Journal of Cutaneous Pathology最新文献

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Primary Cutaneous Anaplastic Large Cell Lymphoma With TCR-γδ Expression: A Case Series of Eleven Patients of a Rare Immunophenotypic Variant. 原发性皮肤间变性大细胞淋巴瘤伴TCR-γδ表达:11例罕见免疫表型变异患者
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-04-09 DOI: 10.1111/cup.14809
Anna Sarah Erem, Werner Kempf, Christina Mitteldorf, Melissa Pulitzer, Carlos A Torres-Cabala, Stefano Pileri, Socorro Maria Rodriguez Pinilla, Andrew L Feldman, Alejandro A Gru
{"title":"Primary Cutaneous Anaplastic Large Cell Lymphoma With TCR-γδ Expression: A Case Series of Eleven Patients of a Rare Immunophenotypic Variant.","authors":"Anna Sarah Erem, Werner Kempf, Christina Mitteldorf, Melissa Pulitzer, Carlos A Torres-Cabala, Stefano Pileri, Socorro Maria Rodriguez Pinilla, Andrew L Feldman, Alejandro A Gru","doi":"10.1111/cup.14809","DOIUrl":"https://doi.org/10.1111/cup.14809","url":null,"abstract":"<p><strong>Background: </strong>Primary cutaneous anaplastic large cell lymphoma (pcALCL) and lymphomatoid papulosis (LyP) are indolent CD30-positive lymphoproliferative disorders that rarely express TCR-γδ. However, primary cutaneous gamma-delta T-cell lymphoma (pcGDTCL), characterized by TCR-γδ expression on neoplastic cells, is a rare, aggressive cutaneous T-cell lymphoma with a poor prognosis. Accurate differentiation is essential due to distinct clinical behavior and treatment.</p><p><strong>Methods: </strong>We identified 11 TCR-γδ-positive pcALCL cases from internal and consultation files, verified by two cutaneous lymphoma experts, with clinicopathologic data recorded.</p><p><strong>Results: </strong>The median age was 68 years (range 38-95). Most cases presented as a single dermal lesion on the upper extremities. All were ALK-negative, CD30-positive (> 90% tumor cells), TCR-βF1-negative, and diffusely TCR-γδ-positive. CD4-/CD8- (54.5%) and CD4+/CD8- (45.5%) immunophenotypes were observed. CD2 (63.6%) and CD3 (54.5%) were the most common T-cell antigens. Ulceration, inflammation (both 45.5%), and necrosis (36.4%) were frequent. Angiotropism, angiocentricity, and myxoid stroma appeared in one case; epidermotropism in two. Four of ten tested were DUSP22-rearranged, and TP63 was negative in all eight tested.</p><p><strong>Conclusions: </strong>Most ALK-negative TCR-γδ-positive pcALCL were CD4-/CD8-, followed by CD4+/CD8-. DUSP22 rearrangement occurred in 40% of cases, similar to reports in typical pcALCL. Its prognosis and the role of DUSP22 are yet to be clarified.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811610","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
Histopathologic Evaluation of Density and Depth of the Lymphoid Infiltrate in Clinically Defined Patches and Plaques in Early Stage Mycosis Fungoides. 早期蕈样真菌病临床定义斑块和斑块中淋巴浸润密度和深度的组织病理学评估。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-04-08 DOI: 10.1111/cup.14810
Juliette M Kersten, Rosanne Ottevanger, Thom Doeleman, Pieter A Valkema, Anne M R Schrader, Patty M Jansen, Maarten H Vermeer, Rein Willemze
{"title":"Histopathologic Evaluation of Density and Depth of the Lymphoid Infiltrate in Clinically Defined Patches and Plaques in Early Stage Mycosis Fungoides.","authors":"Juliette M Kersten, Rosanne Ottevanger, Thom Doeleman, Pieter A Valkema, Anne M R Schrader, Patty M Jansen, Maarten H Vermeer, Rein Willemze","doi":"10.1111/cup.14810","DOIUrl":"https://doi.org/10.1111/cup.14810","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803407","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
Hypopigmented Junctional BAP1-Inactivated Melanocytoma: A Paradigm Shift. 低色素沉着的连接bap1失活黑色素细胞瘤:一种范式转变。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-04-06 DOI: 10.1111/cup.14808
Ali Gunesch, Iwei Yeh, Timothy McCalmont, Elizabeth Berry, Gretchen Vanderbeek, Kevin P White
