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1.
BMJ Open ; 14(2): e069694, 2024 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-38309755

RESUMO

INTRODUCTION: Diagnosing invasive cutaneous melanoma (CM) can be challenging due to subjectivity in distinguishing equivocal nevi, melanoma in situ and thin CMs. The underlying molecular mechanisms of progression from nevus to melanoma must be better understood. Identifying biomarkers for treatment response, diagnostics and prognostics is crucial. Using biomedical data from biobanks and population-based healthcare data, translational research can improve patient care by implementing evidence-based findings. The BioMEL biobank is a prospective, multicentre, large-scale biomedical database on equivocal nevi and all stages of primary melanoma to metastases. Its purpose is to serve as a translational resource, enabling researchers to uncover objective molecular, genotypic, phenotypic and structural differences in nevi and all stages of melanoma. The main objective is to leverage BioMEL to significantly improve diagnostics, prognostics and therapy outcomes of patients with melanoma. METHODS AND ANALYSIS: The BioMEL biobank contains biological samples, epidemiological information and medical data from adult patients who receive routine care for melanoma. BioMEL is focused on primary and metastatic melanoma, but equivocal pigmented lesions such as clinically atypical nevi and melanoma in situ are also included. BioMEL data are gathered by questionnaires, blood sampling, tumour imaging, tissue sampling, medical records and histopathological reports. ETHICS AND DISSEMINATION: The BioMEL biobank project is approved by the national Swedish Ethical Review Authority (Dnr. 2013/101, 2013/339, 2020/00469, 2021/01432 and 2022/02421-02). The datasets generated are not publicly available due to regulations related to the ethical review authority. TRIAL REGISTRATION NUMBER: NCT05446155.


Assuntos
Melanoma , Nevo , Neoplasias Cutâneas , Adulto , Humanos , Bancos de Espécimes Biológicos , Melanoma/diagnóstico , Melanoma/patologia , Nevo/patologia , Estudos Prospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Pesquisa Translacional Biomédica , Estudos Multicêntricos como Assunto , Bases de Dados como Assunto
2.
Sci Rep ; 14(1): 2768, 2024 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-38307985

RESUMO

The accurate determination of the size and depth of infiltration is critical to the treatment and excision of melanoma and other skin cancers. However, current techniques, such as skin biopsy and histological examination, pose invasiveness, time-consumption, and have limitations in measuring at the deepest level. Non-invasive imaging techniques like dermoscopy and confocal microscopy also present limitations in accurately capturing contrast and depth information for various skin types and lesion locations. Thus, there is a pressing need for non-invasive devices capable of obtaining high-resolution 3D images of skin lesions. In this study, we introduce a novel device that combines 18 MHz ultrasound and photoacoustic tomography into a single unit, enabling the acquisition of colocalized 3D images of skin lesions. We performed in vivo measurements on 25 suspicious human skin nevi that were promptly excised following measurements. The combined ultrasound/photoacoustic tomography imaging technique exhibited a strong correlation with histological Breslow thickness between 0.2 and 3 mm, achieving a coefficient of determination (R[Formula: see text]) of 0.93, which is superior to the coefficients from the individual modalities. The results procured in our study underscore the potential of combined ultrasound and photoacoustic tomography as a promising non-invasive 3D imaging approach for evaluating human nevi and other skin lesions. Furthermore, the system allows for integration of other optical modalities such as optical coherence tomography, microscopy, or Raman spectroscopy in future applications.


Assuntos
Nevo , Neoplasias Cutâneas , Humanos , Projetos Piloto , Imageamento Tridimensional , Neoplasias Cutâneas/patologia , Tomografia de Coerência Óptica , Microscopia Confocal/métodos
3.
Actas dermo-sifiliogr. (Ed. impr.) ; 115(2): 130-136, feb. 2024. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-230306

