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1.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(10): 850-857, nov.-dec. 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-227114

RESUMO

Antecedentes y objetivos No existen guías clínicas para el manejo del nevus displásico (ND). Determinaremos el porcentaje de dermatólogos de la sección Centro de la Academia Española de Dermatología y Venereología (AEDV) que ampliarían márgenes o tendrían actitud conservadora en un ND, y si los antecedentes personales (AP) y/o familiares (AF) de melanoma modificarían la actitud tomada frente a un paciente sin antecedentes de interés. Material y métodos Se difundió la encuesta a 738 dermatólogos y se recogieron datos de forma anónima del 15 de junio de 2022 al 31 de julio de 2022. Las variables de exposición fueron el grado de displasia (bajo/alto), los márgenes (afecto/libre) y los antecedentes de melanoma (sin antecedentes/AF/AP). Las variables dependientes (actitud) incluyeron observación/márgenes de 1-4mm /márgenes 5-10mm. Resultados Se recibieron 86 respuestas. Si el patólogo informase bordes afectos en un ND de bajo grado, el 60,5% ampliarían márgenes de 1 a 4mm, mientras que si los márgenes están libres el 97,7%, tendrían una actitud conservadora. Si el patólogo informara bordes afectos en un ND de alto grado, solo el 1,2% tendrían una actitud conservadora, porcentaje que se incrementa notablemente si los márgenes están libres (68,6%). El AF o el AP de melanoma no influirían en la actitud de la mayoría. Conclusiones El manejo del ND no es uniforme entre los dermatólogos de la sección centro de la AEDV, especialmente en el caso de ND de bajo grado con bordes afectos y ND de alto grado con bordes libres. El AF o el AP de melanoma no modifican en la mayor parte de los casos la actitud clínica (AU)


Background and objectives There are no clinical guidelines on the management of dysplastic nevus (DN). The aims of this study were to determine the percentage of dermatologists in the center-Spain section of the Spanish Academy of Dermatology and Venereology (AEDV) who would manage a histologically confirmed DN with a watch-and-wait approach or with wider surgical margins and to investigate whether their attitudes would vary depending on whether or not the patient had a personal and/or family history of melanoma. Material and methods We collected data from an anonymous survey sent to 738 dermatologists between June 15 and July 31, 2022. The independent variables were degree of dysplasia (low vs. high), margin status (positive vs. negative), and a personal or family history of melanoma (yes vs. no in both cases). The dependent variables were attitude towards management (watch-and-wait vs. re-excision with a surgical margin of 1 to 4mm or re-excision with a surgical margin of 5 to 10mm). Results We obtained 86 responses to the questionnaire. When pathology indicated a low-grade DN, 60.5% of dermatologists stated they would obtain a surgical margin of 1 to 4mm if the first margins were positive, and 97.7% would watch and wait if the report described negative margins. For high-grade DNs, 1.2% of dermatologists would watch and wait to manage DN with positive margins; 68.8% would use this approach for negative margins. A family or personal history of melanoma had no influence on most of the dermatologists’ attitudes. Conclusions Management strategies for DN among dermatologists from the center-Spain section of the AEDV varied, particularly when faced with low-grade DN with positive margins and high-grade DN with negative margins. A family or personal history of melanoma did not influence clinical attitudes in most cases (AU)


Assuntos
Humanos , Masculino , Feminino , Pesquisas sobre Atenção à Saúde , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/terapia , Padrões de Prática Médica , Dermatologistas , Estudos Transversais , Sociedades Médicas , Espanha
2.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(10): t850-t857, nov.-dec. 2023. tab, graf
Artigo em Inglês | IBECS | ID: ibc-227115

