American Journal of Dermatopathology最新文献

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Evaluating the Diagnostic Concordance of MyPath Melanoma Assay and PRAME Immunohistochemistry in Challenging Melanocytic Lesions. 评估MyPath黑色素瘤检测和PRAME免疫组织化学在挑战性黑色素细胞病变中的诊断一致性。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-28 DOI: 10.1097/DAD.0000000000003018
Aayushma Regmi, Ourania Parra, Weijie Ma, Robert E LeBlanc, Aravindhan Sriharan, Shabnam Momtahen, Jeffrey M Cloutier, Shaofeng Yan, Konstantinos Linos
{"title":"Evaluating the Diagnostic Concordance of MyPath Melanoma Assay and PRAME Immunohistochemistry in Challenging Melanocytic Lesions.","authors":"Aayushma Regmi, Ourania Parra, Weijie Ma, Robert E LeBlanc, Aravindhan Sriharan, Shabnam Momtahen, Jeffrey M Cloutier, Shaofeng Yan, Konstantinos Linos","doi":"10.1097/DAD.0000000000003018","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003018","url":null,"abstract":"<p><strong>Background: </strong>The 23-gene expression signature (GES) assay (myPath Melanoma) is a well-established molecular test for analyzing challenging melanocytic lesions, alongside fluorescence in situ hybridization (FISH) and single nucleotide polymorphism (SNP) array. However, routine use of these tests is often limited by high costs, long turnaround times, significant tissue requirements, and limited accessibility. This study aimed to evaluate the diagnostic concordance of PRAME immunohistochemistry (IHC) and the GES assay in difficult melanocytic lesions to determine whether PRAME IHC, widely available in pathology laboratories, could serve as a surrogate for GES. In addition, we correlated these methods with SNP array and FISH analyses, where available, to assess their diagnostic value in challenging melanocytic lesions.</p><p><strong>Methods: </strong>We conducted a single-institution retrospective analysis of 56 diagnostically ambiguous melanocytic lesions that underwent ancillary GES testing. All 56 cases were evaluated for PRAME IHC, while 35 had FISH results, 16 had SNP array results, and 3 had both FISH and SNP results. Two board-certified dermatopathologists independently reviewed hematoxylin and eosin (H&E)-stained slides, PRAME IHC slides, and other available immunostains, along with GES results, FISH, and/or SNP array results, classifying each lesion as benign or malignant.</p><p><strong>Results: </strong>Fifty-six cutaneous melanocytic lesions with challenging histopathologic features were evaluated. Diagnostically ambiguous categories included dysplastic nevi versus melanoma (29 cases, 51.8%), spitzoid lesions (19 cases, 33.9%), nevoid lesions (7 cases, 12.5%), and blue nevus-like lesions (1 case, 1.8%). Of these, 38 cases (67.9%) were ultimately classified as benign, while 18 cases (32.1%) were classified as malignant.PRAME IHC showed a significant association with malignancy, with an 83.9% concordance rate (χ2 = 21.37, P = 0.0001), accurately classifying 47 out of 56 cases. GES demonstrated an 82.1% concordance rate (χ2 = 18.68, P = 0.0001), accurately classifying 46 out of 56 cases. FISH showed a 77.1% agreement with the final diagnosis (χ2 = 7.63, P = 0.005), correctly categorizing 27 out of 35 cases. Although the number of cases were relatively small, SNP array analysis correctly identified all 16 cases (χ2 = 16, P = 0.0001).</p><p><strong>Conclusions: </strong>This study supports PRAME IHC as a useful surrogate for the GES assay in the evaluation of challenging melanocytic lesions. PRAME IHC offers a cost-efficient, accessible, and practical ancillary tool that can be rapidly integrated into routine clinical practice for diagnostically ambiguous melanocytic lesions.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977558","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
CRTC1::TRIM11 Cutaneous Tumor Mimicking Primary Dermal Melanoma: Case Report With Literature Review. CRTC1::TRIM11皮肤肿瘤模拟原发性皮肤黑色素瘤:1例报告并文献复习。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-26 DOI: 10.1097/DAD.0000000000003108
Ikuko Hirai, Joanna L Walker, Adam I Rubin, Emily Y Chu, Rosalie Elenitsas