RESUMO

Antecedentes y objetivo El síndrome de nevus atípico se ha considerado uno de los factores más importantes para el desarrollo de melanoma. El objetivo de este estudio fue describir los cambios dermatoscópicos de las lesiones melanocíticas en pacientes con diagnóstico de síndrome de nevus atípicos, durante el seguimiento digital en 5 años. Material y métodos Se realizó un estudio retrospectivo de seguimiento a una cohorte de pacientes atendidos en un consultorio particular, especializado en cáncer de piel y mapeo digital corporal, localizado en Medellín (Colombia), entre enero de 2017 y diciembre de 2022. Se analizaron las características dermatoscópicas encontradas y su relación con el diagnóstico de un melanoma. Resultados Se incluyeron 368 pacientes, con una mediana de edad de 43 años RIQ (37-51) de los cuales,187 fueron mujeres. Al finalizar el seguimiento, 222 (60,3%) presentaron red atípica, 163 (44,2%) glóbulos asimétricos, 105 (28,5%) regresión blanco gris, 72 (19,5%) regresión de la lesión, 59 (16%) retículo invertido, 28 (7,6%) pigmento excéntrico asimétrico, 21 (5,7%) proyecciones asimétricas y 8 (2,1%) asimetría en el patrón vascular. A los 60 meses de seguimiento a un 12,2% se les diagnosticó un melanoma. Las áreas blanco-grisáceas, los glóbulos asimétricos, el pigmento excéntrico asimétrico y el retículo invertido fueron las estructuras dermatoscópicas que se relacionaron significativamente con un tiempo menor para la presentación de melanoma (p<0,001, p=0,011, p=0,047 y p=0,001, respectivamente). Conclusiones En conclusión, se encontró que las principales características dermatoscópicas de las lesiones melanocíticas en pacientes con nevus displásicos relacionadas con la progresión a melanoma fueron la aparición de áreas blanco-grisáceas, los glóbulos asimétricos, las manchas asimétricas y el retículo invertido (AU)


Background and objective Atypical nevus syndrome has been described as one of the main risk factors for melanoma. The aim of this study was to analyze dermoscopic changes observed in melanocytic lesions over a follow-up period of 5 years in patients with atypical nevus syndrome. Material and methods We conducted a retrospective follow-up study of a cohort of patients seen at a specialized skin cancer and digital body mapping clinic in Medellin, Colombia, between January 2017 and December 2022. We analyzed the dermoscopic changes observed during this period and explored their association with newly diagnosed melanoma. Results A total of 368 patients (187 women) with a median (interquartile range) age of 43 (37-51) years were included. The dermoscopic features observed at 5 years were an atypical network (222 patients, 60.3%), asymmetric globules (163, 44.2%), white-gray regression areas (105, 28.5%), lesion regression (72, 19.5%), a negative pigment network (59, 16%), asymmetric eccentric pigmentation (28, 7.6%), asymmetric projections (21, 5.7%), and asymmetric vascular patterns (8, 2.1%). Melanoma was diagnosed in 12.2% of patients during follow-up. Features significantly associated with a shorter time to melanoma onset were grayish-white areas (P <.001), asymmetric globules (P=.011), asymmetric eccentric pigmentation (P=.047), and a negative pigment network (P=.001). Conclusions The main dermoscopic features of melanocytic lesions in patients with atypical nevus syndrome associated with progression to melanoma were grayish-white areas, asymmetric globules, asymmetric spots, and a negative pigment network (AU)


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Dermoscopia/métodos , Nevo/diagnóstico por imagem , Nevo/patologia , Progressão da Doença , Melanoma/diagnóstico por imagem , Melanoma/patologia , Seguimentos , Estudos Retrospectivos , Estudos de Coortes
4.
Actas dermo-sifiliogr. (Ed. impr.) ; 115(2): t130-t136, feb. 2024. tab, graf
Artigo em Inglês | IBECS | ID: ibc-230307

RESUMO

Background and objective Atypical nevus syndrome has been described as one of the main risk factors for melanoma. The aim of this study was to analyze dermoscopic changes observed in melanocytic lesions over a follow-up period of 5 years in patients with atypical nevus syndrome. Material and methods We conducted a retrospective follow-up study of a cohort of patients seen at a specialized skin cancer and digital body mapping clinic in Medellin, Colombia, between January 2017 and December 2022. We analyzed the dermoscopic changes observed during this period and explored their association with newly diagnosed melanoma. Results A total of 368 patients (187 women) with a median (interquartile range) age of 43 (37-51) years were included. The dermoscopic features observed at 5 years were an atypical network (222 patients, 60.3%), asymmetric globules (163, 44.2%), white-gray regression areas (105, 28.5%), lesion regression (72, 19.5%), a negative pigment network (59, 16%), asymmetric eccentric pigmentation (28, 7.6%), asymmetric projections (21, 5.7%), and asymmetric vascular patterns (8, 2.1%). Melanoma was diagnosed in 12.2% of patients during follow-up. Features significantly associated with a shorter time to melanoma onset were grayish-white areas (P <.001), asymmetric globules (P=.011), asymmetric eccentric pigmentation (P=.047), and a negative pigment network (P=.001). Conclusions The main dermoscopic features of melanocytic lesions in patients with atypical nevus syndrome associated with progression to melanoma were grayish-white areas, asymmetric globules, asymmetric spots, and a negative pigment network (AU)


