Michi M. Shinohara MD, Kerri E. Rieger MD, PhD, Uma Sundram MD, PhD, Maxwell A. Fung MD, Alexandra C. Hristov MD
The diagnosis of cutaneous T-cell lymphoma (CTCL) remains challenging. Demonstration of a clonal T-cell population using T-cell receptor (TCR) gene rearrangement studies by next-generation sequencing (NGS) has been explored in several studies. This review summarizes the current literature on NGS-based sequencing methods for the assessment of TCR clonality in the evaluation of atypical cutaneous lymphoid infiltrates and CTCL on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (lymphoproliferative subgroup). PubMed was searched for relevant articles, including CTCL and NGS, for clonality from 1967 to 2022. Thirteen studies were included in the analysis. The skin was the most commonly assayed compartment with TCR NGS. Sensitivity for TCR NGS in the skin ranged between 69% and 100%, compared to 44%–72% for polymerase chain reaction (PCR)-capillary electrophoresis. Specificity for TCR NGS in the skin ranged from 86% to 100%, compared to 77%–88% for PCR capillary electrophoresis. TCR NGS was also reported to have potential prognostic value in CTCL and can also be used to detect relapse and/or minimal residual disease after treatment.
{"title":"Assessing T-cell receptor clonality by next-generation sequencing in atypical cutaneous lymphoid infiltrates and cutaneous T-cell lymphoma: A scoping review","authors":"Michi M. Shinohara MD, Kerri E. Rieger MD, PhD, Uma Sundram MD, PhD, Maxwell A. Fung MD, Alexandra C. Hristov MD","doi":"10.1111/cup.14694","DOIUrl":"10.1111/cup.14694","url":null,"abstract":"<p>The diagnosis of cutaneous T-cell lymphoma (CTCL) remains challenging. Demonstration of a clonal T-cell population using T-cell receptor (<i>TCR</i>) gene rearrangement studies by next-generation sequencing (NGS) has been explored in several studies. This review summarizes the current literature on NGS-based sequencing methods for the assessment of TCR clonality in the evaluation of atypical cutaneous lymphoid infiltrates and CTCL on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (lymphoproliferative subgroup). PubMed was searched for relevant articles, including CTCL and NGS, for clonality from 1967 to 2022. Thirteen studies were included in the analysis. The skin was the most commonly assayed compartment with TCR NGS. Sensitivity for TCR NGS in the skin ranged between 69% and 100%, compared to 44%–72% for polymerase chain reaction (PCR)-capillary electrophoresis. Specificity for TCR NGS in the skin ranged from 86% to 100%, compared to 77%–88% for PCR capillary electrophoresis. TCR NGS was also reported to have potential prognostic value in CTCL and can also be used to detect relapse and/or minimal residual disease after treatment.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14694","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633588","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}
Myles R McCrary, Kate E Beekman, Carolina Strosberg, Leslie Turner, Eugene Sanik, Thomas M Beachkofsky
A 91-year-old man presented with a cutaneous left abdominal mass. The mass was longstanding (over 5 years) and slow-growing. Examination revealed a violaceous, multinodular, and exophytic non-tender mass surrounded by patchy erythema. Excisional biopsy was performed and revealed a nodular and cystic dermal proliferation of predominately basaloid cells with focal duct formation, surrounded by prominent hyalinized stroma. The superficial portion of the mass was identified as a nodulocystic hidradenoma. Along the deep aspect and in association with the benign hidradenoma, sheets of markedly atypical epithelioid cells invaded the surrounding tissue, consistent with malignant transformation. Perineural and lymphovascular invasion were seen among areas with anaplastic features. This case supports that some hidradenocarcinoma originates from benign counterparts, and as such, ample sampling is required to definitively exclude a more sinister diagnosis. Diagnostic, prognostic, histopathological, and molecular characteristics, and current knowledge limitations are briefly discussed.
{"title":"A rare case of hidradenocarcinoma with anaplastic and invasive features arising from a nodulocystic hidradenoma.","authors":"Myles R McCrary, Kate E Beekman, Carolina Strosberg, Leslie Turner, Eugene Sanik, Thomas M Beachkofsky","doi":"10.1111/cup.14686","DOIUrl":"https://doi.org/10.1111/cup.14686","url":null,"abstract":"<p><p>A 91-year-old man presented with a cutaneous left abdominal mass. The mass was longstanding (over 5 years) and slow-growing. Examination revealed a violaceous, multinodular, and exophytic non-tender mass surrounded by patchy erythema. Excisional biopsy was performed and revealed a nodular and cystic dermal proliferation of predominately basaloid cells with focal duct formation, surrounded by prominent hyalinized stroma. The superficial portion of the mass was identified as a nodulocystic hidradenoma. Along the deep aspect and in association with the benign hidradenoma, sheets of markedly atypical epithelioid cells invaded the surrounding tissue, consistent with malignant transformation. Perineural and lymphovascular invasion were seen among areas with anaplastic features. This case supports that some hidradenocarcinoma originates from benign counterparts, and as such, ample sampling is required to definitively exclude a more sinister diagnosis. Diagnostic, prognostic, histopathological, and molecular characteristics, and current knowledge limitations are briefly discussed.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633587","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}
Hélen Kaline Farias Bezerra, Gabriele Prospero Nakamura, Bruno Augusto Linhares Almeida Mariz, Rodrigo Nascimento Lopes, José Divaldo Prado, Ana Luiza Oliveira Corrêa Roza, Pablo Agustin Vargas
Cellular neurothekeoma (CN) is a benign dermal neoplasm that most often affects the head and neck region and rarely occurs in the oral mucosa. We report a rare case of CN with atypical features on the floor of the mouth and summarize the reported cases of oral CN in English-language literature. A 62-year-old woman presented with a 6-month history of a painless mass on the floor of the mouth. Histopathological analysis of the excised specimen revealed a proliferation of neoplastic cells with oval to spindle morphology arranged in a vaguely nested and multinodular architecture separated by scarce hyaline collagen within a predominantly myxoid-rich stroma. The tumor cells were positive for NSE, and CD63 (NKI/C3), and negative for S100 protein, CD34, and SMA. Thus, the final diagnosis was CN. In addition, we summarized all clinicopathological data on oral CNs reported in the English-language literature. Nineteen cases were reviewed. Among them, only one case affected the floor of the mouth of a young girl, in contrast to the present case that occurred in an elderly woman. CN is particularly rare in this location and may be a diagnostic challenge for oral pathologists due to its rarity and morphological similarity with other lesions.