{"title":"Hypopigmented Junctional BAP1-Inactivated Melanocytoma: A Paradigm Shift.","authors":"Ali Gunesch, Iwei Yeh, Timothy McCalmont, Elizabeth Berry, Gretchen Vanderbeek, Kevin P White","doi":"10.1111/cup.14808","DOIUrl":"https://doi.org/10.1111/cup.14808","url":null,"abstract":"<p><p>Since their original description by Wiesner et al., the spectrum of clinical, histopathologic, and molecular findings of BAP1 (BRCA1-associated protein 1)-inactivated melanocytomas has been more fully characterized. Herein, we report an exceptional presentation of multiple junctional melanocytic BAP1-inactivated melanocytomas with a clinically hypopigmented appearance in a patient. Targeted DNA sequencing demonstrated the same BAP1 frameshift mutation (BAP1 p.R59f) in three different lesions. One of the specimens also displayed two truncating mutations in NF1 (NF1 p.Q129* and NF1 p.Q1801*) at 8%-9% mutant allele frequency. To our knowledge, BIM confined entirely to the epidermis, and multiple BIMs presenting in hypopigmented fashion have not been widely reported previously.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795508","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
Clinicopathologic Features of Penile Ulceration in Malignant Atrophic Papulosis: A Case Report and Review of the Literature. 恶性萎缩性丘疹病阴茎溃疡的临床病理特征:1例报告及文献复习。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-04-04 DOI: 10.1111/cup.14805
Matthew H Lanehart, Brooke Bertus, Patrick J Bacaj, Michael S Kolodney, Colleen J Beatty
{"title":"Clinicopathologic Features of Penile Ulceration in Malignant Atrophic Papulosis: A Case Report and Review of the Literature.","authors":"Matthew H Lanehart, Brooke Bertus, Patrick J Bacaj, Michael S Kolodney, Colleen J Beatty","doi":"10.1111/cup.14805","DOIUrl":"https://doi.org/10.1111/cup.14805","url":null,"abstract":"<p><p>Degos disease, or malignant atrophic papulosis (MAP), is a rare vasculopathic disorder that commonly involves the skin, gastrointestinal tract, and central nervous system. Diagnosis is made through recognition of characteristic histopathologic features of cutaneous lesions. Here, we report a 58-year-old male who initially presented with a penile eschar exhibiting vascular dilation, hyalinization of superficial dermal vessels, and hemosiderin deposition. Later, he developed scattered erythematous papules with central porcelain-white scarring; biopsies of these lesions exhibited features histopathologically consistent with MAP, including wedge-shaped necrosis extending from the epidermis into the deep dermis, dermal mucinosis, and vascular occlusion. Our patient subsequently developed multiple bowel perforations and ultimately succumbed to the disease. Recognition of various distinctive histopathologic features, including the diverse findings associated with penile ulceration, is important for prompt diagnosis and early initiation of treatment. As such, we review the clinicopathologic features reported in penile ulcerations among patients with MAP.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779731","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
Shifts in Cutaneous Melanocytic Tumor Diagnostic Terminology: Melanocytoma, MPATH-Dx V2.0 and the WHO Skin5. 皮肤黑色素细胞肿瘤诊断术语的转变:黑色素细胞瘤》、《MPATH-Dx V2.0》和《世界卫生组织皮肤5》。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-04-04 DOI: 10.1111/cup.14788
Lyn M Duncan, David E Elder, Michael W Piepkorn, Stevan R Knezevich, Willeke A M Blokx, Marcus Bosenberg, Klaus J Busam, Richard Carr, Martin G Cook, Pedram Gerami, Jennifer Ko, Gilles Landman, Alexander J Lazar, Lori Lowe, Daniela Mihic-Probst, Birgitta Schmidt, Christopher R Shea, Richard A Scolyer, Xiaowei Xu, Joann G Elmore, Raymond L Barnhill
{"title":"Shifts in Cutaneous Melanocytic Tumor Diagnostic Terminology: Melanocytoma, MPATH-Dx V2.0 and the WHO Skin5.","authors":"Lyn M Duncan, David E Elder, Michael W Piepkorn, Stevan R Knezevich, Willeke A M Blokx, Marcus Bosenberg, Klaus J Busam, Richard Carr, Martin G Cook, Pedram Gerami, Jennifer Ko, Gilles Landman, Alexander J Lazar, Lori Lowe, Daniela Mihic-Probst, Birgitta Schmidt, Christopher R Shea, Richard A Scolyer, Xiaowei Xu, Joann G Elmore, Raymond L Barnhill","doi":"10.1111/cup.14788","DOIUrl":"https://doi.org/10.1111/cup.14788","url":null,"abstract":"<p><p>In this Special Issue of the Journal of Cutaneous Pathology in memory of Dr. Martin C. Mihm, Jr, we highlight his many contributions over more than 50 years to the catalog of specific melanocytic tumor terminology. Dr. Mihm was an active participant in the International Melanoma Pathology Study Group (IMPSG). Discussions led to proposed recommendations for changes in the terminology of melanocytic tumors and their standardized diagnostic reporting. Histopathological reports of melanocytic tumors provide critical information that guides patient counseling and therapy. Importantly the pathology report must relay whether the melanocytic tumor is benign, intermediate, or malignant, and when appropriate, indicate diagnostic