{"title":"CRTC1::TRIM11 Cutaneous Tumor Mimicking Primary Dermal Melanoma: Case Report With Literature Review.","authors":"Ikuko Hirai, Joanna L Walker, Adam I Rubin, Emily Y Chu, Rosalie Elenitsas","doi":"10.1097/DAD.0000000000003108","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003108","url":null,"abstract":"<p><strong>Abstract: </strong>CRTC1::TRIM11 cutaneous tumor (CTCT) is a newly identified dermal amelanotic tumor that shows epithelioid to spindle cell morphology with melanocytic differentiation and harbors an in-frame translocation, CRTC1::TRIM11. Given the limited number of reported cases describing its biologic behavior, it is crucial to distinguish this entity from histopathologic mimics, including clear cell sarcoma and metastatic or primary dermal melanoma. Herein, we report a 39-year-old woman with CTCT on the left leg histopathologically mimicking dermal melanoma. The patient developed a tender nodule on the left lateral malleolus 1 year before presentation, which enlarged gradually. A punch biopsy from the lesion and subsequent excision demonstrated a dense spindle cell tumor in the dermis. There were fascicles of achromic spindle cells, some of which showed mildly enlarged nuclei. A mitotic rate of 4/mm2 was noted. The lesional cells were diffusely positive with SOX10 and MITF, with rare S100 and HMB45 staining. Melan-A, pan cytokeratin, p63, and smooth muscle actin were negative. With detection of CRTC1::TRIM11 by next-generation sequencing and lack of CCS-associated cytogenetic translocations, a diagnosis of CTCT was established. She was treated with Mohs micrographic surgery. No metastasis or local recurrence has been found in the 22 months since treatment. Although CTCT was once thought to behave more indolently than melanoma or clear cell sarcoma, recent reports with long-term follow-up detail occurrence of regional and/or distant metastases. Further studies on treatment and follow-up management strategy are warranted.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977571","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
Myxoinflammatory Fibroblastic Sarcoma, Nodular-Necrotizing Variant With Two YAP1::MAML2 Fusions and TRIM24::BRAF Fusion. 黏液炎性纤维母细胞肉瘤,结节性坏死性变异体,两种YAP1::MAML2融合和TRIM24::BRAF融合。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-18 DOI: 10.1097/DAD.0000000000003107
Kim Harnisch, Beata Bode, Obinna Chijioke, Ivana Bratic Hench, Dmitry V Kazakov
{"title":"Myxoinflammatory Fibroblastic Sarcoma, Nodular-Necrotizing Variant With Two YAP1::MAML2 Fusions and TRIM24::BRAF Fusion.","authors":"Kim Harnisch, Beata Bode, Obinna Chijioke, Ivana Bratic Hench, Dmitry V Kazakov","doi":"10.1097/DAD.0000000000003107","DOIUrl":"10.1097/DAD.0000000000003107","url":null,"abstract":"<p><p>Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare malignant soft tissue neoplasm typically found in the distal extremities of middle-aged adults. Histologically, MIFS presents with a myxoid stroma, a mixed inflammatory infiltrate, epithelioid/spindle cells resembling virocytes, pseudolipoblasts, and emperipolesis. Genetic alterations commonly include TGFBR3-MGEA5 rearrangements and VGLL3 amplifications. Recently, YAP1::MAML2 fusions have been identified in nodular necrotizing variants of MIFS. We report a case of a 40-year-old man presenting with right thumb pain initially suspected to be tendovaginitis. Histopathologic examination revealed a variably cellular proliferation in a fibrosclerotic-myxoid stroma with epithelioid cells displaying vesicular nuclei, spindle cells, and inflammatory infiltrates. Focal extensive necrosis was present. Immunohistochemical analysis was negative for SOX10, S100, SMA, desmin, MDM2, ALK, and CD20. Molecular genetic testing identified 2 variants of YAP1::MAML2 gene fusions and an additional TRIM24::BRAF fusion. Although BRAF rearrangements have previously been reported in MIFS, identification of TRIM24 as a fusion partner represents a novel finding. The presence of YAP1::MAML2 fusions, especially in combination with a TRIM24::BRAF fusion, has not been previously described in MIFS. TRIM24 is a transcriptional coregulator involved in p53 ubiquitination and tumorigenesis. The TRIM24::BRAF fusion has been detected in various malignancies, suggesting its potential oncogenic role. This case underscores the genetic heterogeneity of MIFS and suggests the need for further studies to elucidate the clinical implications of these molecular alterations. This report expands the molecular spectrum of MIFS and highlights the diagnostic utility of advanced sequencing technologies in identifying rare gene fusions. The TRIM24::BRAF fusion may represent a potential therapeutic target, warranting further investigation.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876687","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 Anaplastic Large Cell Lymphoma with Locoregional Lymph Node Involvement: Challenges in Diagnosis and Clinical Management. 原发性皮肤间变性大细胞淋巴瘤伴局部淋巴结受累:诊断和临床处理的挑战。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-14 DOI: 10.1097/DAD.0000000000003103
Mar Garcia-Garcia, Ana Leticia Tardin Cardoso, Ignacio Sancho Val, Alejandro Lapeña Casado, Ignacio Hernández-Aragüés, Lucía Prieto-Torres
