Pub Date : 2024-09-01Epub Date: 2024-06-28DOI: 10.1097/DAD.0000000000002772
Joyce M Chen, Enmily Hernandez, Denise Frosina, Peter A Ruh, Charlotte Ariyan, Klaus J Busam, Achim A Jungbluth
Abstract: Melanocyte differentiation antigens refer to molecules expressed in cells of melanocytic lineage such as gp100/PMEL, tyrosinase, and Melan-A. Corresponding antibodies such as HMB45, T311, and A103 have become key immunohistochemical tools in surgical pathology for the diagnosis of pigmented and related lesions. Little is known about tyrosinase-related protein 1 (TRP1), another melanocyte differentiation antigen, which is an enzymatic component of melanogenesis and known as the brown locus in mice. In this study, we tested several commercial reagents to TRP1 and identified one clone, EPR13063, which we further characterized by testing its specificity and usefulness for surgical pathology. Subsequently, we analyzed the expression of TRP1 in panels of normal tissues and tumors. TRP1 is regularly expressed in normal skin and in cutaneous nevi predominantly present in junctional and to a lesser extent in dermal nevocytes. In melanoma, TRP1 is present in 100% and 44% of primary and metastatic melanomas, respectively. TRP1 was absent in 5 desmoplastic melanomas but heterogeneously present in 9 of 11 PEComas/angiomyolipomas. No TRP1 was found in neoplasms of nonmelanocytic lineage. We demonstrate that EPR13063 is a valuable reagent for the analysis of TRP1 expression in archival surgical pathology material. The TRP1 expression pattern in melanocytic and related lesions appears to parallel other melanocyte differentiation antigens with a higher incidence in primary and a lower incidence in metastatic melanomas.
{"title":"In Situ Protein Expression Analysis of Melanocyte Differentiation Antigen TRP1 (Tyrosinase-Related Protein-1).","authors":"Joyce M Chen, Enmily Hernandez, Denise Frosina, Peter A Ruh, Charlotte Ariyan, Klaus J Busam, Achim A Jungbluth","doi":"10.1097/DAD.0000000000002772","DOIUrl":"10.1097/DAD.0000000000002772","url":null,"abstract":"<p><strong>Abstract: </strong>Melanocyte differentiation antigens refer to molecules expressed in cells of melanocytic lineage such as gp100/PMEL, tyrosinase, and Melan-A. Corresponding antibodies such as HMB45, T311, and A103 have become key immunohistochemical tools in surgical pathology for the diagnosis of pigmented and related lesions. Little is known about tyrosinase-related protein 1 (TRP1), another melanocyte differentiation antigen, which is an enzymatic component of melanogenesis and known as the brown locus in mice. In this study, we tested several commercial reagents to TRP1 and identified one clone, EPR13063, which we further characterized by testing its specificity and usefulness for surgical pathology. Subsequently, we analyzed the expression of TRP1 in panels of normal tissues and tumors. TRP1 is regularly expressed in normal skin and in cutaneous nevi predominantly present in junctional and to a lesser extent in dermal nevocytes. In melanoma, TRP1 is present in 100% and 44% of primary and metastatic melanomas, respectively. TRP1 was absent in 5 desmoplastic melanomas but heterogeneously present in 9 of 11 PEComas/angiomyolipomas. No TRP1 was found in neoplasms of nonmelanocytic lineage. We demonstrate that EPR13063 is a valuable reagent for the analysis of TRP1 expression in archival surgical pathology material. The TRP1 expression pattern in melanocytic and related lesions appears to parallel other melanocyte differentiation antigens with a higher incidence in primary and a lower incidence in metastatic melanomas.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621749","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}
Pub Date : 2024-09-01Epub Date: 2024-07-12DOI: 10.1097/DAD.0000000000002771
Brittany C Fields, Anish J Jain, Victor G Prieto, Spencer J Frink, Ashley M Holder
Abstract: A 45-year-old woman with a history of previously treated left plantar foot melanoma presented with a left thigh mass. Fine needle aspiration findings were concerning for metastatic melanoma (MM). Imaging was remarkable for PET-avidity of both the biopsied thigh mass and of a left posterior knee nodule. The knee nodule was also enhancing on MRI, concerning for a site of metastasis. Resection of the thigh mass and intra-articular nodule was performed. The thigh lesion was positive for MM. The specimen obtained from the knee demonstrated a proliferation of spindle and epithelioid cells associated with focal fibrosis and scattered giant cells with brown pigment, raising the possibility of melanoma metastasis with treatment effect. Additional immunohistochemical studies with anti-SOX10 failed to demonstrate melanoma cells in the lesion. The final diagnosis for the knee nodule was pigmented villonodular synovitis. This case highlights the potential for pigmented villonodular synovitis to mimic MM, requiring additional pathologic analysis to yield an accurate diagnosis.