RESUMO

Background and objectives There are no clinical guidelines on the management of dysplastic nevus (DN). The aims of this study were to determine the percentage of dermatologists in the center-Spain section of the Spanish Academy of Dermatology and Venereology (AEDV) who would manage a histologically confirmed DN with a watch-and-wait approach or with wider surgical margins and to investigate whether their attitudes would vary depending on whether or not the patient had a personal and/or family history of melanoma. Material and methods We collected data from an anonymous survey sent to 738 dermatologists between June 15 and July 31, 2022. The independent variables were degree of dysplasia (low vs. high), margin status (positive vs. negative), and a personal or family history of melanoma (yes vs. no in both cases). The dependent variables were attitude towards management (watch-and-wait vs. re-excision with a surgical margin of 1 to 4mm or re-excision with a surgical margin of 5 to 10mm). Results We obtained 86 responses to the questionnaire. When pathology indicated a low-grade DN, 60.5% of dermatologists stated they would obtain a surgical margin of 1 to 4mm if the first margins were positive, and 97.7% would watch and wait if the report described negative margins. For high-grade DNs, 1.2% of dermatologists would watch and wait to manage DN with positive margins; 68.8% would use this approach for negative margins. A family or personal history of melanoma had no influence on most of the dermatologists’ attitudes. Conclusions Management strategies for DN among dermatologists from the center-Spain section of the AEDV varied, particularly when faced with low-grade DN with positive margins and high-grade DN with negative margins. A family or personal history of melanoma did not influence clinical attitudes in most cases (AU)


Antecedentes y objetivos No existen guías clínicas para el manejo del nevus displásico (ND). Determinaremos el porcentaje de dermatólogos de la sección Centro de la Academia Española de Dermatología y Venereología (AEDV) que ampliarían márgenes o tendrían actitud conservadora en un ND, y si los antecedentes personales (AP) y/o familiares (AF) de melanoma modificarían la actitud tomada frente a un paciente sin antecedentes de interés. Material y métodos Se difundió la encuesta a 738 dermatólogos y se recogieron datos de forma anónima del 15 de junio de 2022 al 31 de julio de 2022. Las variables de exposición fueron el grado de displasia (bajo/alto), los márgenes (afecto/libre) y los antecedentes de melanoma (sin antecedentes/AF/AP). Las variables dependientes (actitud) incluyeron observación/márgenes de 1-4mm /márgenes 5-10mm. Resultados Se recibieron 86 respuestas. Si el patólogo informase bordes afectos en un ND de bajo grado, el 60,5% ampliarían márgenes de 1 a 4mm, mientras que si los márgenes están libres el 97,7%, tendrían una actitud conservadora. Si el patólogo informara bordes afectos en un ND de alto grado, solo el 1,2% tendrían una actitud conservadora, porcentaje que se incrementa notablemente si los márgenes están libres (68,6%). El AF o el AP de melanoma no influirían en la actitud de la mayoría. Conclusiones El manejo del ND no es uniforme entre los dermatólogos de la sección centro de la AEDV, especialmente en el caso de ND de bajo grado con bordes afectos y ND de alto grado con bordes libres. El AF o el AP de melanoma no modifican en la mayor parte de los casos la actitud clínica (AU)


Assuntos
Humanos , Masculino , Feminino , Pesquisas sobre Atenção à Saúde , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/terapia , Padrões de Prática Médica , Dermatologistas , Estudos Transversais , Sociedades Médicas , Espanha
3.
Ann Diagn Pathol ; 67: 152211, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37717457

RESUMO

BACKGROUND: Pathologists face ongoing challenges distinguishing between benign and malignant melanocytic tumors. PRAME (PReferentially expressed Antigen in Melanoma) has a demonstrated value distinguishing between these types of lesions. However, the sensitivity of single immunohistochemistry is variable. HMB-45 is another valuable marker, but on its own, has a limited ability in setting of primary melanocytic tumors. This study sought to evaluate the diagnostic potential of a dual panel combining PRAME and HMB-45 in the assessment of primary melanocytic tumors. METHODS: 259 tumors, of which 141 were benign nevi, 31 dysplastic nevi (either low- or high grade dysplasia), and further 87 malignant melanomas, were retrieved from the department's archives and assessed by two experienced dermatopathologists. New sections were stained with PRAME and HMB-45, respectively. For PRAME, a nuclear, and for HMB-45, a cytoplasmic staining, was considered positive and scored as described in the literature on a scale from 0 to 4+. Only dermal component was assessed on HMB-45 stain. RESULTS: PRAME was diffusely expressed in only 1 benign nevus, with focal expression in further 28 compared to 22 diffusely and 103 focally HMB-45-positive benign nevi. 5 high-grade dysplastic nevi showed diffuse PRAME expression in epidermal component, with varying degree of positivity in adjacent dermal compartment, and further 8 dysplastic nevi showed only focal expression. HMB-45 was diffusely expressed in only 2, with focal expression in 23, and no apparent positivity in remaining 6 dysplastic nevi. In invasive melanoma group, PRAME stained >75 % cells in 64/87 tumors, however, 10/87 melanomas were completely negative. HMB-45 was captured diffusely in 49/87 melanomas, 32 showed patchy expression, and 6 tumors were blank negative. Diffuse 4+ PRAME positivity showed superior sensitivity and specificity of 73,6 % and 96,5 %, respectively, compared to HMB-45, 56,3 % and 86,0 %, respectively. No nevi showed double 4+ positivity, however, the sensitivity for double positivity was only 49,4 %. CONCLUSION: Our results confirm the superiority of PRAME over HMB-45 in the differential diagnosis of melanocytic tumors. However, combined staining can significantly increase specificity, rendering a benign diagnosis more unlikely in a double 4+ diffuse positivity setting.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo , Neoplasias Cutâneas , Humanos , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/patologia , Corantes , Melanoma/diagnóstico , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Anticorpos Monoclonais , Nevo/patologia , Antígenos de Neoplasias , Coloração e Rotulagem , Diagnóstico Diferencial
4.
Virchows Arch ; 483(6): 847-854, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37723345