Antecedentes y objetivo El síndrome de nevus atípico se ha considerado uno de los factores más importantes para el desarrollo de melanoma. El objetivo de este estudio fue describir los cambios dermatoscópicos de las lesiones melanocíticas en pacientes con diagnóstico de síndrome de nevus atípicos, durante el seguimiento digital en 5 años. Material y métodos Se realizó un estudio retrospectivo de seguimiento a una cohorte de pacientes atendidos en un consultorio particular, especializado en cáncer de piel y mapeo digital corporal, localizado en Medellín (Colombia), entre enero de 2017 y diciembre de 2022. Se analizaron las características dermatoscópicas encontradas y su relación con el diagnóstico de un melanoma. Resultados Se incluyeron 368 pacientes, con una mediana de edad de 43 años RIQ (37-51) de los cuales,187 fueron mujeres. Al finalizar el seguimiento, 222 (60,3%) presentaron red atípica, 163 (44,2%) glóbulos asimétricos, 105 (28,5%) regresión blanco gris, 72 (19,5%) regresión de la lesión, 59 (16%) retículo invertido, 28 (7,6%) pigmento excéntrico asimétrico, 21 (5,7%) proyecciones asimétricas y 8 (2,1%) asimetría en el patrón vascular. A los 60 meses de seguimiento a un 12,2% se les diagnosticó un melanoma. Las áreas blanco-grisáceas, los glóbulos asimétricos, el pigmento excéntrico asimétrico y el retículo invertido fueron las estructuras dermatoscópicas que se relacionaron significativamente con un tiempo menor para la presentación de melanoma (p<0,001, p=0,011, p=0,047 y p=0,001, respectivamente). Conclusiones En conclusión, se encontró que las principales características dermatoscópicas de las lesiones melanocíticas en pacientes con nevus displásicos relacionadas con la progresión a melanoma fueron la aparición de áreas blanco-grisáceas, los glóbulos asimétricos, las manchas asimétricas y el retículo invertido (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Dermoscopia/métodos , Nevo/diagnóstico por imagem , Nevo/patologia , Progressão da Doença , Melanoma/diagnóstico por imagem , Melanoma/patologia , Seguimentos , Estudos Retrospectivos , Estudos de Coortes
5.
Diagn Pathol ; 19(1): 8, 2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38184586

RESUMO

BACKGROUND: Cutaneous Melanocytic Tumor with CRTC1::TRIM11 Fusion (CMTCT) represents a novel and rare entity in the realm of dermatological oncology, characterized by distinct melanocytic differentiation. This particular tumor type has yet to be officially recognized by the World Health Organization (WHO). CMTCT is generally perceived as a tumor with a relatively indolent nature; however, it is not devoid of metastatic potential. Therefore, ensuring complete surgical excision of the tumor, coupled with rigorous long-term follow-up, is paramount for patient management. In this context, we report the case of an 18-year-old female patient who presented with a dull red nodule on her left leg. Initial surgical intervention led to a pathological diagnosis of CMTCT, but it was determined that the tumor had not been fully excised. Consequently, a second surgical procedure was undertaken to achieve complete removal of the tumor. During a follow-up period of six months post-surgery, the patient showed no signs of local recurrence or metastasis, indicating a successful outcome. CASE PRESENTATION: An 18-year-old female patient noticed a dull red nodule on her left leg three years ago, which exhibited slow growth over time. She underwent a subcutaneous tumor resection. Histological examination under high-power magnification revealed that the neoplasm consisted of epithelioid cells arranged in nests, fascicles, bundles, or sheets. The tumor cells had round or ovoid nuclei with prominent nucleoli and visible mitotic figures. Notably, areas resembling nevus cell clusters were observed. Immunohistochemical analysis confirmed melanocytic differentiation. Next-generation sequencing (NGS) identified a CRTC1::TRIM11 fusion, and fluorescence in situ hybridization (FISH) for CRTC1 confirmed rearrangement. Consequently, a diagnosis of cutaneous melanocytic tumor with CRTC1::TRIM11 fusion was established. CONCLUSIONS: CMTCT is a rare tumor characterized by melanocytic differentiation. In this case, the tumor predominantly comprised epithelioid cells with localized nevus cell clusters. The expression of melanocyte markers could easily lead to a misdiagnosis as cutaneous melanoma. However, several distinguishing features were noted: the tumor was not connected to the epidermis, exhibited low cellular heterogeneity and proliferation index, and showed minimal cellular atypia. Additionally, tests for EWSR1 rearrangement (FISH) and BRAF V600E mutation (PCR-ARMS) were negative.This case underscores the importance of a comprehensive diagnostic approach when clinical, microscopic, immunohistochemical, and molecular findings do not align. The presence of nevus cell clusters morphology in the tumor cells enhances our understanding of this disease's histological spectrum and aids in avoiding misdiagnosis or missed diagnosis.