and/or prognostic uncertainty. Recent shifts in diagnostic terminology include the recommended use of the term \"melanocytoma\" to describe a morphologically and genetically defined subset of intermediate risk melanocytic tumors with higher (although still very low) risk of progression compared with benign nevi. Melanocytomas are distinguished from melanocytic tumors of uncertain malignant potential (MELTUMP) which are histopathologically indeterminate or uncertain tumors. In the setting of a broad lexicon for the reporting of melanocytic tumors, an assessment tool has been developed to map existing diverse terminologies into distinct hierarchical classes. The Melanocytic Pathology Assessment Tool and Hierarchy for Diagnosis (MPATH-Dx) V2.0 provides a four-tiered classification scheme that is tiered by risk of tumor progression and recommended treatment. The purpose of this review is to report these shifts in diagnostic terminology, discussed and reviewed at the annual workshop of the IMPSG, in Edinburg, Scotland, in November 2022. This discussion included the use of the term melanocytoma, and the use of the MPATH-Dx V2.0 classification and terminology for melanocytic tumors. Dr. Mihm was diligent in his attention to specific terminology, in his memory we aim to recommend terminology that improves communication in the care of those diagnosed with melanocytic tumors.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779894","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
Histopathologic Features in Vancomycin-Associated Drug-Induced Hypersensitivity Syndrome. 万古霉素相关药物致过敏综合征的组织病理学特征。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-03-25 DOI: 10.1111/cup.14804
Hannah B Haberecht, Rachel L Ziebart, Olivia C Iverson, Austin Todd, Mark D Davis, David A Wetter, Julio C Sartori-Valinotti, Hafsa M Cantwell, Marian T McEvoy, Nessa Aghazadeh Mohandesi, Afsaneh Alavi, Emma F Johnson
{"title":"Histopathologic Features in Vancomycin-Associated Drug-Induced Hypersensitivity Syndrome.","authors":"Hannah B Haberecht, Rachel L Ziebart, Olivia C Iverson, Austin Todd, Mark D Davis, David A Wetter, Julio C Sartori-Valinotti, Hafsa M Cantwell, Marian T McEvoy, Nessa Aghazadeh Mohandesi, Afsaneh Alavi, Emma F Johnson","doi":"10.1111/cup.14804","DOIUrl":"https://doi.org/10.1111/cup.14804","url":null,"abstract":"<p><strong>Background: </strong>Drug-induced hypersensitivity syndrome (DiHS), or drug reaction with eosinophilia and systemic symptoms (DRESS), is a delayed and severe immune response to certain medications. We investigated vancomycin-induced DiHS/DRESS, notable for frequent and severe organ involvement, to describe its specific histopathology and the correlations between histopathologic and clinical findings.</p><p><strong>Methods: </strong>A retrospective review was conducted to identify patients between 2006 and 2022 who received vancomycin, had archived skin biopsy specimens, and were scored as having probable or definite DiHS/DRESS. Clinical features were retrospectively collected, and biopsy specimens were reviewed by a board-certified dermatopathologist. A subset of histopathologic and clinical features was analyzed for statistical correlation.</p><p><strong>Results: </strong>Twenty-three patients met the inclusion criteria. Most biopsy specimens (87%) showed an eczematous reaction pattern; 17 (74%) showed a secondary reaction pattern. Spongiosis (87%) and neutrophilic infiltration (91%) were common epidermal characteristics. The dermal inflammatory infiltrate was frequently superficial (87%) and consistently included plasma cells (96%). Eosinophils were present in the dermis in 70% of cases. Parakeratosis negatively correlated with liver involvement and positively correlated with desquamative rash. Epidermal lymphocytes were negatively correlated with the RegiSCAR score.</p><p><strong>Conclusions: </strong>Vancomycin-associated DiHS/DRESS histopathology was characterized by a frequent eczematous reaction pattern, multiple coexisting reaction patterns, and epidermal neutrophilic infiltration.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700450","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 Fluoroscopy-Induced Subacute Radiation Dermatitis Histologically Mimicking Sclerodermiform Lupus: Immunohistochemical Analysis of Cytotoxic Memory T-Cell Markers. 1例荧光镜诱导的亚急性放射性皮炎组织学模拟硬皮样狼疮:细胞毒性记忆t细胞标记物的免疫组织化学分析。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-03-24 DOI: 10.1111/cup.14807