RESUMO

Pathologic discordance affecting patient management may approach 20% in melanocytic cases following specialist review. The diagnostic utility of PRAME has been highlighted in several studies but interpretative challenges exist including its use in severely dysplastic compound nevi showing progression to melanoma in situ, nevoid melanoma, and coexisting nevi with melanoma. We examine the PRAME status of a broad spectrum of melanocytic lesions including challenging, dysplastic nevi with severe atypia from a large Irish patient cohort. Retrospective review of the dermatopathology database was conducted to evaluate the PRAME staining characteristics of two hundred and twenty-one melanocytic lesions using a commercially available PRAME antibody (EPR20330). The proportion of nuclear labeling and intensity of staining was recorded. The sensitivity and specificity of PRAME for in situ and malignant melanocytic lesions was 77% and 100%, respectively. Virtually all of our melanoma in situ from high-cumulative sun damaged (CSD) skin (22/23) and all acral lentiginous melanoma (5/5) were PRAME positive while 80% (8/10) of our lentigo maligna melanoma showed diffuse expression. None of our benign subgroup showed diffuse immunoexpression (0/82), including thirty-seven moderate or severely dysplastic nevi. In all cases of melanoma in situ arising in association with a dysplastic compound nevus (0/10), no immunoexpression was observed in the nevic component while in five cases of melanoma in situ with coexistent, intradermal nevus immunostaining was confined to the in situ component. A total of 100% (2/2) of desmoplastic melanomas and 50% (4/8) of nodular melanomas were PRAME positive. PRAME is a sensitive and highly specific immunostain in the diagnosis of in situ and invasive melanoma and we emphasize its application in the evaluation of high CSD and acral melanoma subtypes as well as in challenging threshold cases.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Humanos , Síndrome do Nevo Displásico/diagnóstico , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Biomarcadores Tumorais/metabolismo , Melanoma/patologia , Neoplasias Cutâneas/patologia , Nevo/diagnóstico , Nevo/patologia , Antígenos de Neoplasias , Diagnóstico Diferencial , Melanoma Maligno Cutâneo
5.
J Am Acad Dermatol ; 88(1): 60-70, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-30543833

RESUMO

BACKGROUND: There have been no studies of the American Academy of Dermatology's SpotMe skin cancer screening program to collectively analyze and determine the factors associated with suspected basal cell carcinoma (BCC), squamous cell carcinoma (SCC), dysplastic nevus (DN), and cutaneous melanoma (CM) diagnoses. OBJECTIVE: Describe the demographics, risk factors, and access to care profiles associated with suspected diagnoses of BCC, SCC, DN, and CM among first-time SpotMe screenees during 2009-2010. METHODS: We conducted a cross-sectional analysis of data from the SpotMe skin cancer screenings conducted in 2009 and 2010. We performed multivariable logistic regression analysis for each diagnosis, incorporating standard demographic, access to care, and risk factor variables in the models. RESULTS: Men, those without a regular dermatologist, persons reporting recently changing moles, and those with a personal history of melanoma were at increased risk for each of the suspected diagnoses analyzed. Uninsured persons were at increased risk for suspected malignancies (BCC, SCC, and CM). LIMITATIONS: Lack of histologic confirmation for diagnoses and cross-sectional design. CONCLUSION: Among first-time SpotMe participants, suspected diagnoses of BCC, SCC, DN, and CM shared several associated factors, which may be considered when planning outreach and screening for populations at risk for skin cancer.


