Serena J. Shimshak MD, Sion Jasmine MD, Mark D. P. Davis MD, Emma F. Johnson MD, Margot S. Peters MD, Gang Zheng MD, PhD, Olayemi Sokumbi MD, Nneka I. Comfere MD
Histiocytoid Sweet syndrome (H-SS) is a histopathological variant of Sweet syndrome (SS) defined by cutaneous infiltration of immature myeloid cells morphologically resembling histiocytes. The association of H-SS with underlying malignancy, particularly myelodysplastic syndromes, is well-established. Myelodysplasia cutis (MDS-cutis) has been proposed to describe cases historically diagnosed as H-SS but characterized by shared clonality of the myeloid infiltrate in skin and bone marrow. Therefore, identifying patients who might have MDS-cutis is critical for the management of the associated hematologic malignancy. VEXAS syndrome, an adult-onset autoinflammatory disease, should also be included in the histopathologic differential diagnosis of H-SS, as it shares clinical and pathologic features with MDS-cutis. Through the presentation of two cases, we aim to highlight the defining features and key clinical implications of MDS-cutis and VEXAS syndrome.
{"title":"Myelodysplasia cutis and VEXAS syndrome initially diagnosed as histiocytoid Sweet syndrome: A diagnostic pitfall","authors":"Serena J. Shimshak MD, Sion Jasmine MD, Mark D. P. Davis MD, Emma F. Johnson MD, Margot S. Peters MD, Gang Zheng MD, PhD, Olayemi Sokumbi MD, Nneka I. Comfere MD","doi":"10.1111/cup.14678","DOIUrl":"10.1111/cup.14678","url":null,"abstract":"<p>Histiocytoid Sweet syndrome (H-SS) is a histopathological variant of Sweet syndrome (SS) defined by cutaneous infiltration of immature myeloid cells morphologically resembling histiocytes. The association of H-SS with underlying malignancy, particularly myelodysplastic syndromes, is well-established. Myelodysplasia cutis (MDS-cutis) has been proposed to describe cases historically diagnosed as H-SS but characterized by shared clonality of the myeloid infiltrate in skin and bone marrow. Therefore, identifying patients who might have MDS-cutis is critical for the management of the associated hematologic malignancy. VEXAS syndrome, an adult-onset autoinflammatory disease, should also be included in the histopathologic differential diagnosis of H-SS, as it shares clinical and pathologic features with MDS-cutis. Through the presentation of two cases, we aim to highlight the defining features and key clinical implications of MDS-cutis and VEXAS syndrome.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590393","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}
Jessica F. Williams, Fabienne M. Lucas, Ruben D. Carrasco, Scott B. Lovitch, David C. Fisher, Thomas S. Kupper, Sam Sadigh
Posttransplantation primary cutaneous T-cell lymphomas (PT-CTCL) are a rare complication of sustained immunosuppression in the posttransplant setting. When present, PT-CTCLs are typically EBV− and exhibit features of mycosis fungoides/Sézary syndrome or CD30+ lymphoproliferative disorders. We present a case of a 75-year-old individual who developed skin lesions 30 years after liver transplantation. Pathologic evaluation of the skin biopsy revealed involvement by a clonal, EBV+ T-cell population of gamma/delta lineage with no evidence of systemic disease. Comprehensive genomic profiling was performed, confirming focal one-copy loss of 6q23.3, altogether consistent with the extremely rare and unusual diagnosis of primary cutaneous EBV+ extranodal NK/T-cell lymphoma of gamma/delta T-cell lineage in the posttransplantation setting.
{"title":"Primary cutaneous EBV+ extranodal NK/T-cell lymphoma of gamma/delta T-cell lineage in the posttransplantation setting","authors":"Jessica F. Williams, Fabienne M. Lucas, Ruben D. Carrasco, Scott B. Lovitch, David C. Fisher, Thomas S. Kupper, Sam Sadigh","doi":"10.1111/cup.14677","DOIUrl":"10.1111/cup.14677","url":null,"abstract":"<p>Posttransplantation primary cutaneous T-cell lymphomas (PT-CTCL) are a rare complication of sustained immunosuppression in the posttransplant setting. When present, PT-CTCLs are typically EBV− and exhibit features of mycosis fungoides/Sézary syndrome or CD30+ lymphoproliferative disorders. We present a case of a 75-year-old individual who developed skin lesions 30 years after liver transplantation. Pathologic evaluation of the skin biopsy revealed involvement by a clonal, EBV+ T-cell population of gamma/delta lineage with no evidence of systemic disease. Comprehensive genomic profiling was performed, confirming focal one-copy loss of 6q23.3, altogether consistent with the extremely rare and unusual diagnosis of primary cutaneous EBV+ extranodal NK/T-cell lymphoma of gamma/delta T-cell lineage in the posttransplantation setting.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579796","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}
Xiao Cheng MD, Jian Wang MD, PhD, Rong Fang PhD, Jiayun Xu MS, Suying Wang MD, Ming Zhao MD
PRRX1-fused mesenchymal neoplasm is a recently identified, rare subcutaneous soft tissue neoplasm that is characterized by fusion of PRRX1 (exon 1) with NCOA1 (exon 13) in the majority of reported cases. Although initially considered to be fibroblastic, a possibility of neural or neuroectodermal differentiation has been suggested in a subset of cases. We report a 26-year-old female with a 4.0 cm painless mass located in the subcutis of the left thigh. Microscopically, the tumor was well-circumscribed and multinodular and was composed of relatively monomorphic ovoid to spindle cells arranged in loose fascicles, trabeculae, and cords within alternating myxoid and fibrous matrix, and vascularized stroma. Mitotic figures were scarce and necrosis was not observed. By immunohistochemistry, the neoplastic cells demonstrated focal co-expression of S100 protein and SOX10 and were negative for epithelial membrane antigen, smooth muscle actin, desmin, CD34, STAT6, HMB45, Melan-A, and MUC4. The expression of Rb1 was retained. Targeted RNA-sequencing identified a novel transcript fusion of PRRX1 (exon 1)::NCOA1 (exon 15), which was further confirmed by reverse transcription polymerase chain reaction and Sanger sequencing. The tumor was narrowly excised and no tumor recurrence or metastasis was identified after 13 months of follow-up. In summary, we report a new case of PRRX1-fused mesenchymal neoplasm, expanding the molecular genetic spectrum and providing further support for possible neural or neuroectodermal differentiation of this emerging soft tissue tumor entity.