Vidya Medepalli, Timar A Mascio, Anthony Thompson, Marc Inglese, Pamela Padilla, Stephen Richardson, András Schaffer
{"title":"A Case of Fluoroscopy-Induced Subacute Radiation Dermatitis Histologically Mimicking Sclerodermiform Lupus: Immunohistochemical Analysis of Cytotoxic Memory T-Cell Markers.","authors":"Vidya Medepalli, Timar A Mascio, Anthony Thompson, Marc Inglese, Pamela Padilla, Stephen Richardson, András Schaffer","doi":"10.1111/cup.14807","DOIUrl":"https://doi.org/10.1111/cup.14807","url":null,"abstract":"<p><p>The histological hallmark of fluoroscopy-induced subacute radiation dermatitis (FISARD) is basovacuolar interface reaction with satellite cell necrosis mediated by CD8+ cytotoxic T-cells. Most published cases are described in patients who had a single interventional exposure. Here we report a case of FISARD in a 78-year-old man who underwent two cardiovascular interventions within 2 months. Biopsy of the skin lesion on his left back revealed not only epidermal cytotoxic interface activity with superficial perivascular dermatitis but also deep perivascular and interstitial dermal lymphoid infiltrates and dermal sclerosis, features overlapping with lupus and inflammatory morphea. Immunohistochemistry revealed intraepidermal and dermal expression of CD3, CD8, TIA-1, and CD45RA, likely corresponding to terminally differentiated effector memory cytotoxic T cells (TEMRA). In contrast, expression of CD57, a marker of late memory T-cells implicated in scleroderma pathogenesis, was absent in the epidermis but present in the dermis. This case adds to the spectrum of histopathologic findings of FISARD possibly related to the cumulative radiation injury from multiple fluoroscopic procedures. Given the increasing use of fluoroscopy, recognition of this histopathological pattern could aid in the timely and accurate diagnosis of this condition. A potential role of memory CD8+ T-cells in disease pathogenesis is discussed.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692318","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
Genomic and Transcriptomic Characterization of Protein Kinase C Fusion Melanocytic Neoplasms With Distinctive Hypopigmented Histomorphology: A Single-Institution Study. 蛋白激酶C融合黑色素细胞肿瘤具有独特的低色素组织形态的基因组学和转录组学特征:一项单机构研究。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-03-20 DOI: 10.1111/cup.14801
Aofei Li, Brandon Umphress, Carina Dehner, Ryan Jones, Keller Toral, Simon Warren, Ahmed K Alomari
{"title":"Genomic and Transcriptomic Characterization of Protein Kinase C Fusion Melanocytic Neoplasms With Distinctive Hypopigmented Histomorphology: A Single-Institution Study.","authors":"Aofei Li, Brandon Umphress, Carina Dehner, Ryan Jones, Keller Toral, Simon Warren, Ahmed K Alomari","doi":"10.1111/cup.14801","DOIUrl":"https://doi.org/10.1111/cup.14801","url":null,"abstract":"<p><strong>Background: </strong>Genomic fusions involving Protein Kinase C (PKC or PRKC) have been classically identified in a subset of melanocytic neoplasms with heavy melanin pigmentation as described in older series. They were recently reclassified from the pigmented epithelioid melanocytoma (PEM) category to the blue nevus (BN) category in the fifth edition of the World Health Organization (WHO) Classification of Skin Tumors.</p><p><strong>Methods: </strong>Herein, we report a series of eight mostly hypopigmented PRKC fusion melanocytic tumors with novel comprehensive molecular characterization. Clinical, histopathologic, and immunohistochemical findings were reviewed. Next-generation sequencing (NGS) data on genomic and transcriptomic levels were explored.</p><p><strong>Results: </strong>Histomorphology showed a biphasic pattern with hypercellular areas and hypocellular areas with dense fibrotic stroma and collagen trapping. The clinical courses were uncomplicated after excisions. NGS revealed three cases of PRKCB fusion and five cases of PRKCA fusions. RNA differential analysis against six blue nevi showed a group of genes with significantly higher transcription levels and strong enrichment in the direct p53 effectors gene set. PRKC fusion tumors also demonstrated significantly stronger p53 IHC staining.</p><p><strong>Conclusion: </strong>We further expand the morphologic spectrum of PRKC fusion melanocytic tumors and provide insight into their morphologic identification. Our novel transcriptome-level findings provide insight into the nuanced molecular events and new evidence for classification.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663622","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