摘要:一名 45 岁的女性患者曾患左脚足底黑色素瘤,并伴有左大腿肿块。细针穿刺结果显示为转移性黑色素瘤(MM)。影像学检查发现,活检的大腿肿块和左膝后部结节均呈正电子发射计算机断层显像(PET)阳性。膝关节结节在核磁共振成像中也呈增强状态,这与转移部位有关。对大腿肿块和关节内结节进行了切除。大腿病变呈 MM 阳性。膝关节标本显示,纺锤形细胞和上皮样细胞增生,伴有灶性纤维化和散在的巨细胞,并有棕色色素,这提高了治疗效果黑色素瘤转移的可能性。使用抗 SOX10 进行的其他免疫组化研究未能在病灶中发现黑色素瘤细胞。膝关节结节的最终诊断为色素性绒毛结节性滑膜炎。该病例强调了色素性绒毛膜滑膜炎有可能与黑色素瘤相似,需要进行更多的病理分析才能得出准确的诊断。
{"title":"Pigmented Villonodular Synovitis: A Metastatic Melanoma Imitator.","authors":"Brittany C Fields, Anish J Jain, Victor G Prieto, Spencer J Frink, Ashley M Holder","doi":"10.1097/DAD.0000000000002771","DOIUrl":"10.1097/DAD.0000000000002771","url":null,"abstract":"<p><strong>Abstract: </strong>A 45-year-old woman with a history of previously treated left plantar foot melanoma presented with a left thigh mass. Fine needle aspiration findings were concerning for metastatic melanoma (MM). Imaging was remarkable for PET-avidity of both the biopsied thigh mass and of a left posterior knee nodule. The knee nodule was also enhancing on MRI, concerning for a site of metastasis. Resection of the thigh mass and intra-articular nodule was performed. The thigh lesion was positive for MM. The specimen obtained from the knee demonstrated a proliferation of spindle and epithelioid cells associated with focal fibrosis and scattered giant cells with brown pigment, raising the possibility of melanoma metastasis with treatment effect. Additional immunohistochemical studies with anti-SOX10 failed to demonstrate melanoma cells in the lesion. The final diagnosis for the knee nodule was pigmented villonodular synovitis. This case highlights the potential for pigmented villonodular synovitis to mimic MM, requiring additional pathologic analysis to yield an accurate diagnosis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621753","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}
Pub Date : 2024-09-01Epub Date: 2024-06-20DOI: 10.1097/DAD.0000000000002770
Begoña Ruz Portero, Carmen García de Sola Llamas, Manuel Pérez Pérez, María Luisa Sánchez Bernal, David Moreno Ramírez, Juan José Ríos Martín
Abstract: We report a rare case of cellular schwannoma (CS) manifesting as an ulcerated nodular lesion, mimicking spindle cell melanoma on the sole of the foot. CS, a benign variant of schwannoma, typically occurs in deep soft tissues but can rarely present cutaneously. The diagnosis of CS heavily relies on histopathological examination and immunohistochemical staining for specific markers such as SOX10 and S100. In this case, initial clinical suspicion of nodular melanoma was confirmed on biopsy, which revealed a spindle cell neoplasm positive for SOX10 and negative for melanocytic markers. Misdiagnosis of nodular melanoma was averted through complete excision. CS diagnosis demands careful consideration due to its resemblance to other spindle cell neoplasms, especially melanoma. Meticulous histopathological evaluation and immunostaining are important to differentiate CS from similar lesions, ensuring accurate diagnosis and appropriate management. This report contributes valuable insights into the diagnostic challenges and management of CS, particularly in unusual cutaneous presentations.
