American Journal of Dermatopathology最新文献

Cellular Dermatofibroma Harboring a Novel MYADM::PRKCG Gene Fusion: A Case Report. 含有新型MYADM::PRKCG基因融合的细胞性皮肤纤维瘤1例报告。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-06 DOI: 10.1097/DAD.0000000000003315

Mario Della Mura, Oren Krimchansky, Alessandro Rizzo, Irma Trilli, Cecilia Salzillo, Francesco Fortarezza, Angelo Paolo Dei Tos, Richard K Yang, Woo Cheal Cho, Gerardo Cazzato

{"title":"Cellular Dermatofibroma Harboring a Novel MYADM::PRKCG Gene Fusion: A Case Report.","authors":"Mario Della Mura, Oren Krimchansky, Alessandro Rizzo, Irma Trilli, Cecilia Salzillo, Francesco Fortarezza, Angelo Paolo Dei Tos, Richard K Yang, Woo Cheal Cho, Gerardo Cazzato","doi":"10.1097/DAD.0000000000003315","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003315","url":null,"abstract":"Abstract: The application of molecular techniques has significantly refined the classification of cutaneous mesenchymal tumors, uncovering recurrent genetic alterations that aid in diagnostically challenging cases. Dermatofibroma, or cutaneous fibrous histiocytoma, is a common benign neoplasm with broad morphologic variability and limited immunohistochemical specificity, for which recurrent protein kinase C gene fusions have recently been described. We report a novel case of a cellular, pseudoangiomatous DF arising on the dorsum of a 56-year-old man and harboring an in-frame MYADM::PRKCG fusion transcript. Histologically, the lesion displayed high cellularity and prominent vascularity, and focal smooth muscle actin and desmin positivity, initially suggesting angiomatoid fibrous histiocytoma. Targeted RNA sequencing identified a previously unreported MYADM::PRKCG fusion, enabling definitive classification. This is the first description of a MYADM::PRKCG rearrangement in DF, further expanding our knowledge about the molecular landscape of this neoplasm.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147845803","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

Leiomyosarcoma With Dedifferentiation Mimicking a Benign Neoplasm. 模拟良性肿瘤的去分化平滑肌肉瘤。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-02-19 DOI: 10.1097/DAD.0000000000003243

Megan Hoang, Fatima N Mirza, Annie R Wang, Christopher DiMarco, Jesse Hart, Leslie Robinson-Bostom, Tiffany J Libby

{"title":"Leiomyosarcoma With Dedifferentiation Mimicking a Benign Neoplasm.","authors":"Megan Hoang, Fatima N Mirza, Annie R Wang, Christopher DiMarco, Jesse Hart, Leslie Robinson-Bostom, Tiffany J Libby","doi":"10.1097/DAD.0000000000003243","DOIUrl":"10.1097/DAD.0000000000003243","url":null,"abstract":"Abstract: Superficial leiomyosarcoma is a rare soft tissue sarcoma that typically presents as a firm, painful nodule in adults older than 50 years. We report a unique case of a 35-year-old woman with a slow-growing, mobile, subcutaneous nodule on the upper arm, initially presumed to be a benign lesion, most likely an angiolipoma. After excisional biopsy, histopathologic evaluation revealed an intermediate-grade leiomyosarcoma with focal dedifferentiation, demonstrating an abrupt transition from well-differentiated leiomyosarcoma to a high-grade, immunophenotypically undifferentiated sarcoma. Immunohistochemical staining showed loss of smooth muscle actin and desmin in the central dedifferentiated region, with retention of these stains at the peripheral lower-grade components. Wide local excision achieved clear margins, and imaging revealed no metastasis. Only 2 prior cases of cutaneous dedifferentiated leiomyosarcoma have been reported, both in the head and neck and with a more classic clinical presentation of a firm and immobile nodule. Our case is unusual in its location and deceptively benign clinical presentation. Given its aggressive potential and high reported rates of metastasis and mortality, prompt recognition and excisional biopsy are essential for diagnosis. This case highlights the importance of maintaining clinical suspicion for malignancy in persistent subcutaneous nodules and adds to the limited literature on dedifferentiated cutaneous leiomyosarcoma.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"367-369"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229755","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