Assuntos
Melanoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Feminino , Humanos , Adolescente , Neoplasias Cutâneas/genética , Melanoma/genética , Hibridização in Situ Fluorescente , Fatores de Transcrição/genética , Proteínas com Motivo Tripartido , Ubiquitina-Proteína Ligases
6.
Acta Neuropathol Commun ; 12(1): 14, 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38254245

RESUMO

Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal proliferation of leptomeningeal melanocytes. Early acquisition of post-zygotic somatic mutations has been postulated to underlie the pathogenesis of NCM. The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus. The patient expired six months after the onset due to respiratory failure caused by abdominal dissemination via VP shunt. We performed multiregional exome sequencing to identify genomic differences among brain and abdominal tumors, nevus, and normal tissues. A total of 87 somatic mutations were found in 71 genes, with a significantly large number of gene mutations found in the tumor site. The genetic alterations detected in the nevus were only few and not shared with other sites. Three mutations, namely GNAQ R183Q, S1PR3 G89S and NRAS G12V, considered pathogenic, were found, although S1PR3 mutations have not been previously reported in melanocytic tumors. GNAQ and S1PR3 mutations were shared in both tumor and normal sites. Moreover, the mutant allele frequencies of the two mutations were markedly higher in tumor sites than in normal sites, with copy-neutral loss-of-heterozygosity (CN-LOH) occurring in tumor. NRAS mutation was found only in the abdominal tumor and was thought to be responsible for malignant progression in the present case. Multiregional comprehensive genetic analysis may lead to discovering novel driver mutations associated with tumorigenesis and targeted therapy.


Assuntos
Melanose , Síndromes Neurocutâneas , Nevo , Neoplasias Cutâneas , Feminino , Humanos , Pré-Escolar , Síndromes Neurocutâneas/genética , Mutação de Sentido Incorreto , Neoplasias Cutâneas/genética , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genética
7.
Skin Res Technol ; 30(1): e13559, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38174775

RESUMO

BACKGROUND: The clinical differential diagnosis of lesions arising on the eyelid margin may be challenging and an unneeded surgical approach may have serious functional and aesthetic consequences. Nonetheless, early recognition and treatment of malignant tumors of the eyelid margin is mandatory. Line-field confocal optical coherence tomography (LC-OCT) is a novel tool for the in vivo, real-time skin imaging. OBJECTIVES: The aim of the study was to identify and analyze the LC-OCT features of a series of eyelid margin growths and to correlate these features with the histopathological findings. METHODS: Patients with eyelid margin growths who were scheduled for lesion excision underwent LC-OCT examination. Inclusion criteria were a challenging clinical aspect of the lesions and a clinical history of recent onset (up to 12 months). In all cases, the histopathological examination of the excised lesions was performed for the final diagnosis. RESULTS: A total of 31 lesions located on the upper (13 cases) or lower (18 cases) eyelid margin from 28 consecutive patients (male = 15, female = 13; mean age: 64.7 years, range: 44-87 years) were evaluated and excised. The histopathologic diagnoses were nodular basal cell carcinoma (BCC) (nine cases), squamous cell carcinoma (SCC) (three cases), compound nevus (four cases), dermal nevus (two cases), seborrheic keratosis (four cases), pyogenic granuloma (one case), trichilemmal cyst (three cases), and hidrocystoma (five cases). LC-OCT allowed the in vivo recognition of the main microscopic features of the examined lesions. CONCLUSIONS: LC-OCT represents a promising tool for the evaluation of eyelid margin lesions. Advantages of non-invasive diagnosis particularly relevant in such a sensitive region include a more correct planning of the treatment and, in case of surgery, the most appropriate surgical approach and, importantly, a correct timing of intervention.