{"title":"Primary Cutaneous Anaplastic Large Cell Lymphoma with Locoregional Lymph Node Involvement: Challenges in Diagnosis and Clinical Management.","authors":"Mar Garcia-Garcia, Ana Leticia Tardin Cardoso, Ignacio Sancho Val, Alejandro Lapeña Casado, Ignacio Hernández-Aragüés, Lucía Prieto-Torres","doi":"10.1097/DAD.0000000000003103","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003103","url":null,"abstract":"<p><strong>Abstract: </strong>Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) belongs to the group of primary cutaneous CD30-positive lymphoproliferative disorders. Its diagnosis requires a multidisciplinary approach, integrating clinical, histopathological, and immunohistochemical findings. Although extracutaneous spread is uncommon in PC-ALCL, locoregional lymph node involvement may occur and can pose significant diagnostic challenges, particularly in distinguishing PC-ALCL from systemic ALCL with secondary skin involvement. PC-ALCL has predilection for the head and neck area, whereas systemic ALCL tend to show more disseminated disease. ALK1 might help in the differential between ALK-positive systemic ALCL and ALK-negative systemic ALCL, but other molecular studies such as DUSP22 and TP63 rearrangement do not aid in the differential diagnosis between PC-ALCL and ALK-negative systemic ALCL. Here, we add 2 new cases of PC-ALCL with nodal disease to the 8 cases previously reported, including one during pregnancy. Both cases presented with a solitary lesion and ipsilateral axillary lymph node involvement. Histological and immunophenotypic features were consistent across skin and lymph node biopsies and supported the diagnosis of primary cutaneous origin and were managed with brentuximab vedotin-based chemotherapy, with favorable clinical responses. We emphasize the importance of thorough clinical staging and histopathological correlation to establish the correct diagnosis and the optimal treatment for cases like ours.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856969","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
Cutaneous Clues to Widespread Disease: A Rare Case of Pulmonary and Cutaneous Cryptococcosis. 广泛疾病的皮肤线索:一例罕见的肺和皮肤隐球菌病。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-12 DOI: 10.1097/DAD.0000000000003102
Madison Gerahian, Ogechukwu Opaigbeogu, Carole Bitar
{"title":"Cutaneous Clues to Widespread Disease: A Rare Case of Pulmonary and Cutaneous Cryptococcosis.","authors":"Madison Gerahian, Ogechukwu Opaigbeogu, Carole Bitar","doi":"10.1097/DAD.0000000000003102","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003102","url":null,"abstract":"","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144823168","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
Solitary Cutaneous Xanthogranuloma With DNMT3A Mutation Arising Postallogenic Transplant in a Patient With T-Cell Acute Lymphoblastic Leukemia. t细胞急性淋巴细胞白血病患者同种异体移植后出现的单发皮肤黄色肉芽肿伴DNMT3A突变
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-08-05 DOI: 10.1097/DAD.0000000000003095
Julia A Rinck, Wyatt Boothby-Shoemaker, Ben J Friedman
{"title":"Solitary Cutaneous Xanthogranuloma With DNMT3A Mutation Arising Postallogenic Transplant in a Patient With T-Cell Acute Lymphoblastic Leukemia.","authors":"Julia A Rinck, Wyatt Boothby-Shoemaker, Ben J Friedman","doi":"10.1097/DAD.0000000000003095","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003095","url":null,"abstract":"<p><strong>Abstract: </strong>The development of a mature histiocytic neoplasm after an immature lymphoproliferative disorder is rare but well documented. Previous studies have demonstrated clonal relationships between these entities-often through T- and B-cell receptor clonality analyses-supporting the concept of transdifferentiation. We report a unique case of a solitary, subtle xanthogranuloma identified during routine comprehensive skin examination in a patient with a history of T-cell acute lymphoblastic lymphoma, postallogeneic stem cell transplant. Next-generation sequencing of the skin lesion revealed the presence of a DNMT3A mutation identical to that found in the patient's prior lymphoma, despite the patient being in both morphologic and molecular remission in the peripheral blood and bone marrow. This case underscores the importance of vigilant surveillance and highlights a potential mechanistic link through clonal evolution or transdifferentiation.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785905","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 CD4+ Small/Medium-Sized T-Cell Lymphoproliferative Disorder: A Retrospective Cohort Study of 40 Adult Patients. 原发性皮肤CD4+小/中型t细胞淋巴增生性疾病:40例成人患者的回顾性队列研究
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-07-31 DOI: 10.1097/DAD.0000000000002981
