Journal of Cutaneous Pathology最新文献

{"title":"An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not?","authors":"Sven van der Woude,&nbsp;J. S. Klein Wassink-Ruiter,&nbsp;Joost Kluiver,&nbsp;Marthe de Jonge,&nbsp;Gilles F. H. Diercks","doi":"10.1111/cup.14730","DOIUrl":"10.1111/cup.14730","url":null,"abstract":"<p>Melanocytic tumors are a diverse group of lesions and are traditionally classified based on a combination of clinical presentation as well as histological examination. More recently, molecular diagnostics has become an increasingly important part of differentiating different melanocytic lesions in the current WHO standards. This molecular testing, however, can result in unexpected findings. In this report, we describe that molecular testing of a clinical atypical melanocytic lesion showed a mutation in the <i>MAP2K1</i> gene as well as an unexpected germline mutation in <i>PTPN11</i>, indicative of Noonan syndrome. Based on these findings we concluded that the patient had a <i>MAP2K1</i> associated melanocytic lesion with Noonan syndrome as an incidental finding. Melanomas are classically not associated with Noonan syndrome. However, we hypothesized that the germline mutations of PTPN11 and the somatic second hit mutation in the <i>MAP2K1</i> genes might be involved in the formation of the aforementioned lesion. As they are both part of the RAS-MAPK pathway. Furthermore, with the expansion of molecular diagnostics in melanomas, we expect to find an increase in unexpected (germline) mutations.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 1","pages":"20-23"},"PeriodicalIF":1.6,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14730","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400353","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}

{"title":"The Association of Interleukin-36 Staining Intensity and Response to Biologic Therapy in Patients With Psoriasis: A Retrospective Immunohistochemical and Chart Review Pilot Study","authors":"William R. Zhang,&nbsp;Tina Bhutani,&nbsp;Jeffrey P. North","doi":"10.1111/cup.14729","DOIUrl":"10.1111/cup.14729","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There are limited surrogate biomarkers to identify the active inflammatory pathway in psoriasis to direct treatment with targeted biologic therapies. We investigated the association of interleukin (IL)-36 epidermal expression, a diagnostic marker of psoriasis, with response to biologic therapy in patients with psoriasis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospective immunohistochemical and chart review pilot study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients with psoriasis with low (scores 0–2) vs. high (scores 3–4) IL-36 expression did not have significantly different response rates to tumor necrosis factor α (TNFα), IL-17, and IL-12/23 or IL-23 inhibitors; and similarly, mean IL-36 expression scores did not significantly differ among responders vs. non-responders to each treatment mechanism. However, in patients with psoriasis treated with IL-12/23 or IL-23 inhibitors, there was a marked absolute difference in response rates in those with high vs. low IL-36 (84% vs. 50%, <i>p</i> = 0.12) and in mean IL-36 scores in responders vs. non-responders (3.35 vs. 2.57, <i>p</i> = 0.19).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Patients with psoriasis with high IL-36 expression were more likely to respond to IL-12/23 and IL-23 inhibition than those with low IL-36, though these findings were not statistically significant. Additional studies with larger sample sizes are needed to validate and expand upon these findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 1","pages":"48-53"},"PeriodicalIF":1.6,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390923","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}

{"title":"Acquired Perforating Dermatosis After Herpes Zoster: Wolf Isotopic Response","authors":"Xiao H. Du,&nbsp;Su Y. Huang,&nbsp;Xiao F. Zeng,&nbsp;Si J. Lu,&nbsp;Zhe Gao","doi":"10.1111/cup.14728","DOIUrl":"10.1111/cup.14728","url":null,"abstract":"<div>\u0000 \u0000 <p>Wolf isotopic response (WIR) is a phenomenon in which a second, unrelated skin disease arises at the same site as a previously healed dermatosis. WIR most commonly occurs in healed herpes zoster but has also been described in other conditions, such as herpes simplex virus, varicella-zoster virus, and skin tumors. Acquired perforating dermatosis (APD) is characterized by transepidermal elimination of collagen bundles that lead to the development of ulcerative papules, which are often associated with systemic conditions such as diabetes or renal failure. This report documents a rare occurrence of APD after WIR and reviews related published works.</p>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 1","pages":"16-19"},"PeriodicalIF":1.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365408","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}