Primary Cutaneous Neoplasm With Rhabdomyosarcomatous Differentiation and a Melanoma-Like Mutational Landscape. 原发性皮肤肿瘤伴横纹肌肉瘤分化和黑色素瘤样突变景观。
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-03-16 DOI: 10.1111/cup.14806
Maximillian A Weigelt, Shinoj Pattali, Josephine K Dermawan, Jennifer S Ko, Karen J Fritchie, Steven D Billings
{"title":"Primary Cutaneous Neoplasm With Rhabdomyosarcomatous Differentiation and a Melanoma-Like Mutational Landscape.","authors":"Maximillian A Weigelt, Shinoj Pattali, Josephine K Dermawan, Jennifer S Ko, Karen J Fritchie, Steven D Billings","doi":"10.1111/cup.14806","DOIUrl":"https://doi.org/10.1111/cup.14806","url":null,"abstract":"<p><p>Malignant melanoma (MM) is notorious for its wide range of morphologic variability. Rarely, MM may lose all melanocytic markers and adopt the morphologic and immunophenotypic characteristics of a different neoplasm in a process known as trans-differentiation (TMM). Distinguishing TMM from primary cutaneous neoplasms may be challenging and is often dependent on the identification of an adjacent conventional melanoma. In particularly difficult cases, molecular analysis may be helpful; TMMs are known to exhibit highly similar mutational landscapes to conventional melanomas (e.g., mutations in NF1, NRAS; variable BRAF V600E). Herein, we present an exceedingly rare case of likely TMM with rhabdomyosarcomatous differentiation in which high tumor mutational burden (TMB) was an important clue to the diagnosis. An 83-year-old woman presented with an 8.2 cm fungating mass on the upper arm. Biopsy revealed a sheet-like proliferation of mitotically active pleomorphic cells which were positive for myogenin/MyoD1 and negative for S100/SOX10. A diagnosis of epithelioid rhabdomyosarcoma was rendered. Subsequent axillary lymph node metastasis prompted whole exome sequencing, which revealed a molecular signature more indicative of MM, including: high TMB (19 mutations/Mb); ultraviolet mutational signature (i.e., preponderance of C>T base changes); TERT promoter mutation; and ARID2 mutation. After discussion at the interdisciplinary tumor board, a diagnosis of TMM was considered most likely, and the patient was initiated on pembrolizumab. Morphologic features more typical of MM than cutaneous sarcomas, such as tumor-infiltrating lymphocytes, junctional epidermal tumor nests, and satellitosis, may provide further clues to the accurate diagnosis of TMM, which has important prognostic and therapeutic implications for the patient.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639598","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 Cutaneous Vascular Neoplasm With an EWSR1-NFATC2 Translocation-Contributing to the Spectrum of Vascular Lesions Characterized by NFATC-Related Fusions.
IF 1.6 4区 医学
Journal of Cutaneous Pathology Pub Date : 2025-03-04 DOI: 10.1111/cup.14800
B Schurink, A M van Huizen, C D Savci-Heijink, E-J Kooi
{"title":"A Cutaneous Vascular Neoplasm With an EWSR1-NFATC2 Translocation-Contributing to the Spectrum of Vascular Lesions Characterized by NFATC-Related Fusions.","authors":"B Schurink, A M van Huizen, C D Savci-Heijink, E-J Kooi","doi":"10.1111/cup.14800","DOIUrl":"https://doi.org/10.1111/cup.14800","url":null,"abstract":"<p><p>Recently, a distinct subgroup of vascular neoplasms has been identified, characterized by NFATC-related fusions. Although existing literature is limited, these lesions histologically show a variable appearance with a tendency for local recurrence but not distant spread. Therefore, they likely fall within the \"benign\" or at most in the \"local aggressive\"/\"borderline\" tumor category according to the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme. Up to now, vascular tumors with NFATC-related fusions have only been documented in bone and occasionally soft tissue. We present a case of a woman with a \"difficult-to-diagnose\" multifocal cutaneous vascular neoplasm showing an EWSR1::NFATC2 translocation. To our knowledge, this is the first report on a vascular neoplasm with an EWSR1::NFATC2 translocation occurring in the skin.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556795","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
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