Assuntos
Carcinoma Basocelular , Nevo , Neoplasias Cutâneas , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Tomografia de Coerência Óptica , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/cirurgia , Carcinoma Basocelular/patologia , Pálpebras/diagnóstico por imagem , Pálpebras/cirurgia
9.
J Xray Sci Technol ; 32(1): 53-68, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38189730

RESUMO

BACKGROUND: With the rapid growth of Deep Neural Networks (DNN) and Computer-Aided Diagnosis (CAD), more significant works have been analysed for cancer related diseases. Skin cancer is the most hazardous type of cancer that cannot be diagnosed in the early stages. OBJECTIVE: The diagnosis of skin cancer is becoming a challenge to dermatologists as an abnormal lesion looks like an ordinary nevus at the initial stages. Therefore, early identification of lesions (origin of skin cancer) is essential and helpful for treating skin cancer patients effectively. The enormous development of automated skin cancer diagnosis systems significantly supports dermatologists. METHODS: This paper performs a classification of skin cancer by utilising various deep-learning frameworks after resolving the class Imbalance problem in the ISIC-2019 dataset. A fine-tuned ResNet-50 model is used to evaluate the performance of original data, augmented data, and after by adding the focal loss. Focal loss is the best technique to solve overfitting problems by assigning weights to hard misclassified images. RESULTS: Finally, augmented data with focal loss is given a good classification performance with 98.85% accuracy, 95.52% precision, and 95.93% recall. Matthews Correlation coefficient (MCC) is the best metric to evaluate the quality of multi-class images. It has given outstanding performance by using augmented data and focal loss.


Assuntos
Aprendizado Profundo , Nevo , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Nevo/patologia , Redes Neurais de Computação , Diagnóstico por Computador/métodos
11.
Retin Cases Brief Rep ; 18(1): 120-123, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36240079

RESUMO

BACKGROUND/PURPOSE: To describe the clinical, optical coherence tomography (OCT), fundus autofluorescence and ultrasound findings of a patient with a choroidal nevus actively exuding vitelliform material in the setting of autosomal dominant Best dystrophy (BD). METHODS: The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. RESULTS: A 71-year-old male patient with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic examination showed a small pigmented choroidal nevus in the temporal periphery. Over a 3-year period, the nevus developed progressive deposition of vitelliform material along its inferior border. Meanwhile, OCT and fundus photography showed only slight growth. Ultrasound showed no change in height; basal measurements were confounded by the increased vitelliform deposits. Genetic testing confirmed a heterozygous mutation in the BEST1 gene and electrophysiology was consistent with BD. CONCLUSIONS: Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implication for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.


Assuntos
Neoplasias da Coroide , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Distrofia Macular Viteliforme , Masculino , Humanos , Idoso , Distrofia Macular Viteliforme/complicações , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Epitélio Pigmentado da Retina/patologia , Neoplasias da Coroide/diagnóstico , Neoplasias da Coroide/patologia , Nevo Pigmentado/patologia , Tomografia de Coerência Óptica/métodos , Neoplasias Cutâneas/patologia , Bestrofinas
12.
Am J Dermatopathol ; 46(3): 173-174, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38153273

RESUMO

ABSTRACT: Porokeratotic eccrine ostial and dermal duct nevus is a rare adnexal hamartoma characterized by the presence of a cornoid lamella exclusively overlying eccrine acrosyringia. Different clinical presentations have been reported in the literature. Here, we report a case of a 6-year-old girl diagnosed with porokeratotic eccrine ostial and dermal duct nevus confirmed by histopathologic study. Atypical lesions are described as whitish, warty-looking neoformations located in the anterolateral region of the right hip (cutaneous horn).


Assuntos
Ceratose , Nevo , Poroceratose , Feminino , Humanos , Criança , Ceratose/patologia , Poroceratose/patologia , Glândulas Sudoríparas/patologia , Perna (Membro)/patologia , Nevo/patologia , Glândulas Écrinas/patologia
13.
Sci Rep ; 13(1): 22790, 2023 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-38123698

RESUMO

It is important but challenging for prospective health professionals to learn the visual distinction between potentially harmful and harmless skin lesions, such as malignant melanomas and benign nevi. Knowledge about factors related to diagnostic performance is sparse but a prerequisite for designing and evaluating evidence-based educational interventions. Hence, this study explored how the characteristics of 240 skin lesions, the number of classified lesions and the response times of 137 laypeople were related to performance in diagnosing pigmented skin cancer. Our results showed large differences between the lesions, as some were classified correctly by more than 90% and others by less than 10% of the participants. A t-test showed that for melanomas, the correct diagnosis was provided significantly more often than for nevi. Furthermore, we found a significant Pearson correlation between the number of solved tasks and performance in the first 50 diagnostic tasks. Finally, t-tests for investigating the response times revealed that compared to true decisions, participants spent longer on false-negative but not on false-positive decisions. These results provide novel knowledge about performance-related factors that can be useful when designing diagnostic tests and learning interventions for melanoma detection.