{"title":"Evaluation of Multiple Tissue Levels Frequently Upstages Patients With Clinically Localized Thin Primary Cutaneous Melanoma.","authors":"Louise A Jackett, James P Gullifer, Richard A Scolyer","doi":"10.1111/cup.14726","DOIUrl":"https://doi.org/10.1111/cup.14726","url":null,"abstract":"<p><strong>Background: </strong>Breslow thickness (BT), ulceration, and microsatellitosis are critical prognostic parameters for cutaneous melanoma staging. These parameters can vary depending on the number of tissue levels examined from individual paraffin blocks. We sought to evaluate all prognostic histopathologic parameters in melanoma for their variations between levels, taken at regular intervals, in a single study.</p><p><strong>Methods: </strong>We analyzed 40 consecutive cases of primary cutaneous (nonacral) melanoma through five hematoxylin and eosin sections, taken at 100 μm intervals, for staging and prognostic parameters.</p><p><strong>Results: </strong>Examination of additional levels resulted in (a) an increase in BT in 47.5% (19 out of 40) of cases and (b) detection of ulceration in a further 5% (2/40). This resulted in upstaging for 20% (8 out of 40) of patients (15% because of BT, 2.5% because of ulceration, and 2.5% because of BT and ulceration). The upstaging effect was incremental, with approximately 5% of patients upstaged with each additional 100 μm interval (up to 400 μm). Incipient ulceration and epidermal consumption were infrequent (10% of cases); however, when present, ulceration was subsequently observed in half of cases. We encountered no cases where microsatellitosis was detected at deeper levels.</p><p><strong>Conclusion: </strong>The performance of additional tissue levels is a simple and inexpensive procedure that can improve the accuracy of staging for patients with thin (pT1) primary cutaneous melanomas. It may be pertinent for pathologists to consider additional levels for thin melanomas when a BT measurement is close to a staging threshold (e.g., within 0.1-0.3 mm for pT1a vs. pT1b, or pT1b vs. pT2a), or when incipient ulceration is encountered.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365409","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}

{"title":"The Prognostic Significance of Tumoral Melanosis.","authors":"Alison J Potter, Peter M Ferguson, Serigne N Lo, Tasnia Ahmed, Robert V Rawson, John F Thompson, Georgina V Long, Richard A Scolyer","doi":"10.1111/cup.14727","DOIUrl":"https://doi.org/10.1111/cup.14727","url":null,"abstract":"<p><strong>Background: </strong>Tumoral melanosis (TM) is a histological term to describe a nodular aggregation of macrophages containing melanin pigment (melanophages) that is devoid of viable melanocytes. It is most often identified in skin, where it may be appreciated clinically as a pigmented lesion; however, it can also be found in other organs such as lymph nodes. The presence of TM is usually thought to signify the presence of a regressed melanoma or other pigmented tumor. Until recently, it was a relatively uncommon finding; however, with the use of effective systemic therapies against melanoma, its occurrence in histological specimens is more frequent.</p><p><strong>Methods: </strong>We identified and reviewed all histopathological diagnoses of TM at any organ site reported at a single institution from 2006 to 2018. TM cases were paired with non-TM cases of cutaneous melanoma through propensity score matching at a 1:2 ratio, and their survival outcomes were compared. The clinical outcomes examined included recurrence-free survival (RFS), distant disease-free survival (DDFS), melanoma-specific survival (MSS), and overall survival (OS).</p><p><strong>Results: </strong>TM was reported in 79 patients. Their median age was 65 years (range 22-88), with a 2:1 male predominance (51 out of 79, 65%). The most common organ involved was the skin (67%), with a third of all cases localized to a lower limb (36%). TM had a strong association with the presence of melanoma (91%) and regression at other sites of melanoma (54%), suggesting that it is part of a systemic immune response against melanoma. Most patients with TM either previously or subsequently developed histologically confirmed melanoma in the same anatomical region as the TM (89%). Thirty-five TM patients were matched with 70 non-TM cases. Patients with melanoma who developed TM without prior regional or systemic therapy showed improved MSS (p = 0.03), whereas no statistically significant differences were observed in terms of RFS, DDFS, and OS.</p><p><strong>Conclusions: </strong>TM usually occurs in the context of a previous or subsequent cutaneous melanoma and is associated with improved MSS. It is important that TM is recognized by pathologists and documented in pathology reports.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365410","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}

{"title":"Incidental detection of non-melanoma neoplasms in sentinel lymph node biopsy for melanoma staging: A retrospective case series","authors":"Meghana Agni MD,&nbsp;Eleonora Fiorletta Quiroga MD,&nbsp;Mirjana Stevanovic BS,&nbsp;Girish Venkataraman MD,&nbsp;Sara C. Shalin MD, PhD","doi":"10.1111/cup.14725","DOIUrl":"10.1111/cup.14725","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Patients with malignant melanoma have an increased risk of developing secondary hematologic malignancy, and patients with hematologic malignancies have an increased risk of developing melanoma. Rarely, sentinel lymph node biopsies (SLNBs) collected for melanoma staging might harbor lymphoma or even carcinoma, which may represent a second primary malignancy (SPM). Biopsied lymph node(s) might serve as the first site of recognition for a SPM. Yet, there has been little systematic investigation regarding the characteristics of incidental SPMs detected on SLNB for melanoma staging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A series of cases of lymphomas and carcinomas were detected incidentally during SLNB for melanoma staging from two tertiary academic centers between 2000 and 2021.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifteen cases of incidentally detected SPMs were reviewed, comprising 12 lymphomas and three carcinomas. The most common incidentally detected second malignancy was chronic lymphocytic leukemia/small lymphocytic lymphoma (60%, 9/15). There were three cases of incidentally detected metastatic carcinoma. Of all incidentally detected malignancies, 2/3 carcinomas and 4/12 lymphomas represented first-time diagnoses of SPM in a melanoma patient. Forty percent of cases (6/15) also harbored metastatic melanoma in the sentinel lymph node.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>It is possible to incidentally detect SPMs in SLNBs for melanoma staging. Early detection of SPMs in melanoma patients has implications for the treatment of both incidental SPM and melanoma.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"1000-1007"},"PeriodicalIF":1.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347479","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}