Assuntos
Carcinoma Basocelular , Carcinoma de Células Escamosas , Síndrome do Nevo Displásico , Melanoma , Neoplasias Cutâneas , Masculino , Humanos , Melanoma/diagnóstico , Melanoma/epidemiologia , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/epidemiologia , Estudos Transversais , Detecção Precoce de Câncer , Programas de Rastreamento , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/patologia , Fatores de Risco , Melanoma Maligno Cutâneo
6.
J Am Acad Dermatol ; 88(1): 1-10, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36038073

RESUMO

Since the late 1970s, the diagnosis and management of dysplastic nevi have been areas fraught with controversy in the fields of dermatology and dermatopathology. Diagnostic uncertainty and lack of standardized nomenclature continue to propagate confusion among clinicians, dermatopathologists, and patients. In part I of this CME review article, we summarize the historical context that gave rise to the debate surrounding dysplastic nevi and review key features for diagnosis, classification, and management, as well as epidemiology. We discuss essentials of clinical criteria, dermoscopic features, histopathologic features, and the diagnostic utility of total body photography and reflectance confocal microscopy in evaluating dysplastic nevi, with emphasis on information available since the last comprehensive review a decade ago.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo , Neoplasias Cutâneas , Humanos , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/epidemiologia , Síndrome do Nevo Displásico/patologia , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Diagnóstico Diferencial , Nevo/diagnóstico
7.
Tidsskr Nor Laegeforen ; 142(15)2022 10 25.
Artigo em Inglês, Norueguês | MEDLINE | ID: mdl-36286556

RESUMO

BACKGROUND: Histopathological assessment of melanoma and other melanocytic skin lesions can be difficult and can vary between pathologists. MATERIAL AND METHOD: Histopathological slides of 196 melanocytic skin lesions from 2009 and 2018-2019 were obtained from the archive of the Department of Pathology at Oslo University Hospital and classified into six diagnostic categories: 1) benign nevus, 2) irregular/dysplastic nevus, i.e. dysplastic nevus with moderate atypia, 3) nevus with severe atypia, i.e. dysplastic nevus with severe atypia, 4) melanoma in situ, 5) superficial spreading or lentiginous melanoma and 6) nodular melanoma. The slides were then examined independently and blindly by three experienced pathologists and categorised in the same way. Interobserver agreement was assessed with Cohen's kappa, and agreement with the original diagnosis was assessed by the proportion of assessments in the same diagnostic category. RESULTS: The kappa values for the assessments from the three pathologists ranged from 0.45 to 0.50. The proportion of reassessments in agreement with the original diagnostic category was 85.7 % (95 % CI 75.7 to 92.1), 29.2 % (19.9 to 40.5), 27.8 % (20.9 to 36.0), 78.3 % (70.4 to 84.5), 81.2 % (73.7 to 86.9) and 93.3 % (82.1 to 97.7), respectively, i.e. highest for nodular melanoma. The proportion of reassessments in which the diagnosis was more serious or less serious than the original diagnosis was higher and lower, respectively, for slides from 2009 than for slides from 2018-2019. INTERPRETATION: The differences between the pathologists' assessments and deviations from the original diagnoses can be explained by poorly reproducible diagnostic criteria, diagnostic entities with overlapping morphology and increasing awareness of early signs of malignancy. Some evolution in diagnostic practice cannot be ruled out.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo , Neoplasias Cutâneas , Humanos , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/patologia , Melanoma/diagnóstico , Melanoma/cirurgia , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Nevo/diagnóstico , Nevo/cirurgia , Diagnóstico Diferencial , Melanoma Maligno Cutâneo
8.
Ann Diagn Pathol ; 60: 152006, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35839551

RESUMO

The primary differential diagnosis of melanoma is dysplastic nevus. Until now, the final diagnosis is based on histological findings. With modern techniques, pathologists receive very early melanocytic lesions, which do not fit all malignant criteria. In those cases, even the concurrence between specialists and intraobserver agreement is not good. A molecular test could be developed to improve the accuracy of melanocytic lesions diagnosis and help in challenging lesions. The objective of this study is to provide a literary review looking for molecular markers that characterize dysplastic nevi and could help surgical pathologists differentiate them from melanoma. Articles from PubMed presenting case series of dysplastic nevi and melanoma genomic analyses were considered. The search was conducted in PubMed looking for papers written in English, published in the ten years preceding April 2020. This review confirmed the absence of a pathognomonic molecular marker of dysplastic nevi. This is a heterogeneous group of lesions with an uncertain risk to become a melanoma. The molecular heterogeneity of dysplastic nevi, the variation of histological diagnostic criteria among services, and the diverse molecular techniques applied are challenging features that might hamper definitive diagnoses. However, currently, there appears to be limited value for molecular testing in the diagnosis of dysplastic nevi.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Diagnóstico Diferencial , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/genética , Síndrome do Nevo Displásico/patologia , Humanos , Melanócitos/patologia , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Nevo/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
10.
Surg Pathol Clin ; 14(2): 341-357, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34023110