{"title":"Cellular Schwannoma Mimicking a Nodular Melanoma on the Sole of the Foot, an Avoidable Diagnostic Pitfall.","authors":"Begoña Ruz Portero, Carmen García de Sola Llamas, Manuel Pérez Pérez, María Luisa Sánchez Bernal, David Moreno Ramírez, Juan José Ríos Martín","doi":"10.1097/DAD.0000000000002770","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002770","url":null,"abstract":"<p><strong>Abstract: </strong>We report a rare case of cellular schwannoma (CS) manifesting as an ulcerated nodular lesion, mimicking spindle cell melanoma on the sole of the foot. CS, a benign variant of schwannoma, typically occurs in deep soft tissues but can rarely present cutaneously. The diagnosis of CS heavily relies on histopathological examination and immunohistochemical staining for specific markers such as SOX10 and S100. In this case, initial clinical suspicion of nodular melanoma was confirmed on biopsy, which revealed a spindle cell neoplasm positive for SOX10 and negative for melanocytic markers. Misdiagnosis of nodular melanoma was averted through complete excision. CS diagnosis demands careful consideration due to its resemblance to other spindle cell neoplasms, especially melanoma. Meticulous histopathological evaluation and immunostaining are important to differentiate CS from similar lesions, ensuring accurate diagnosis and appropriate management. This report contributes valuable insights into the diagnostic challenges and management of CS, particularly in unusual cutaneous presentations.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989476","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}
Pub Date : 2024-09-01Epub Date: 2024-06-14DOI: 10.1097/DAD.0000000000002765
Cynthia M Magro, Scott Sanders
Abstract: Malignant atrophic papulosis/Köhlmeier-Degos disease was first described in 1941 by Köhlmeier in an anecdotal case report that described a young man who presented with extensive multiple intestinal perforations and a papular skin rash. Köhlmeier-Degos disease represents a unique vasculopathy targeting both the microvasculature and the arterial system. One of its most characteristic features is reflected by the discrete multifocal depressed porcelain lesions involving the skin and gastrointestinal tract. The pathological findings are striking and can be broadly categorized into those that are vascular in nature versus extravascular matrix production in the context of extensive extravascular hyaluronic acid and collagen deposition. A dynamic evolutionary morphology is observed not only clinically but also histologically. The microvascular alterations are particularly evident in the skin and are characterized by endothelial cell necrosis with subsequent endothelial cell detachment accompanied by intraluminal fibrin deposition, defining a thrombogenic microangiopathy that in later stage lesions is typically pauci-inflammatory. The arterial lesions are very distinctive and include significant neointimal proliferation with vascular luminal occlusion by amorphous plugs of collagen intimately admixed with platelets. Pathogenetically enhanced type I interferon signaling and endothelial cell injury mediated by the membranolytic attack complex (ie, C5b-9) are key in the evolution of the thrombotic microvascular and obliterative fibrosing arteriopathic changes. We describe a case of Köhlmeier-Degos disease that developed in the setting of tumor necrosis factor (TNF)-alpha inhibitor therapy with the drug golimumab. The clinical features, light microscopic findings, and a pathophysiologic paradigm based on the critical role of TNF-alpha in controlling the type I interferon response are discussed.