{"title":"Marty's last publication: A giant human being with a passion to cure children.","authors":"David E Fisher","doi":"10.1111/cup.14716","DOIUrl":"10.1111/cup.14716","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347480","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}

{"title":"Incidental acantholysis in a case of bullous pemphigoid—A diagnostic quandary","authors":"Meenakshi Batrani,&nbsp; Arshdeep,&nbsp;Asha Kubba,&nbsp;Raj Kubba","doi":"10.1111/cup.14724","DOIUrl":"10.1111/cup.14724","url":null,"abstract":"","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 4","pages":"259-261"},"PeriodicalIF":1.6,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307763","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}

{"title":"Primary cutaneous cribriform tumor: A case report and literature review","authors":"Doukou Jiang,&nbsp;Yongzhen Tian,&nbsp;Jiabin Tian,&nbsp;Hui Liu,&nbsp;Yang Guan","doi":"10.1111/cup.14723","DOIUrl":"10.1111/cup.14723","url":null,"abstract":"<p>In the updated 5th edition of the WHO Classification of Skin Tumors, primary cutaneous cribriform carcinoma has been renamed cribriform tumor. This entity is a rare sweat gland neoplasm with undetermined malignant potential, with only 46 cases reported to date. Herein, we present a case of a 30-year-old female with a solitary nodule in the left thigh subcutaneous tissue. Histopathological examination revealed a well-defined dermal nodule composed of monomorphic, deeply staining cells arranged in solid nests, tubular, and cribriform patterns, with no recurrence or distant metastasis observed during a 1-year follow-up. Summarizing all 47 cases, they exhibited consistent, reproducible histological morphology and similar immunohistochemistry. Although the tumor nests lacked myoepithelial cells peripherally, all cleanly excised cases showed no recurrence or distant metastasis, suggesting a benign biological behavior. We argue against overtreatment.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 1","pages":"9-15"},"PeriodicalIF":1.6,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307764","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}

{"title":"Diagnostic utility of direct immunofluorescence test panels for cutaneous vasculitis: A scoping review","authors":"Julia S. Lehman MD,&nbsp;Tammie C. Ferringer MD,&nbsp;Maxwell A. Fung MD,&nbsp;David S. Cassarino MD, PhD,&nbsp;Sara C. Shalin MD","doi":"10.1111/cup.14722","DOIUrl":"10.1111/cup.14722","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Due to the immune-mediated nature of non-infectious cutaneous vasculitis, skin biopsy specimens are often submitted for direct immunofluorescence (DIF) testing when vasculitis is considered clinically. However, evidence regarding the clinical value of DIF has not been rigorously appraised.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In this scoping review, we aimed to systematically evaluate the peer-reviewed literature on the utility of DIF in vasculitis to assist with the development of appropriate use criteria by the American Society of Dermatopathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two electronic databases were searched for articles on DIF and vasculitis (January 1975–October 2023). Relevant case series involving more than or equal to three patients, published in English, and with full-text availability were included. Additional articles were identified manually via reference review. Due to study heterogeneity, findings were analyzed descriptively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 255 articles identified, 61 met the inclusion criteria. Cumulatively representing over 1000 DIF specimens, several studies estimated DIF sensitivity to be 75%. While vascular immunoglobulin A (IgA) deposits on DIF were associated with renal disease, other systemic associations were inconsistent. Vascular IgG deposition may be overrepresented in ANCA-associated vasculitis. Granular vascular and epidermal basement membrane zone Ig deposition differentiated hypocomplementemic from normocomplementemic urticarial vasculitis. Few studies have assessed the added value of DIF over routine microscopy alone in vasculitis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This scoping review discovered that DIF testing for vasculitis has been performed not only for diagnostic confirmation of vasculitis but also for disease subtype classification and prediction of systemic associations. Future studies on test sensitivity of DIF compared to that of histopathology are needed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"51 12","pages":"987-999"},"PeriodicalIF":1.6,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cup.14722","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288270","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}