Comprehensive Genomic Profiling of Acral Melanoma: Insights From the AACR Project GENIE Database. 肢端黑色素瘤的全面基因组分析：来自AACR项目GENIE数据库的见解。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-02-06 DOI: 10.1097/DAD.0000000000003237

Julia K Russolillo, Alex Schaedler, Beau Hsia, Peter T Silberstein, Abubakar Tauseef, Elijah Torbenson

{"title":"Comprehensive Genomic Profiling of Acral Melanoma: Insights From the AACR Project GENIE Database.","authors":"Julia K Russolillo, Alex Schaedler, Beau Hsia, Peter T Silberstein, Abubakar Tauseef, Elijah Torbenson","doi":"10.1097/DAD.0000000000003237","DOIUrl":"10.1097/DAD.0000000000003237","url":null,"abstract":"Background: Acral melanoma (AM) is a rare but aggressive melanoma subtype that arises on palmoplantar surfaces and nail units. It disproportionately affects individuals with darker skin tones and is frequently diagnosed at advanced stages. Limited genomic data have hindered the development of effective targeted therapies.Methods: A retrospective genomic analysis of AM was conducted using the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange repository, evaluating 212 tumor samples from 203 patients for somatic mutations, copy number alterations, and mutational patterns across demographic and clinical variables. Co-occurrence, mutual exclusivity, and survival analyses were also performed.Results: NRAS (21.2%), BRAF (18.3%), and KIT (9.0%) were the most common mutations. CDKN2A and CDKN2B deletions occurred in over 20% of the samples, along with recurrent amplifications in CDK4 , CCND1 , and TERT . Significant comutation patterns included NF1 - PTPRT and KRAS - TERT . Mutation frequencies varied across sex and racial groups, and NAB2 mutations were exclusive to metastatic tumors.Conclusion: This study provides a comprehensive genomic overview of AM, highlighting recurrent alterations in the MAPK and cell cycle pathways, and potential demographic-specific molecular signatures. These findings support the need for expanded molecular profiling to improve prognostic accuracy and identify targets for future therapy.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"354-360"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13095056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146133614","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

YAP1::MAML2 Fusion in Adnexal Tumors Combining Poroma and Sebaceous Components: Report of Two Cases. YAP1::MAML2融合治疗合并皮脂腺和皮脂腺的附件肿瘤2例报告

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1097/DAD.0000000000003234

Clara Noebel, Marie-Laure Juillé, Ana-Maria Gebing, Dmitry V Kazakov, Thibault Kervarrec

{"title":"YAP1::MAML2 Fusion in Adnexal Tumors Combining Poroma and Sebaceous Components: Report of Two Cases.","authors":"Clara Noebel, Marie-Laure Juillé, Ana-Maria Gebing, Dmitry V Kazakov, Thibault Kervarrec","doi":"10.1097/DAD.0000000000003234","DOIUrl":"10.1097/DAD.0000000000003234","url":null,"abstract":"Abstract: Poroma is a benign sweat gland tumor harboring YAP1::MAML2 and YAP1::NUTM1 fusion transcripts in most of the cases. Recently, YAP1 fusions have also been detected in trichoblastomas and in 1 sebaceoma. To expand the spectrum of YAP1 -fused adnexal tumors, we report herein 2 cases of adnexal tumors with YAP1::MAML2 fusion transcript combining a poroma and a sebaceous component. These 10- and 7-mm diameter neoplasms arose in a 55-year-old man and in a 90-year-old woman and were located on the back and the right breast, respectively. Microscopically, both lesions harbored a biphasic appearance resulted from a superficial poroma component associated with relatively well-demarcated areas of sebaceous differentiation located either in the epidermal (case #1) or in the intradermal part of the lesions (case #2). Immunohistochemical investigation of the cases revealed diffuse positivity of the androgen receptor in the sebaceous areas together with loss of YAP1 in both poroid and sebaceous parts. Accordingly, molecular analysis of the cases revealed the presence of an in-frame YAP1::MAML2 fusion transcript. To conclude, our cases confirmed that YAP1 fusions are the oncogenic drivers of a subset of adnexal tumors that may harbor poroid, follicular but also sebaceous differentiation.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"374-377"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146196108","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