Xing Li, Cynthia M Magro
{"title":"Primary Cutaneous CD4+ Small/Medium-Sized T-Cell Lymphoproliferative Disorder: A Retrospective Cohort Study of 40 Adult Patients.","authors":"Xing Li, Cynthia M Magro","doi":"10.1097/DAD.0000000000002981","DOIUrl":"10.1097/DAD.0000000000002981","url":null,"abstract":"<p><strong>Abstract: </strong>Primary cutaneous CD4+ small/medium-sized T-cell lymphoproliferative disorder (CD4+ PCSM-LPD) is distinguished from other peripheral T-cell lymphomas, particularly multifocal variants, by its indolent clinical behavior and favorable prognosis. Recent studies have suggested a T follicular helper (TFH) cell origin for these lesions; however, further studies are warranted to substantiate this hypothesis and clarify their pathogenesis. A retrospective review was conducted of all adult cases of CD4+ PCSM-LPD diagnosed at Weill Cornell Medicine between 2018 and 2024. The aim of this study was to evaluate the clinical, pathological, and molecular characteristics of these cases, with a specific focus on exploring the hypothesis of a follicular helper T-cell origin in CD4+ PCSM-LPD. Forty patients (26 men, 14 women) were encountered (age 25-83 years at presentation). Except for 1 oligolesional case, all others presented with solitary lesions, most frequently involving the head and neck region (26 of 37 cases, 72.2%). Treatment included surgical excision or radiation alone, with 1 lesion resolving spontaneously following the initial biopsy. Recurrence occurred only in 1 oligolesional case. All cases displayed characteristic histopathology of CD4+ PCSM-LPD. Varying positivity for nonspecific TFH markers (PD-1, BCL-6 and ICOS) was observed; both PD1 and ICOS can be expressed by activated T cells. Specific markers, CD10 and CXCL13, were predominantly negative the staining profile of CD4+ PCSM-LPD therefore suggests a partially developed TFH phenotype, reflecting the dynamic acquisition of these markers by neoplastic T cells in a conducive monocyte derived CD11c dendritic cell enriched microenvironment. Light chain restriction for plasma cells was observed in a qaurter of the cases and reflects the role of plasma cells as a countercheck population controlling follicular helper T cell expansion. Finally the lack of a follicular helper T cell phenotype in select cases that are otherwise typical for CD4+ PCSM-LPD should not exclude the diagnosis.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":"47 9","pages":"657-673"},"PeriodicalIF":1.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12360188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144876691","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
Histopathologic Characteristics of Vitiligo-Like Macules in Scleroderma: A Case Report and Review of the Literature. 硬皮病中白癜风样斑的组织病理学特征:1例报告及文献复习。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-07-31 DOI: 10.1097/DAD.0000000000003097
Anagha Thiagarajan, Beverly Yu, Hadas Skupsky
{"title":"Histopathologic Characteristics of Vitiligo-Like Macules in Scleroderma: A Case Report and Review of the Literature.","authors":"Anagha Thiagarajan, Beverly Yu, Hadas Skupsky","doi":"10.1097/DAD.0000000000003097","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003097","url":null,"abstract":"<p><strong>Abstract: </strong>Scleroderma, or systemic sclerosis, is an autoimmune connective tissue disorder characterized by vascular dysfunction, immune dysregulation, and fibrosis. Salt-and-pepper pigmentation is a cutaneous manifestation that can mimic vitiligo and thus pose a diagnostic challenge for clinicians. We present a case of a 40-year-old woman with a known history of scleroderma presenting with hypopigmented macules on the lower extremities. Biopsy revealed absent junctional melanocytes through MART1 and SOX10 stains, diminished periadnexal and periadventitial fat in the superficial dermis, and diminished CD34-positive dermal dendrocytes in the papillary and superficial reticular dermis, which collectively supported the diagnosis of a cutaneous manifestation of scleroderma rather than vitiligo. A literature review was conducted using PubMed, Google Scholar, and Scopus and identified 5 existing reports detailing histopathologic findings of salt-and-pepper pigmentation in scleroderma. These findings were compared with histopathologic features observed in the presented case. This case report and review is the first to highlight absent or reduced melanocytes through immunohistochemistry staining and diminished CD34-positive dermal dendrocytes in histopathologic evaluation of this pigmentation pattern, alongside serologic testing of scleroderma. This methodology enhances diagnostic ability, which can aid in early recognition and significantly affect quality of life and prognosis. Further research is still needed to elucidate molecular mechanisms underlying these pigmentary changes, which may bolster early detection strategies. It may also be prudent to include scleroderma in the differential diagnosis alongside vitiligo when evaluating hypopigmented lesions.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762233","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