RESUMO

Dysplastic nevi are distinctive melanocytic lesions in the larger group of atypical nevi. They often are multiple and sporadic with genetic features intermediate between common acquired nevi and melanoma. Dysplastic nevi may be multiple, familial, and seen in patients with familial melanoma syndrome. Although their behavior is benign, they rarely represent a precursor to melanoma. If clinically suspicious, dysplastic nevi should be removed for adequate histopathologic examination and to exclude possibility of melanoma. Partial sampling should be avoided because reliable separation from melanoma requires visualization of the entire lesion to allow for examination of architectural histopathologic features and avoid sampling error.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/genética , Humanos , Melanoma/genética , Neoplasias Cutâneas/genética
11.
J Cutan Pathol ; 48(9): 1204-1207, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34009658

RESUMO

It is important for the dermatopathologist to be adept in differentiating tissue artifacts from normal tissue variants and pathologies. Numerous tissue artifacts have been described to date; however, once we are familiar with the common artifacts that appear in our practice, we may not immediately recognize other confounders. For example, dermatopathologists in more temperate regions of the country may not be familiar with freezing artifact. In this case series, we present three common diagnoses in dermatopathology that were obscured by the extreme winter weather that severely impacted the Southern United States in February 2021 and discuss methods to prevent these artifacts.


Assuntos
Dermatologia/normas , Erros de Diagnóstico/prevenção & controle , Patologia/normas , Pele/patologia , Adulto , Idoso , Artefatos , Biópsia por Agulha/métodos , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Dermatologia/estatística & dados numéricos , Diagnóstico Diferencial , Erros de Diagnóstico/estatística & dados numéricos , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/patologia , Clima Extremo , Feminino , Humanos , Ceratose Seborreica/diagnóstico , Ceratose Seborreica/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Patologia/estatística & dados numéricos , Penfigoide Bolhoso/diagnóstico , Penfigoide Bolhoso/patologia , Estações do Ano
12.
Eur J Ophthalmol ; 31(3): NP45-NP49, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32064917

RESUMO

PURPOSE: We investigated the molecular causes of an unusual pigmented and ulcerated iris lesion detected in a patient diagnosed with neurofibromatosis type 1 (NF1). CASE REPORT: A 52-year-old man was referred to our clinic with a non-traumatic ulcer in his left eye. Hyphema reabsorption disclosed a pigmented iris mass, thus ultrasound biomicroscopy and anterior segment fluorescein angiography were performed to investigate for the presence of a malignant lesion. Upon angiography, the lesion appeared highly vascularized but prevented posterior iris examination. Therefore, a gonioscopy was executed revealing extension of the lesion into the peripheral iris. Histopathology of the excisional iris biopsy revealed iris melanoma over a dysplastic nevus. NF1 is an autosomal dominant disorder characterized by pigmented cutaneous lesions, multiple skin tumors, and spinal and cranial nerve tumors. Uveal melanoma is the most common primary intraocular malignancy in adults. Up to 92% of cutaneous melanomas occur in patients with dysplastic nevus syndrome. Skin melanomas have been found in 0.1%-5.4% of NF1 patients. In literature, only 18 reports of uveal melanoma have been documented in association with NF1, including three cases of iris melanoma. RESULTS: NF1 gene testing identified a causative mutation in the germline but no loss of the wild-type allele in the iris melanoma. CONCLUSIONS: Occurrence of both diseases in one patient is extremely rare, but the common origin of Schwann cells and melanoblasts suggests a non-casual association. Therefore, we propose that NF1 patients should be screened for nevi, both cutaneous and uveal, for better patients' management.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Neurofibromatose 1 , Neoplasias Cutâneas , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/genética , Humanos , Iris/diagnóstico por imagem , Masculino , Melanoma/diagnóstico , Pessoa de Meia-Idade , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico
13.
Dermatol Ther ; 33(6): e14503, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33142003