Spitz Nevi With Novel BRAF Fusions: A Report of Two Cases With Striking Morphologic Features. Spitz Nevi与新型BRAF融合：两例具有显著形态特征的报告。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-03-04 DOI: 10.1097/DAD.0000000000003222

Zachary Corey, Danica Wiredja, Nicholas Willard, Joshua Wisell, Shyam S Raghavan

{"title":"Spitz Nevi With Novel BRAF Fusions: A Report of Two Cases With Striking Morphologic Features.","authors":"Zachary Corey, Danica Wiredja, Nicholas Willard, Joshua Wisell, Shyam S Raghavan","doi":"10.1097/DAD.0000000000003222","DOIUrl":"10.1097/DAD.0000000000003222","url":null,"abstract":"Abstract: Spitz neoplasms comprise a spectrum of melanocytic lesions with overlapping clinical and histologic features. BRAF fusions account for only 5%-6% of Spitz neoplasms with a limited number of fusion partners being characterized. We report 2 Spitz nevi with novel BRAF fusions and reproducible morphologic findings. The first case, a 35-year-old man with a finger mass, morphologically demonstrated intraepidermal and dermal proliferation of enlarged epithelioid melanocytes without maturation, and a striking pattern of neurotropism and angiotropism. Immunohistochemistry revealed <30% PRAME expression and retained p16, while next-generation sequencing identified a novel in-frame AHNAK::BRAF fusion. The second case, a 47-year-old man with an atypical skin lesion on the back of his neck, exhibited a circumscribed intradermal proliferation of epithelioid and spindle melanocytes with Spitzoid cytomorphology, again characterized by the striking pattern of neurotropism and entrapment of epithelioid cells within a fibrous stroma. This lesion was PRAME-negative with retained p16, and molecular studies identified a novel PDE4DIP::BRAF fusion. Both fusions preserved the BRAF kinase domain while eliminating its N-terminal regulatory regions. These cases expand the molecular spectrum of Spitz neoplasms and underscore neurotropism as a potential morphologic clue for BRAF fusion-driven Spitz nevi.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"397-401"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357385","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

Aryl Hydrocarbon Receptor Expression in Cutaneous Lupus: A Clinicopathologic Correlation. 芳香烃受体在皮肤红斑狼疮中的表达：临床病理相关性。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-03-02 DOI: 10.1097/DAD.0000000000003253

Peyton V Warp, Victoria Soto, Kimberly N Williams, Yoseph Dalia, Paolo Romanelli, Ivan Jozic, Andrea D Maderal

引用次数: 0

Comparing Diagnostic Accuracy of Shave Versus Punch Biopsies in Cutaneous T-Cell Lymphoma. 皮肤t细胞淋巴瘤的刮刀活检与穿刺活检诊断准确性比较。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-03-06 DOI: 10.1097/DAD.0000000000003238

Olivia M Burke, Arjun Ghodasara, Eric R Bray, Yoseph Dalia, Scott A Elman

引用次数: 0

CD5-Positive Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type: An Unusual Presentation. cd5阳性原发性皮肤弥漫性大b细胞淋巴瘤，腿部型：一种不寻常的表现。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-03-04 DOI: 10.1097/DAD.0000000000003258