摘要:恶性萎缩性丘疹病/科尔迈耶-德戈斯病(Köhlmeier-Degos disease)是由科尔迈耶于 1941 年在一份轶事病例报告中首次描述的,该病例描述了一名年轻男子出现大面积多发性肠穿孔和丘疹性皮疹。科尔迈耶-德戈斯病是一种独特的血管病变,同时侵犯微血管和动脉系统。其最显著的特征之一是皮肤和胃肠道出现不连续的多灶性凹陷性瓷状病变。其病理结果非常显著,可大致分为血管性病变和血管外基质生成病变,前者是在血管外透明质酸和胶原广泛沉积的背景下发生的。不仅在临床上,在组织学上也能观察到动态的演变形态。微血管病变在皮肤上尤为明显,其特点是内皮细胞坏死,随后内皮细胞脱落,伴有管腔内纤维蛋白沉积,形成血栓性微血管病变,后期病变通常呈弱炎性。动脉病变非常明显,包括明显的新内膜增生,血管管腔被无定形的胶原栓塞堵塞,并与血小板密切混合。由膜溶解攻击复合体(即 C5b-9)介导的 I 型干扰素信号传导和内皮细胞损伤的病理增强是血栓性微血管和闭塞性纤维化动脉病变演变的关键。我们描述了一例在使用肿瘤坏死因子(TNF)-α 抑制剂药物戈利木单抗(golimumab)治疗的情况下出现的科尔迈耶-德戈斯病(Köhlmeier-Degos disease)。文中讨论了该病的临床特征、光学显微镜检查结果以及基于 TNF-α 在控制 I 型干扰素反应中的关键作用的病理生理学范式。
{"title":"Tumor necrosis factor ALPHA Inhibitor Associated Köhlmeier-Degos Disease as a Novel Iatrogenic Paradigm That Underscores Excessive Type I Interferon in Its Pathogenesis.","authors":"Cynthia M Magro, Scott Sanders","doi":"10.1097/DAD.0000000000002765","DOIUrl":"10.1097/DAD.0000000000002765","url":null,"abstract":"<p><strong>Abstract: </strong>Malignant atrophic papulosis/Köhlmeier-Degos disease was first described in 1941 by Köhlmeier in an anecdotal case report that described a young man who presented with extensive multiple intestinal perforations and a papular skin rash. Köhlmeier-Degos disease represents a unique vasculopathy targeting both the microvasculature and the arterial system. One of its most characteristic features is reflected by the discrete multifocal depressed porcelain lesions involving the skin and gastrointestinal tract. The pathological findings are striking and can be broadly categorized into those that are vascular in nature versus extravascular matrix production in the context of extensive extravascular hyaluronic acid and collagen deposition. A dynamic evolutionary morphology is observed not only clinically but also histologically. The microvascular alterations are particularly evident in the skin and are characterized by endothelial cell necrosis with subsequent endothelial cell detachment accompanied by intraluminal fibrin deposition, defining a thrombogenic microangiopathy that in later stage lesions is typically pauci-inflammatory. The arterial lesions are very distinctive and include significant neointimal proliferation with vascular luminal occlusion by amorphous plugs of collagen intimately admixed with platelets. Pathogenetically enhanced type I interferon signaling and endothelial cell injury mediated by the membranolytic attack complex (ie, C5b-9) are key in the evolution of the thrombotic microvascular and obliterative fibrosing arteriopathic changes. We describe a case of Köhlmeier-Degos disease that developed in the setting of tumor necrosis factor (TNF)-alpha inhibitor therapy with the drug golimumab. The clinical features, light microscopic findings, and a pathophysiologic paradigm based on the critical role of TNF-alpha in controlling the type I interferon response are discussed.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11328922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989481","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}
Pub Date : 2024-09-01Epub Date: 2024-03-08DOI: 10.1097/DAD.0000000000002654
Stan Miller, Travis Vandergriff, Heather Woodworth Goff, Jing Xu, Dwight Oliver
Abstract: PCR-based fragment analysis of the T-cell receptor (TCR) gene is used extensively in diagnostic labs to assess clonality in T-cell populations in multiple tissue sites. Of the numerous TCR assays that have been reported, studies assessing use on biopsies suspicious for mycosis fungoides specifically are lacking. We compared clonality findings from a previously run 2-tube/2-fluorochrome dye assay to a redesigned 1-tube/1-fluorochrome dye assay on formalin-fixed skin biopsies. Overall, the accuracy of the 2-tube assay was marginally better (75.7% vs. 71.4%), when using clinical history combined with histologic diagnosis as the gold standard. The 2-tube assay had better sensitivity (73.7% vs. 65.8%), while the 1-tube assay had superior specificity (93.8% vs. 87.5%). Clonality results were easier to interpret with the 1-tube assay. In nearly 19% of cases, a change of assays on the same biopsy resulted in a change of clonality interpretation. For laboratories that change TCR-γ clonality assays, follow-up biopsies for mycosis fungoides assessment may result in a change of diagnosis.