RESUMO

Regular dermatological examination for patients with dysplastic nevi is indicated. However, the literature on whether those patients should also be examined by ophthalmologists or not regarding a relation between suspicious lesions for ocular melanoma and cutaneous dysplastic nevi is limited. In this study, we aimed to compare the findings of a single ophthalmologic examination between the group of patients with multiple atypical nevi with at least one histopathologically proven dysplastic nevus and another group without atypical nevi. We examined the eyes of 110 patients with multiple atypical nevi with at least one histopathologically proven dysplastic nevus (47 had the diagnosis of dysplastic nevus syndrome type A, B, C, D1 or D2) for any lesion and compared the results with a control group consisted of 110 gender, age and skin-type matched patients without atypical nevi no ocular melanoma was detected in any of the groups. The frequency of the conjunctival nevi, iris nevi, choroidal nevi and conjunctival acquired melanosis were similar in both groups. Iris freckles were detected more frequently in the study group. Conjunctival racial hyperpigmentation was detected more frequently in the control group (P < .05). In this study, any significant difference in the distribution of the ocular lesions with any risk of malignancy in the study and control groups was not observed. However, considering the limitations of the study, there may still be a need of regular ophthalmic examination for the patients with atypical nevi in case of having high risk factors for developing melanoma.


Assuntos
Síndrome do Nevo Displásico , Melanoma , Melanose , Nevo Pigmentado , Neoplasias Cutâneas , Síndrome do Nevo Displásico/diagnóstico , Humanos , Melanoma/diagnóstico , Melanoma/epidemiologia , Melanose/diagnóstico , Melanose/epidemiologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/epidemiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia
14.
J Cutan Pathol ; 47(12): 1143-1149, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32829516

RESUMO

BACKGROUND: Pagetoid Spitz nevus is a rare subtype of Spitz nevus usually found on the lower extremities, particularly on the thigh of women. As a rare and under-recognized entity that can be misdiagnosed as melanoma, further characterization of clinical and histopathological features is needed to improve its recognition. METHODS: A retrospective analysis of all melanocytic neoplasms from the thigh diagnosed over a 3-year period. RESULTS: Fifty-five (15.4%) of the 357 melanocytic neoplasms on the thigh were Spitz nevi, the majority of them occurring in women (87.3%). Of the 55 Spitz nevi, 33 (60.0%) were pagetoid Spitz nevi, 14 (25.5%) were Reed nevi, and eight (14.5%) were conventional Spitz nevi. The mean age of patients with pagetoid Spitz nevi was 47.2, the majority being women (84.9%). Pagetoid Spitz nevi were small, with a mean histopathologic diameter of 4 mm, and often junctional (63.6%). Compared to Clark nevi of the thigh, pagetoid Spitz nevi comprised significantly more solitary melanocytes with a greater degree of scatter. CONCLUSIONS: These results suggest that Spitz nevi and, in particular, pagetoid Spitz nevi constitute a significant percentage of nevi on the thigh. Previously reported benign clinical and histopathological features of pagetoid Spitz nevi are confirmed in this study.


Assuntos
Síndrome do Nevo Displásico/patologia , Melanócitos/patologia , Nevo de Células Epitelioides e Fusiformes/patologia , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Diagnóstico Diferencial , Erros de Diagnóstico , Síndrome do Nevo Displásico/diagnóstico , Epiderme/patologia , Feminino , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/patologia , Pessoa de Meia-Idade , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Nevo Pigmentado/diagnóstico , Estudos Retrospectivos , Neoplasias Cutâneas/ultraestrutura , Coxa da Perna/patologia
15.
J Cutan Pathol ; 47(12): 1132-1142, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32776349