Anna A Kozyreva, Ilya V Tsvetnov, Kirill A Lyapichev, Ihar I Haiduk

{"title":"CD5-Positive Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type: An Unusual Presentation.","authors":"Anna A Kozyreva, Ilya V Tsvetnov, Kirill A Lyapichev, Ihar I Haiduk","doi":"10.1097/DAD.0000000000003258","DOIUrl":"10.1097/DAD.0000000000003258","url":null,"abstract":"Abstract: Primary cutaneous diffuse large B-cell lymphoma-leg type (PCDLBCL-LT) is a rare and aggressive lymphoma of elderly patients, typically affecting the lower extremities and characterized by centroblast- and immunoblast-like cells with a non-germinal center phenotype (MUM1+, BCL2+, IgM+, CD10-). CD5-positive cases are exceptionally uncommon and pose a diagnostic challenge, as CD5 expression broadens the differential diagnosis to include other B-cell lymphomas such as mantle cell lymphoma and transformed chronic lymphocytic leukemia. We describe a 70-year-old female patient who presented with a 2-cm cutaneous nodule on the lower extremity. Histopathology revealed a pandermal diffuse infiltrate of atypical large B-cells. Immunohistochemistry showed a CD5+, CD20+, MUM1+, BCL2+, IgM+, cyclin D1-profile, supporting CD5 + PCDLBCL-LT. Fluorescence in situ hybridization for MYC , BCL2 , and BCL6 rearrangements were negative, effectively ruling out double-hit/triple-hit lymphoma. The patient achieved a complete metabolic response after six cycles of R-CHOP chemotherapy, which was maintained for 24 months. However, she subsequently developed extracutaneous relapse involving the soft tissues of the extremities, trunk, and periorbital region, consistent with a progression. Treatment with a rituximab-bevacizumab combination regimen induced a second complete remission, sustained for six months at the time of reporting. Our case highlights the importance of routine CD5 testing in PCDLBCL-LT to identify this distinct subgroup and to guide appropriate differential diagnosis and patient monitoring.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"370-373"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357348","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

A Case of Malignant Melanoma With Numerous Wagner-Meissner-Like Bodies. 恶性黑色素瘤伴大量wagner - meissner样体1例。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-02-06 DOI: 10.1097/DAD.0000000000003240

Michelle D Colbert, Katherine Holder, Burak Tekin, Janeen Noelle Buonaccorsi, Katherine B Geiersbach, Ruifeng Ray Guo, Michael J Camilleri

{"title":"A Case of Malignant Melanoma With Numerous Wagner-Meissner-Like Bodies.","authors":"Michelle D Colbert, Katherine Holder, Burak Tekin, Janeen Noelle Buonaccorsi, Katherine B Geiersbach, Ruifeng Ray Guo, Michael J Camilleri","doi":"10.1097/DAD.0000000000003240","DOIUrl":"10.1097/DAD.0000000000003240","url":null,"abstract":"Abstract: Melanoma exhibits a broad spectrum of histopathologic variations, including rare forms with neural differentiation. Neurotropism in melanoma encompasses both perineural invasion and neural-like transformation, but the prognostic implications of these features remain uncertain. Although (peri)neural invasion is well documented, true neural differentiation in melanomas is exceedingly rare. In this study, we describe an unusual case of primary cutaneous malignant melanoma exhibiting extensive Wagner-Meissner-like bodies, a feature more commonly associated with benign neural tumors and nevi. In this case, histopathology revealed a dual-component lesion with a neurotized and an epithelioid melanocytic component, both showing PRAME expression and p16 loss. Chromosomal microarray identified heterozygous loss of 9p22.1p13.1 (including CDKN2A / CDKN2B ), and loss of 10q22.2q26.3 (including PTEN ), supporting malignancy. These findings suggest that in this case, Wagner-Meissner-like bodies likely represent neurotization rather than a benign or collision lesion, highlighting the need for integrated histopathologic, immunohistochemical, and molecular analysis in challenging melanocytic neoplasms.","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"363-366"},"PeriodicalIF":1.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146133653","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

A Case of Lepromatous Leprosy: Role of Additional Special Stains in Diagnosis. 麻风性麻风1例：附加特殊染色在诊断中的作用。

IF 1 4区医学

American Journal of Dermatopathology Pub Date : 2026-05-01 Epub Date: 2026-03-05 DOI: 10.1097/DAD.0000000000003257

Bria Midgette, Jonwei Hwang, Silvija P Gottesman

引用次数: 0