{"title":"Comparison of 2 T-Cell Receptor-γ Clonality Assays on Skin Biopsies Suspicious for Mycosis Fungoides.","authors":"Stan Miller, Travis Vandergriff, Heather Woodworth Goff, Jing Xu, Dwight Oliver","doi":"10.1097/DAD.0000000000002654","DOIUrl":"10.1097/DAD.0000000000002654","url":null,"abstract":"<p><strong>Abstract: </strong>PCR-based fragment analysis of the T-cell receptor (TCR) gene is used extensively in diagnostic labs to assess clonality in T-cell populations in multiple tissue sites. Of the numerous TCR assays that have been reported, studies assessing use on biopsies suspicious for mycosis fungoides specifically are lacking. We compared clonality findings from a previously run 2-tube/2-fluorochrome dye assay to a redesigned 1-tube/1-fluorochrome dye assay on formalin-fixed skin biopsies. Overall, the accuracy of the 2-tube assay was marginally better (75.7% vs. 71.4%), when using clinical history combined with histologic diagnosis as the gold standard. The 2-tube assay had better sensitivity (73.7% vs. 65.8%), while the 1-tube assay had superior specificity (93.8% vs. 87.5%). Clonality results were easier to interpret with the 1-tube assay. In nearly 19% of cases, a change of assays on the same biopsy resulted in a change of clonality interpretation. For laboratories that change TCR-γ clonality assays, follow-up biopsies for mycosis fungoides assessment may result in a change of diagnosis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140066109","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}
Pub Date : 2024-09-01Epub Date: 2024-06-06DOI: 10.1097/DAD.0000000000002767
Kevin Yang, Lawangeen Zeb, Sejong Bae, Peter G Pavlidakey
{"title":"Diagnostic Accuracy of ChatGPT for Textbook Descriptions of Epidermal Tumors: An Exploratory Study.","authors":"Kevin Yang, Lawangeen Zeb, Sejong Bae, Peter G Pavlidakey","doi":"10.1097/DAD.0000000000002767","DOIUrl":"10.1097/DAD.0000000000002767","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263065","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}
Pub Date : 2024-09-01Epub Date: 2024-06-06DOI: 10.1097/DAD.0000000000002746
Juliet Suen, Kiley K Fagan, Douglas J Grider
Abstract: Cutaneous malignant squamomelanocytic tumor (SMT) is a rare neoplasm comprising 2 distinct cell populations of squamous cell carcinoma and a second component of either benign or malignant melanocytes. SMT most often presents as a keratotic papule in areas of chronic sun exposure, typically on the head or neck of middle-aged and elderly-aged, White male patient populations. In recent years, there has been an increase in case reports, including a review article published in 2023, identifying a total of 37 cases published in the literature. There are only 3 reported cases in the literature with spindled or dendritic cells in the melanocytic component, as most have been of the epithelioid subtype. Despite the increasing prevalence, the origin and pathophysiology is poorly understood. We report 2 cases of SMT with dendritic melanocytes that are centered around a hair follicle, proposing the theory that these 2 distinct cell types may arise from the hair follicles.