{"title":"Atypical cellular neurothekeoma of the oral mucosa: A rare case report and literature review.","authors":"Hélen Kaline Farias Bezerra, Gabriele Prospero Nakamura, Bruno Augusto Linhares Almeida Mariz, Rodrigo Nascimento Lopes, José Divaldo Prado, Ana Luiza Oliveira Corrêa Roza, Pablo Agustin Vargas","doi":"10.1111/cup.14693","DOIUrl":"https://doi.org/10.1111/cup.14693","url":null,"abstract":"<p><p>Cellular neurothekeoma (CN) is a benign dermal neoplasm that most often affects the head and neck region and rarely occurs in the oral mucosa. We report a rare case of CN with atypical features on the floor of the mouth and summarize the reported cases of oral CN in English-language literature. A 62-year-old woman presented with a 6-month history of a painless mass on the floor of the mouth. Histopathological analysis of the excised specimen revealed a proliferation of neoplastic cells with oval to spindle morphology arranged in a vaguely nested and multinodular architecture separated by scarce hyaline collagen within a predominantly myxoid-rich stroma. The tumor cells were positive for NSE, and CD63 (NKI/C3), and negative for S100 protein, CD34, and SMA. Thus, the final diagnosis was CN. In addition, we summarized all clinicopathological data on oral CNs reported in the English-language literature. Nineteen cases were reviewed. Among them, only one case affected the floor of the mouth of a young girl, in contrast to the present case that occurred in an elderly woman. CN is particularly rare in this location and may be a diagnostic challenge for oral pathologists due to its rarity and morphological similarity with other lesions.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633589","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}
Joseph S Durgin, Carli P Whittington, Jane Harrell, Julie E Mervak, Emily H Smith
Pityriasis rosea is an acute, self-limited exanthem that typically occurs in adolescence and young adulthood, classically featuring ovoid erythematous and scaly lesions on the trunk and proximal extremities. While its cause is not definitively known, the classic form of pityriasis rosea may result from the reactivation of latent human herpesvirus (HHV) infections (HHV-6 and HHV-7). Interestingly, drug eruptions that clinically and/or histopathologically resemble pityriasis rosea have also been reported. These pityriasis rosea-like drug eruptions tend to occur at an older age and have a shorter duration than the classic type. As there are different management paradigms, the distinction between classic pityriasis rosea and the mimicking drug eruption is important to recognize. Herein, we report a case of a pityriasis rosea-like drug eruption that occurred in association with imatinib mesylate treatment for chronic myeloid leukemia. We also review the clinicopathologic features of reported cases of pityriasis rosea-like drug eruption, including those due to imatinib. While the clinical morphology of the cutaneous drug-related eruption mimics the lesions seen in classic pityriasis rosea, the presence of unique histopathologic findings, including necrotic keratinocytes, interface dermatitis, and eosinophils, may aid in distinction.
{"title":"Clinicopathologic features of pityriasis rosea-like drug eruption secondary to imatinib: A case report and review of the literature.","authors":"Joseph S Durgin, Carli P Whittington, Jane Harrell, Julie E Mervak, Emily H Smith","doi":"10.1111/cup.14692","DOIUrl":"https://doi.org/10.1111/cup.14692","url":null,"abstract":"<p><p>Pityriasis rosea is an acute, self-limited exanthem that typically occurs in adolescence and young adulthood, classically featuring ovoid erythematous and scaly lesions on the trunk and proximal extremities. While its cause is not definitively known, the classic form of pityriasis rosea may result from the reactivation of latent human herpesvirus (HHV) infections (HHV-6 and HHV-7). Interestingly, drug eruptions that clinically and/or histopathologically resemble pityriasis rosea have also been reported. These pityriasis rosea-like drug eruptions tend to occur at an older age and have a shorter duration than the classic type. As there are different management paradigms, the distinction between classic pityriasis rosea and the mimicking drug eruption is important to recognize. Herein, we report a case of a pityriasis rosea-like drug eruption that occurred in association with imatinib mesylate treatment for chronic myeloid leukemia. We also review the clinicopathologic features of reported cases of pityriasis rosea-like drug eruption, including those due to imatinib. While the clinical morphology of the cutaneous drug-related eruption mimics the lesions seen in classic pityriasis rosea, the presence of unique histopathologic findings, including necrotic keratinocytes, interface dermatitis, and eosinophils, may aid in distinction.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633590","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}