopathologist, evaluated H&E slides for variation in inflammatory cells present, inflammation density/distribution, and predominant cell types.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty-eight cases (female: 39, male: 19) were reviewed. Eleven cases (19%) showed rare, scattered plasma cells (0.02–0.09/mm<sup>2</sup>). Other inflammatory cell types predominated and, like other studies, fell into lymphocytic and neutrophilic predominant categories. Inflammation density predominantly ranged from sparse to moderate, with only two cases having brisk inflammation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study highlights that rare plasma cells may be present in urticaria biopsies but should not be abundant or clustered.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 7","pages":"497-505"},"PeriodicalIF":1.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026659","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}

引用次数: 0