{"title":"Two Squamomelanocytic Tumors With Dendritic Melanocytes: Thoughts About Origin.","authors":"Juliet Suen, Kiley K Fagan, Douglas J Grider","doi":"10.1097/DAD.0000000000002746","DOIUrl":"https://doi.org/10.1097/DAD.0000000000002746","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous malignant squamomelanocytic tumor (SMT) is a rare neoplasm comprising 2 distinct cell populations of squamous cell carcinoma and a second component of either benign or malignant melanocytes. SMT most often presents as a keratotic papule in areas of chronic sun exposure, typically on the head or neck of middle-aged and elderly-aged, White male patient populations. In recent years, there has been an increase in case reports, including a review article published in 2023, identifying a total of 37 cases published in the literature. There are only 3 reported cases in the literature with spindled or dendritic cells in the melanocytic component, as most have been of the epithelioid subtype. Despite the increasing prevalence, the origin and pathophysiology is poorly understood. We report 2 cases of SMT with dendritic melanocytes that are centered around a hair follicle, proposing the theory that these 2 distinct cell types may arise from the hair follicles.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989482","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}
Abstract: Pseudolymphomatous cutaneous angiosarcoma (cAS) is a rare subtype characterized by a prominent lymphocytic infiltrate, posing diagnostic challenges due to its resemblance to lymphoid neoplastic processes. We present a novel case highlighting the clinical and histopathological features, notably its association with persistent firm facial edema in a patient with systemic sclerosis (SSc). A 47-year-old woman with a 21-year history of SSc presented with firm palpebral edema evolving to involve the entire face and cervical region over six months. Diagnostic imaging revealed inflammatory changes in orbital regions, supradiaphragmatic lymphadenopathies, and lytic lesions. Skin biopsy demonstrated a diffuse neoplasm with vascular channels and solid areas, accompanied by dense lymphocytic proliferation. Pseudolymphomatous cutaneous angiosarcoma, a rare malignant neoplasm, exhibits variable clinical presentations and rapid progression. Histologically, it manifests as irregularly shaped vascular channels lined by prominent endothelial cells. Immunohistochemistry, particularly markers such as v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), aids in diagnosis. Notably, this case marks the first presentation of cAS with persistent facial edema in SSc, highlighting the association between SSc and cancer risk. This case underscores the diagnostic challenges posed by cAS and emphasizes the importance of early detection for optimal patient outcomes. Further understanding of its association with autoimmune disorders such as SSc is crucial for comprehensive management strategies.
摘要:假性淋巴瘤性皮肤血管肉瘤(cAS)是一种罕见的亚型,其特点是淋巴细胞浸润明显,由于与淋巴肿瘤过程相似,给诊断带来了挑战。我们介绍了一个新病例,该病例强调了其临床和组织病理学特征,尤其是它与一名系统性硬化症(SSc)患者面部持续性坚实水肿的关联。一名 47 岁的女性患者有 21 年的系统性硬化症病史,半年来出现睑结膜水肿,并逐渐累及整个面部和颈部。诊断性影像学检查发现眼眶部位有炎症性改变、膈上淋巴结病变和溶解性病变。皮肤活检显示肿瘤呈弥漫性,有血管通道和实变区,伴有密集的淋巴细胞增生。假性淋巴瘤性皮肤血管肉瘤是一种罕见的恶性肿瘤,临床表现各异,病情发展迅速。组织学上,它表现为由突出的内皮细胞衬托的形状不规则的血管通道。免疫组化,尤其是 v-ets 红细胞增多症病毒 E26 癌基因同源物(禽)(ERG)等标记物有助于诊断。值得注意的是,该病例是首次在 SSc 患者中出现伴有持续性面部水肿的 cAS 病例,突显了 SSc 与癌症风险之间的关联。该病例凸显了 cAS 在诊断方面的挑战,并强调了早期发现对患者获得最佳治疗效果的重要性。进一步了解它与 SSc 等自身免疫性疾病的关联对于制定全面的管理策略至关重要。
{"title":"Pseudolymphomatous Cutaneous Angiosarcoma Presenting With Persistent Firm Facial Edema in a Patient With Systemic Sclerosis.","authors":"Silvia Méndez-Flores, Marcela Saeb-Lima, Hilda Esther Fragoso-Loyo","doi":"10.1097/DAD.0000000000002740","DOIUrl":"10.1097/DAD.0000000000002740","url":null,"abstract":"<p><strong>Abstract: </strong>Pseudolymphomatous cutaneous angiosarcoma (cAS) is a rare subtype characterized by a prominent lymphocytic infiltrate, posing diagnostic challenges due to its resemblance to lymphoid neoplastic processes. We present a novel case highlighting the clinical and histopathological features, notably its association with persistent firm facial edema in a patient with systemic sclerosis (SSc). A 47-year-old woman with a 21-year history of SSc presented with firm palpebral edema evolving to involve the entire face and cervical region over six months. Diagnostic imaging revealed inflammatory changes in orbital regions, supradiaphragmatic lymphadenopathies, and lytic lesions. Skin biopsy demonstrated a diffuse neoplasm with vascular channels and solid