Palisaded Neutrophilic and Granulomatous Dermatitis Associated With ASXL1-Mutated Chronic Myelomonocytic Leukemia: A Case Report and Literature Review. 与asxl1突变的慢性粒细胞白血病相关的栅栏性中性粒细胞和肉芽肿性皮炎:1例报告和文献复习。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-07-31 DOI: 10.1097/DAD.0000000000003087
Ibrahim Elsharawi, Ryan DeCoste, Natalie Cunningham, Tanya Gillan, Sylvia Pasternak
{"title":"Palisaded Neutrophilic and Granulomatous Dermatitis Associated With ASXL1-Mutated Chronic Myelomonocytic Leukemia: A Case Report and Literature Review.","authors":"Ibrahim Elsharawi, Ryan DeCoste, Natalie Cunningham, Tanya Gillan, Sylvia Pasternak","doi":"10.1097/DAD.0000000000003087","DOIUrl":"https://doi.org/10.1097/DAD.0000000000003087","url":null,"abstract":"<p><strong>Abstract: </strong>Palisaded neutrophilic and granulomatous dermatitis (PNGD) is a relatively rare histopathologic reaction pattern that has been associated with several underlying conditions including rheumatoid arthritis, connective tissue disorders, certain drugs, and hematologic malignancies, particularly chronic myelomonocytic leukemia (CMML). CMML shows features of a myeloproliferative neoplasm and myelodysplastic syndrome. The diagnosis can be supported by identifying an acquired clonal molecular abnormality, most commonly involving TET2, SRSF2, ASXL1, RUNX1, NRAS, or CBL. Rare previous reports have highlighted the association between PNGD and SRSF2-mutated CMML. In this study, we report the first known case of PNGD-associated ASXL1-mutated CMML without a coexistent SRSF2 variant.</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762236","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
The Morphologic Spectrum of NF Mutated Desmoplastic Melanocytic Neoplasms. NF突变的促结缔组织增生黑色素细胞瘤的形态学谱。
IF 1 4区 医学
American Journal of Dermatopathology Pub Date : 2025-07-25 DOI: 10.1097/DAD.0000000000003056
Afua Konadu Addo, Haya Mary Beydoun, Julia Edwin Jeyakumar, Shantel Olivares, Klaus J Busam, Pedram Gerami
{"title":"The Morphologic Spectrum of NF Mutated Desmoplastic Melanocytic Neoplasms.","authors":"Afua Konadu Addo, Haya Mary Beydoun, Julia Edwin Jeyakumar, Shantel Olivares, Klaus J Busam, Pedram Gerami","doi":"10.1097/DAD.0000000000003056","DOIUrl":"10.1097/DAD.0000000000003056","url":null,"abstract":"<p><strong>Abstract: </strong>Next generation sequencing is rapidly being integrated into diagnostic skin pathology. Critical components of this integration are studies to assist with the bioinformatic interpretation of genetic data. In this study, we characterize the morphologic and genomic spectrum of NF mutated desmoplastic melanomas (DMs) and compare them with DMs lacking pathogenic variants in NF and to NF mutated desmoplastic nevi. Relative to non- NF mutated DMs, NF mutated DMs were less likely to have an associated melanoma in situ (35% vs. 47%), less likely to have an epithelioid component (35% vs. 59%), and more likely to have prominent pigmentation (35% vs. 12%). Two distinct morphologic patterns were exclusive to the NF mutated subgroup, which included a pigmented DM mimicking blue nevi and a neurofibroma-like pattern of DM. The most common NF mutation in both specific morphologic subtypes was a truncating NF1 variant (4 of 8 and 6 of 8, respectively). Relative to NF mutated desmoplastic nevi, NF mutated DMs were more likely to have truncating variants in NF1 , had a higher TMB (57.3 vs. 9.9, P < 0.05), and a higher number of pathogenic variants (19 vs. 3, P < 0.05). Pathogenic variants in p-TERT and TP53 were exclusive to the NF mutated DMs. Alternatively, truncating variants in NF2 were mostly seen in the NF -inactivated clonal nevus. We provide the first ever description including the genomic and morphologic features of this novel combined pattern nevus typically involving an activating mutation in BRAF or other oncogene accompanied by a truncating mutation in NF2 .</p>","PeriodicalId":50967,"journal":{"name":"American Journal of Dermatopathology","volume":" ","pages":"692-698"},"PeriodicalIF":1.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790657","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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