{"title":"PRRX1-fused mesenchymal neoplasm: A novel PRRX1::NCOA1 fusion transcript","authors":"Xiao Cheng MD, Jian Wang MD, PhD, Rong Fang PhD, Jiayun Xu MS, Suying Wang MD, Ming Zhao MD","doi":"10.1111/cup.14683","DOIUrl":"10.1111/cup.14683","url":null,"abstract":"<p><i>PRRX1</i>-fused mesenchymal neoplasm is a recently identified, rare subcutaneous soft tissue neoplasm that is characterized by fusion of <i>PRRX1</i> (exon 1) with <i>NCOA1</i> (exon 13) in the majority of reported cases. Although initially considered to be fibroblastic, a possibility of neural or neuroectodermal differentiation has been suggested in a subset of cases. We report a 26-year-old female with a 4.0 cm painless mass located in the subcutis of the left thigh. Microscopically, the tumor was well-circumscribed and multinodular and was composed of relatively monomorphic ovoid to spindle cells arranged in loose fascicles, trabeculae, and cords within alternating myxoid and fibrous matrix, and vascularized stroma. Mitotic figures were scarce and necrosis was not observed. By immunohistochemistry, the neoplastic cells demonstrated focal co-expression of S100 protein and SOX10 and were negative for epithelial membrane antigen, smooth muscle actin, desmin, CD34, STAT6, HMB45, Melan-A, and MUC4. The expression of Rb1 was retained. Targeted RNA-sequencing identified a novel transcript fusion of <i>PRRX1</i> (exon 1)::<i>NCOA1</i> (exon 15), which was further confirmed by reverse transcription polymerase chain reaction and Sanger sequencing. The tumor was narrowly excised and no tumor recurrence or metastasis was identified after 13 months of follow-up. In summary, we report a new case of <i>PRRX1</i>-fused mesenchymal neoplasm, expanding the molecular genetic spectrum and providing further support for possible neural or neuroectodermal differentiation of this emerging soft tissue tumor entity.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579797","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}
Puneet K. Bhullar MD, Kiran Motaparthi MD, Daniel P. Zieman MD, Cassandra Johnson DO, Pooja Gurnani MD, Olayemi Sokumbi MD
Chimeric antigen receptor (CAR) T-cell therapy has demonstrated remarkable success in treating various B-cell malignancies, redirecting T-cell cytotoxicity toward cancer cells. Despite its efficacy, CAR-T therapy is associated with potential risks, including cytokine release syndrome (CRS) and cytopenia. We present a case of a 69-year-old man with diffuse large B-cell lymphoma treated with axicabtagene-ciloleucel CAR-T therapy, who developed a rare and severe cutaneous toxicity resembling toxic epidermal necrolysis (TEN). The patient exhibited persistent fevers, CRS, and subsequent development of a widespread erythematous macular eruption, progressing to vesiculation with bullae. Notably, allopurinol-induced TEN was considered with the patient's recent exposure to allopurinol, although the onset and minimal mucosal involvement did not align with typical presentations of allopurinol-induced cases. The cutaneous reaction, distinct from typical SJS/TEN, showed minimal mucosal involvement and coincided with the cytokine release storm, differing from allopurinol-induced TEN. Despite the absence of guidelines, the patient was managed with systemic steroids, achieving significant improvement. This case expands the spectrum of CAR-T therapy-related cutaneous toxicities, highlighting the need for early recognition of histopathology and tailored management by dermatologists. Further understanding of these reactions is crucial for optimizing the safety profile of this groundbreaking immunotherapy.