RESUMO

BACKGROUND: Fusions involving the BRAF gene are responsible for 5% of Spitz neoplasms. To better characterize them, we report the clinical, morphological, and genomic findings of six BRAF fusion Spitz tumors. METHODS: The morphological, clinical, and molecular findings of six BRAF fusion Spitz neoplasms assessed by next generation sequencing (NGS) were compared to a control set of Spitz without BRAF fusions. RESULTS: BRAF fusion Spitz tumors had frequent predominance of epithelioid morphology (4/6 cases), frequent high-grade nuclear atypia and pleomorphism (5/6 cases), and a frequent desmoplastic base (3/6 cases). Five of six cases were diagnosed as atypical Spitz tumor and one as Spitz nevus. All cases had uneventful clinical follow-up. There were five different fusion partners, with CLIP2 being the most frequent. Secondary pathogenic mutations were frequent and chromosomal copy number changes were seen in three of six cases by an NGS platform. CONCLUSIONS: BRAF fusions Spitz usually have epithelioid morphology, high-grade nuclear atypia, and desmoplasia. Chromosomal copy number changes are not infrequent. While our cases had uneventful follow-up, a meta-analysis of the literature suggests that among the fusion subtypes associated with Spitz tumors, they are among the subgroups more likely to develop distant metastasis.


Assuntos
Síndrome do Nevo Displásico/genética , Nevo de Células Epitelioides e Fusiformes/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/patologia , Adulto , Idoso , Estudos de Casos e Controles , Criança , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/patologia , Feminino , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Proteínas Associadas aos Microtúbulos/genética , Mutação , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Nevo de Células Epitelioides e Fusiformes/patologia , Proteínas de Fusão Oncogênica/genética , Estudos Retrospectivos , Neoplasias Cutâneas/ultraestrutura
16.
Virchows Arch ; 477(1): 121-130, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32388720

RESUMO

Overlapping histological features between benign and malignant lesions and a lack of firm diagnostic criteria for malignancy result in high rates of inter-observer variation in the diagnosis of melanocytic lesions. We aimed to investigate the differential expression of five miRNAs (21, 200c, 204, 205, and 211) in benign naevi (n = 42), dysplastic naevi (n = 41), melanoma in situ (n = 42), and melanoma (n = 42) and evaluate their potential as diagnostic biomarkers of melanocytic lesions. Real-time PCR showed differential miRNA expression profiles between benign naevi; dysplastic naevi and melanoma in situ; and invasive melanoma. We applied a random forest machine learning algorithm to classify cases based on their miRNA expression profiles, which resulted in a ROC curve analysis of 0.99 for malignant melanoma and greater than 0.9 for all other groups. This indicates an overall very high accuracy of our panel of miRNAs as a diagnostic biomarker of benign, dysplastic, and malignant melanocytic lesions. However, the impact of variable lesion percentage and spatial expression patterns of miRNAs on these real-time PCR results was also considered. In situ hybridisation confirmed the expression of miRNA 21 and 211 in melanocytes, while demonstrating expression of miRNA 205 only in keratinocytes, thus calling into question its value as a biomarker of melanocytic lesions. In conclusion, we have validated some miRNAs, including miRNA 21 and 211, as potential diagnostic biomarkers of benign, dysplastic, and malignant melanocytic lesions. However, we also highlight the crucial importance of considering tissue morphology and spatial expression patterns when using molecular techniques for the discovery and validation of new biomarkers.


Assuntos
Biomarcadores/análise , Síndrome do Nevo Displásico/patologia , Hiperplasia/patologia , Melanoma/genética , MicroRNAs/genética , Neoplasias Cutâneas/genética , Diagnóstico Diferencial , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/metabolismo , Humanos , Hiperplasia/diagnóstico , Hiperplasia/metabolismo , Melanócitos/metabolismo , Melanócitos/patologia , Melanoma/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Melanoma Maligno Cutâneo
18.
Aust J Gen Pract ; 48(9): 621-624, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31476830

RESUMO

BACKGROUND: As a result of the rapidly changing hormonal milieu, changing or newly discovered pigmented skin lesions during pregnancy can be diagnostically challenging. It is important for GPs to be aware of the effect of gestational changes on pigment production and features that should raise concern. OBJECTIVE: The aim of this article is to provide an understanding of common changes that may occur in pigmented lesions during pregnancy, features that are of concern and the management of suspected melanoma in pregnant women. DISCUSSION: In pregnant women, changing naevi should be evaluated using conventional ABCDE melanoma diagnostic criteria, and suspicious lesions should not be attributed solely to a change in the hormonal milieu. In this population, diagnosed melanoma is probably best treated at a specialist centre.