Assuntos
Melanoma , Nevo , Transtornos da Pigmentação , Dermatopatias , Neoplasias Cutâneas , Humanos , Sensibilidade e Especificidade , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Melanoma/diagnóstico , Melanoma/patologia
14.
BMJ Case Rep ; 16(11)2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-37949469

RESUMO

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by vascular malformations mostly of the skin and gastrointestinal tract and less commonly of the central nervous system, liver, thyroid, spleen and lungs. We report a rare case of BRBNS in a patient on anticoagulation who presented with gastrointestinal bleeding and no cutaneous or other organ involvement. We discuss the difficulty in balancing bleeding and clotting risks in this patient who developed two episodes of venous thromboembolism while off anticoagulation to minimise gastrointestinal bleeding. We also highlight the potential role of somatostatin analogues such as lanreotide in decreasing gastrointestinal bleeding risk in BRBNS, particularly in the setting of anticoagulation. The occurrence of two episodes of venous thromboembolism within a short time frame in this case, in conjunction with known associations between other vascular anomalies and venous thromboembolism, raises the question of whether BRBNS may be associated with a prothrombotic state.


Assuntos
Nevo , Neoplasias Cutâneas , Malformações Vasculares , Tromboembolia Venosa , Humanos , Tromboembolia Venosa/tratamento farmacológico , Tromboembolia Venosa/complicações , Neoplasias Cutâneas/complicações , Hemorragia Gastrointestinal/induzido quimicamente , Hemorragia Gastrointestinal/complicações , Malformações Vasculares/complicações , Anticoagulantes/efeitos adversos
15.
Invest Ophthalmol Vis Sci ; 64(14): 6, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37930688

RESUMO

Purpose: The purpose of this study was to demonstrate the utility of polarization-diversity optical coherence tomography (PD-OCT), a noninvasive imaging technique with melanin-specific contrast, in the quantitative and qualitative assessment of choroidal nevi. Methods: Nevi were imaged with a custom-built 55-degree field-of-view (FOV) 400 kHz PD-OCT system. Imaging features on PD-OCT were compared to those on fundus photography, auto-fluorescence, ultrasound, and non-PD-OCT images. Lesions were manually segmented for size measurement and metrics for objective assessment of melanin distributions were calculated, including degree of polarization uniformity (DOPU), attenuation coefficient, and melanin occupancy rate (MOR). Results: We imaged 17 patients (mean age = 69.5 years, range = 37-90) with 11 pigmented, 3 non-pigmented, and 3 mixed pigmentation nevi. Nevi with full margin acquisition had an average longest basal diameter of 5.1 mm (range = 2.99-8.72 mm) and average height of 0.72 mm (range = 0.37 mm-2.09 mm). PD-OCT provided clear contrast of choroidal melanin content, distribution, and delineation of nevus margins for melanotic nevi. Pigmented nevi were found to have lower DOPU, higher attenuation coefficient, and higher MOR than non-pigmented lesions. Melanin content on PD-OCT was consistent with pigmentation on fundus in 15 of 17 nevi (88%). Conclusions: PD-OCT allows objective assessment of choroidal nevi melanin content and distribution. In addition, melanin-specific contrast by PD-OCT enables clear nevus margin delineation and may improve serial growth surveillance. Further investigation is needed to determine the clinical significance and prognostic value of melanin characterization by PD-OCT in the evaluation of choroidal nevi.


Assuntos
Neoplasias da Coroide , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Tomografia de Coerência Óptica , Melaninas , Nevo Pigmentado/diagnóstico por imagem , Nevo/diagnóstico por imagem , Neoplasias da Coroide/diagnóstico por imagem
16.
BMJ Case Rep ; 16(11)2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38035677

RESUMO

Schimmelpenning-Feuerstein-Mims syndrome is a rare disorder generally characterised by a craniofacial nevus with multisystemic presentations. Our patient, an infant, was brought to the emergency department in a postictal state following a first seizure episode. A physical examination showed a solitary dark brown, well-demarcated verrucous plaque extending from the patient's left temporal region to the left mandible without crossing the midline. Epibulbar choristomas were present on the ipsilateral side of the craniofacial lesion. Neuroimaging showed benign enlargement of the subarachnoid space. Due to the known risk of seizures associated with this condition, the patient was started on levetiracetam and showed adequate compliance. We present this as the first reported case of Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of the subarachnoid space in an infant presenting with seizures to emphasise the value of collaboration among multidisciplinary professionals to improve the quality of care for such patients.