嵌合抗原受体(CAR)T 细胞疗法在治疗各种 B 细胞恶性肿瘤方面取得了显著的成功,它能将 T 细胞的细胞毒性重新导向癌细胞。尽管 CAR-T 疗法疗效显著,但也存在潜在风险,包括细胞因子释放综合征(CRS)和全血细胞减少症。我们报告了一例 69 岁男性弥漫大 B 细胞淋巴瘤患者接受阿昔单抗-伊洛琉醇 CAR-T 疗法治疗后出现类似中毒性表皮坏死(TEN)的罕见严重皮肤毒性的病例。患者表现出持续发热、CRS,随后出现广泛的红斑性糜烂,并发展为水疱。值得注意的是,患者最近接触过别嘌呤醇,因此被认为是别嘌呤醇诱发的 TEN,尽管其发病和最小的粘膜受累与别嘌呤醇诱发病例的典型表现并不一致。皮肤反应有别于典型的SJS/TEN,粘膜受累程度极低,且与细胞因子释放风暴同时发生,与别嘌呤醇诱发的TEN不同。尽管没有相关指南,但患者还是接受了全身类固醇治疗,病情得到了明显改善。该病例扩大了CAR-T疗法相关皮肤毒性的范围,强调了皮肤科医生早期识别组织病理学并进行针对性治疗的必要性。进一步了解这些反应对于优化这种突破性免疫疗法的安全性至关重要。
{"title":"Toxic epidermal necrolysis-like cutaneous toxicity following chimeric antigen receptor T-cell therapy in recurrent large B-cell lymphoma","authors":"Puneet K. Bhullar MD, Kiran Motaparthi MD, Daniel P. Zieman MD, Cassandra Johnson DO, Pooja Gurnani MD, Olayemi Sokumbi MD","doi":"10.1111/cup.14687","DOIUrl":"10.1111/cup.14687","url":null,"abstract":"<p>Chimeric antigen receptor (CAR) T-cell therapy has demonstrated remarkable success in treating various B-cell malignancies, redirecting T-cell cytotoxicity toward cancer cells. Despite its efficacy, CAR-T therapy is associated with potential risks, including cytokine release syndrome (CRS) and cytopenia. We present a case of a 69-year-old man with diffuse large B-cell lymphoma treated with axicabtagene-ciloleucel CAR-T therapy, who developed a rare and severe cutaneous toxicity resembling toxic epidermal necrolysis (TEN). The patient exhibited persistent fevers, CRS, and subsequent development of a widespread erythematous macular eruption, progressing to vesiculation with bullae. Notably, allopurinol-induced TEN was considered with the patient's recent exposure to allopurinol, although the onset and minimal mucosal involvement did not align with typical presentations of allopurinol-induced cases. The cutaneous reaction, distinct from typical SJS/TEN, showed minimal mucosal involvement and coincided with the cytokine release storm, differing from allopurinol-induced TEN. Despite the absence of guidelines, the patient was managed with systemic steroids, achieving significant improvement. This case expands the spectrum of CAR-T therapy-related cutaneous toxicities, highlighting the need for early recognition of histopathology and tailored management by dermatologists. Further understanding of these reactions is crucial for optimizing the safety profile of this groundbreaking immunotherapy.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563532","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}
Zacaria Jr. B. Pario, Ma Flordeliz Abad-Casintahan, Jonnie Rose Louise R. Wee, Melissa Rinne V. See, Karen Andrea D. Cadacio
Cutaneous metastasis is rare but may indicate an advanced internal malignancy or a recurrence of a previously treated one and is usually associated with a poor prognosis. They may also pose a diagnostic problem as the clinical manifestations are variable and non-specific, which could mimic other benign conditions. We report a case of a 48-year-old female who presented with a 4-year history of erythematous papules and vesicles on the trunk mimicking lymphangioma circumscriptum. Skin biopsy and immunohistochemistry were consistent with cutaneous metastasis from breast carcinoma. Cutaneous metastasis presents in a variety of patterns. A high index of suspicion and a low threshold for skin biopsy are paramount to the early diagnosis and treatment. A histopathologic evaluation will help identify the origin of the cutaneous metastasis and can significantly affect the outcome of the treatment.
{"title":"A rare form of metastatic breast carcinoma mimicking lymphangioma circumscriptum","authors":"Zacaria Jr. B. Pario, Ma Flordeliz Abad-Casintahan, Jonnie Rose Louise R. Wee, Melissa Rinne V. See, Karen Andrea D. Cadacio","doi":"10.1111/cup.14688","DOIUrl":"10.1111/cup.14688","url":null,"abstract":"<p>Cutaneous metastasis is rare but may indicate an advanced internal malignancy or a recurrence of a previously treated one and is usually associated with a poor prognosis. They may also pose a diagnostic problem as the clinical manifestations are variable and non-specific, which could mimic other benign conditions. We report a case of a 48-year-old female who presented with a 4-year history of erythematous papules and vesicles on the trunk mimicking lymphangioma circumscriptum. Skin biopsy and immunohistochemistry were consistent with cutaneous metastasis from breast carcinoma. Cutaneous metastasis presents in a variety of patterns. A high index of suspicion and a low threshold for skin biopsy are paramount to the early diagnosis and treatment. A histopathologic evaluation will help identify the origin of the cutaneous metastasis and can significantly affect the outcome of the treatment.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563531","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}