Assuntos
Síndrome do Nevo Displásico/diagnóstico , Melanoma/diagnóstico , Melanose/diagnóstico , Nevo Pigmentado/diagnóstico , Complicações Neoplásicas na Gravidez/diagnóstico , Neoplasias Cutâneas/diagnóstico , Dermoscopia , Diagnóstico Diferencial , Síndrome do Nevo Displásico/patologia , Feminino , Medicina Geral , Humanos , Hiperpigmentação/diagnóstico , Melanoma/patologia , Melanose/patologia , Nevo/diagnóstico , Nevo/patologia , Nevo Pigmentado/patologia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/patologia , Complicações Neoplásicas na Gravidez/patologia , Encaminhamento e Consulta , Neoplasias Cutâneas/patologia
19.
Am J Clin Dermatol ; 20(5): 669-682, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31119650

RESUMO

Eruptive melanocytic nevi (EMN) is a phenomenon characterized by the sudden onset of nevi. Our objective was to compile all published reports of EMN to identify possible precipitating factors and to evaluate the clinical appearance and course. We conducted a systematic bibliographic search and selected 93 articles, representing 179 patients with EMN. The suspected causes were skin and other diseases (50%); immunosuppressive agents, chemotherapy or melanotan (41%); and miscellaneous, including idiopathic (9%). The clinical manifestations could largely be divided into two categories: EMN associated with skin diseases were frequently few in number (fewer than ten nevi), large, and localized to the site of previous skin disease, whereas those due to other causes presented most often with multiple small widespread nevi. In general, EMN seem to persist unchanged after their appearance, but development over several years or fading has also been reported. Overall, 16% of the cases had at least one histologically confirmed dysplastic nevus. Five cases of associated melanoma were reported. We conclude that the clinical appearance of EMN may differ according to the suggested triggering factor. Based on the clinical distinction, we propose a new subclassification of EMN: (1) widespread eruptive nevi (WEN), with numerous small nevi, triggered by, for example, drugs and internal diseases, and (2) Köbner-like eruptive nevi, often with big and few nevi, associated with skin diseases and most often localized at the site of previous skin disease/trauma. The nature of the data precluded assessment of risk of malignant transformation.


Assuntos
Síndrome do Nevo Displásico/epidemiologia , Nevo Pigmentado/epidemiologia , Neoplasias Cutâneas/epidemiologia , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/etiologia , Humanos , Imunossupressores/efeitos adversos , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/etiologia , Peptídeos Cíclicos/efeitos adversos , Fatores Desencadeantes , Medição de Risco , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etiologia , alfa-MSH/efeitos adversos , alfa-MSH/análogos & derivados
20.
G Ital Dermatol Venereol ; 154(3): 315-320, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28704985

RESUMO

BACKGROUND: There is no universally-accepted classification of Spitzoid tumors. This makes it difficult to assign a correct diagnosis and select a treatment that minimizes the risk of overestimating, or worse, underestimating, the malignant potential of these tumors. The aim of this study was to describe the clinical-pathological and epidemiological features of Spitzoid tumors, as well as to assess mortality in these patients. METHODS: This retrospective cohort study looked at data on Spitzoid tumors excised in 1999-2012 at the Dermatologic Clinic of the Turin University Hospital. Spitzoid melanoma specific survival curves were generated with the Kaplan-Meier method and compared using the log-rank test. RESULTS: In this time period, 1663 lesion were described at the pathologic report as Spitzoid. 262 (15.75%) were Spitz nevi, 307 (18.46%) Reed nevi, 827 (49.73%), 810 (48.71%) Spitzoid dysplastic nevi, 17(1.02%) atypical Spitzoid tumors, and 267 (16.06%) Spitzoid melanomas. Median follow-up time was 9 years. Out of the entire cohort only 24 patients died from melanoma. All of them received a diagnosis of Spitzoid melanoma. None of the patients with a diagnosis of not melanoma Spitz tumor died for melanoma during the follow-up. CONCLUSIONS: In the large majority of the cases, Spitz tumor should be considered as benign lesion and excised only if melanoma features are seen. The used clinical pathological classification avoid misdiagnoses, inappropriate treatment and the risk of death for melanoma.


Assuntos
Síndrome do Nevo Displásico/diagnóstico , Melanoma/diagnóstico , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adolescente , Adulto , Criança , Estudos de Coortes , Síndrome do Nevo Displásico/epidemiologia , Síndrome do Nevo Displásico/patologia , Feminino , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Masculino , Melanoma/epidemiologia , Melanoma/patologia , Pessoa de Meia-Idade , Nevo de Células Epitelioides e Fusiformes/epidemiologia , Nevo de Células Epitelioides e Fusiformes/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Taxa de Sobrevida , Adulto Jovem
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