Assuntos
Nevo Sebáceo de Jadassohn , Nevo , Neoplasias Cutâneas , Humanos , Lactente , Convulsões/etiologia , Convulsões/complicações , Neoplasias Cutâneas/complicações , Espaço Subaracnóideo/diagnóstico por imagem
17.
Georgian Med News ; (342): 47-53, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37991956

RESUMO

The purposeful oblivion of the objective truth, the disregard of scientific reality, the denial of the contributions and successes of surrounding researchers, the substitution of priorities in clinical routine and the unwillingness to reason in the right direction often lead to disastrous consequences in the field of public health. Controlled projects almost never lead to a significant contribution or breakthrough in medicine that will be remembered by future generations. Another illustrative example in this regard is the link shared above to the saga of the worldwide cancer pandemic and its possible real cause: the contamination of drugs with nitrosamines/NDSRIs. The carcinogenic action of nitrosamines in rats under experimental conditions was demonstrated as early as the early 1960s (1954) by Barnes and Magee. The series of subsequent experiments in their numerous research studies was strongly indicative of a pathogenetic role of nitrosamines / dimethylnitrosamine / in the development of liver cancer and kidney cancer. Starting from the fact that contact with nitrosamines is of primary importance for the development of tumours in animals, there is practically no circumstance that would lead us to believe that the intake of the same mutagens in man would have a different carcinogenic effect from that already known to us (as was found under experimental conditions as early as 1954, but in animals). On the contrary, to this day the incidence of cancer is increasing every year and, according to global statistics, it is projected to increase by nearly 50% or 18 million new cases by 2040. The intake of (un)identified nitrosamines found in drugs as contaminants is increasing analogously to the shared breakneck cancer incidence. In addition to the number of identified carcinogens or NDSRIs, the number of affected drug classes is also progressively growing and in mid-2023 this number amounts to over 250 drugs according to the official data of the FDA bulletin of 08.04.2023. In practice, the population/patients have been in a continuous, still ongoing, multicentric prospective study since 1954. The parameters of the ˝experiment˝ are probably pre-set, crystallizing gradually over time and imposed forcefully in the form of hypnotic suggestions and directives by regulators. Encouragingly , the results of the prospective study are also available, are not one-sided and have been published in dozens of international journals as well as in part in the well-known Cancer Journal of the clinicians / Impact factor 254,7. The bad news is that in most of these observations and results, there is no correlation of what is shared between, say, 1) mandatory alternative-free intake of mutagen-contaminated drugs and 2) the breakneck development of heterogeneous cancers/including melanomas, and the scientific vision of the studies is currently rather one-sided. Cancer incidence is skyrocketing (according to Globocan/Cancer Journal for the Clinicians), and not a single worldwide study has commented on its potential link to actual contamination of the most commonly used drugs worldwide with nitrosamines/NDSRIs. For the past 5 years, the team of the Bulgarian Society of Dermatological Surgery has been committed to formalizing the final results of these prospective nationwide observational studies and providing full transparency on the relationship between the intake of actual/potential nitrosamine-contaminated drugs and the development of skin cancer. Over 95% of newly reported skin cancers during this period (2016-2023) were associated with prior intake of drugs listed in the 2023 FDA as potentially nitrosamine/NDSRIs contaminated or carcinogens. Melanoma is one of the most significant patterns of tumor arising after contact of the human body with nitrosamines. Whether the drugs affected by the contamination are from the group of sartans, beta blockers, hydrochlorothiazide, calcium antagonists, ACE inhibitors or antidepressants- the ultimate side effect remains the same and is known to the scientific community as or by the frightening and loud name : melanoma. We report the occurrence of another case of nevus associated cutaneous melanoma and multiple dysplastic nevi after taking the antidepressant Sertraline. A drug declared according to the official FDA bulletin of 08.04.2023 as potentially contaminated with class 2 nitrosamines/ NDSRIs: having similar to completely identical carcinogenic potency as that of NDMA and NNK. Or reciprocal to that in valsartan, irbesartan, olmesartan, repeatedly described already as possible melanoma inducers. According to the literature search, this is also the first case in the world of Sertraline-induced nevus associated cutaneous melanoma, and we share the view/ thesis that the real inducer of the tumor is in fact the impurities in the medication in the form of contaminants or nitrosamines: the so-called NDSRIs. The nitrosogenesis of skin cancer is a more than significant concept that has been cleverly concealed by the scientific community until recently. The reason for this concealment could be sought in the paramount importance or central role that the nitrosogenesis occupies at the base of the "pyramid" guaranteeing billions of dollars of monthly revenue to the regulators of globalism.