areas, accompanied by dense lymphocytic proliferation. Pseudolymphomatous cutaneous angiosarcoma, a rare malignant neoplasm, exhibits variable clinical presentations and rapid progression. Histologically, it manifests as irregularly shaped vascular channels lined by prominent endothelial cells. Immunohistochemistry, particularly markers such as v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), aids in diagnosis. Notably, this case marks the first presentation of cAS with persistent facial edema in SSc, highlighting the association between SSc and cancer risk. This case underscores the diagnostic challenges posed by cAS and emphasizes the importance of early detection for optimal patient outcomes. Further understanding of its association with autoimmune disorders such as SSc is crucial for comprehensive management strategies.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263195","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}
Pub Date : 2024-09-01Epub Date: 2024-06-06DOI: 10.1097/DAD.0000000000002739
Sarah G McAlpine, Osward Y Carrasquillo, Jayson Miedema, Paul B Googe
Abstract: Cutaneous sarcomatoid squamous cell carcinoma is well-described with histology resembling pleomorphic undifferentiated sarcoma featuring collagenous or myxoid stroma with or without elements of keratinizing squamous carcinoma. This report presents 2 cases of dedifferentiated squamous cell carcinoma (SCC) composed of sheets of malignant mononuclear cells with malignant osteoclast-like multinucleated giant cells, extravasated blood, and hemosiderin resembling cutaneous giant cell tumor (cGCT). In the first case, an exophytic facial mass of a 96-year-old woman removed by shave showing extensive cGCT-like tumor but with microscopic elements of SCC in situ and positivity for cytokeratin 5/6 in the malignant spindle cells and SCC. The second case involved a 32-year-old man with a pedunculated penile mass removed by shave biopsy, displaying malignant cytology resembling cGCT, focal staining for cytokeratin AE1/AE3 and p63, and CD68 highlighting the osteoclast-like giant cells. Molecular analysis revealed CDKN2A, TP53, and TERT. Upon reexcision, case 2 showed focally invasive keratinizing SCC associated with differentiated penile intraepithelial neoplasia and lichen sclerosus. Skin specimens with an exophytic mass histologically resembling cGCT but with malignant cytology should be meticulously evaluated for elements of SCC. Molecular analysis, detecting mutations like H3F3 or HMGA2-NCOR2 fusion, can aid in distinguishing cutaneous sarcomatoid squamous cell carcinoma from GCT bone or GCT soft tissue.
{"title":"Two Cases of Cutaneous Sarcomatoid Squamous Cell Carcinoma Resembling Cutaneous Giant Cell Tumor of Soft Tissue.","authors":"Sarah G McAlpine, Osward Y Carrasquillo, Jayson Miedema, Paul B Googe","doi":"10.1097/DAD.0000000000002739","DOIUrl":"10.1097/DAD.0000000000002739","url":null,"abstract":"<p><strong>Abstract: </strong>Cutaneous sarcomatoid squamous cell carcinoma is well-described with histology resembling pleomorphic undifferentiated sarcoma featuring collagenous or myxoid stroma with or without elements of keratinizing squamous carcinoma. This report presents 2 cases of dedifferentiated squamous cell carcinoma (SCC) composed of sheets of malignant mononuclear cells with malignant osteoclast-like multinucleated giant cells, extravasated blood, and hemosiderin resembling cutaneous giant cell tumor (cGCT). In the first case, an exophytic facial mass of a 96-year-old woman removed by shave showing extensive cGCT-like tumor but with microscopic elements of SCC in situ and positivity for cytokeratin 5/6 in the malignant spindle cells and SCC. The second case involved a 32-year-old man with a pedunculated penile mass removed by shave biopsy, displaying malignant cytology resembling cGCT, focal staining for cytokeratin AE1/AE3 and p63, and CD68 highlighting the osteoclast-like giant cells. Molecular analysis revealed CDKN2A, TP53, and TERT. Upon reexcision, case 2 showed focally invasive keratinizing SCC associated with differentiated penile intraepithelial neoplasia and lichen sclerosus. Skin specimens with an exophytic mass histologically resembling cGCT but with malignant cytology should be meticulously evaluated for elements of SCC. Molecular analysis, detecting mutations like H3F3 or HMGA2-NCOR2 fusion, can aid in distinguishing cutaneous sarcomatoid squamous cell carcinoma from GCT bone or GCT soft tissue.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263208","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}