Assuntos
Melanoma , Nevo Pigmentado , Nevo , Nitrosaminas , Neoplasias Cutâneas , Humanos , Ratos , Animais , Melanoma/induzido quimicamente , Melanoma/epidemiologia , Neoplasias Cutâneas/induzido quimicamente , Neoplasias Cutâneas/epidemiologia , Estudos Prospectivos , Sertralina , Nitrosaminas/toxicidade , Carcinógenos/toxicidade , Antidepressivos
19.
JAMA Dermatol ; 159(11): 1223-1231, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37792351

RESUMO

Importance: Artificial intelligence (AI) training for diagnosing dermatologic images requires large amounts of clean data. Dermatologic images have different compositions, and many are inaccessible due to privacy concerns, which hinder the development of AI. Objective: To build a training data set for discriminative and generative AI from unstandardized internet images of melanoma and nevus. Design, Setting, and Participants: In this diagnostic study, a total of 5619 (CAN5600 data set) and 2006 (CAN2000 data set; a manually revised subset of CAN5600) cropped lesion images of either melanoma or nevus were semiautomatically annotated from approximately 500 000 photographs on the internet using convolutional neural networks (CNNs), region-based CNNs, and large mask inpainting. For unsupervised pretraining, 132 673 possible lesions (LESION130k data set) were also created with diversity by collecting images from 18 482 websites in approximately 80 countries. A total of 5000 synthetic images (GAN5000 data set) were generated using the generative adversarial network (StyleGAN2-ADA; training, CAN2000 data set; pretraining, LESION130k data set). Main Outcomes and Measures: The area under the receiver operating characteristic curve (AUROC) for determining malignant neoplasms was analyzed. In each test, 1 of the 7 preexisting public data sets (total of 2312 images; including Edinburgh, an SNU subset, Asan test, Waterloo, 7-point criteria evaluation, PAD-UFES-20, and MED-NODE) was used as the test data set. Subsequently, a comparative study was conducted between the performance of the EfficientNet Lite0 CNN on the proposed data set and that trained on the remaining 6 preexisting data sets. Results: The EfficientNet Lite0 CNN trained on the annotated or synthetic images achieved higher or equivalent mean (SD) AUROCs to the EfficientNet Lite0 trained using the pathologically confirmed public data sets, including CAN5600 (0.874 [0.042]; P = .02), CAN2000 (0.848 [0.027]; P = .08), and GAN5000 (0.838 [0.040]; P = .31 [Wilcoxon signed rank test]) and the preexisting data sets combined (0.809 [0.063]) by the benefits of increased size of the training data set. Conclusions and Relevance: The synthetic data set in this diagnostic study was created using various AI technologies from internet images. A neural network trained on the created data set (CAN5600) performed better than the same network trained on preexisting data sets combined. Both the annotated (CAN5600 and LESION130k) and synthetic (GAN5000) data sets could be shared for AI training and consensus between physicians.


Assuntos
Melanoma , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Humanos , Inteligência Artificial , Melanoma/diagnóstico , Melanoma/patologia , Nevo/diagnóstico , Nevo/patologia , Redes Neurais de Computação , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
20.
Am J Dermatopathol ; 45(11): 748-752, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37856738

RESUMO

ABSTRACT: Acral lentiginous melanoma (ALM) is a relatively rare clinicopathologic subtype of cutaneous malignant melanoma, but it is the most common type of melanoma among Asians. Although the research to identify immunohistochemical (IHC) markers to differentiate nevi from melanoma is being conducted, specific markers for ALM are not well-known. Therefore, we aimed to analyze and compare the differences in the expression of melanocyte-associated IHC markers between ALM and acral benign nevi (ABN). Two independent groups of 53 and 19 paraffin-embedded specimens (from patients with pathologically confirmed ALM and ABN, respectively) were subjected to IHC staining for MART-1, preferentially expressed antigen in melanoma (PRAME), SOX10, HMB-45, Ki-67, and p16. We performed a quantitative analysis of PRAME, SOX10, KI-67, and p16 expression and gradient pattern analysis of HMB-45 expression for each specimen. The PRAME (60.1% and 28.5%, P < 0.05) and Ki-67 (7.8% and 3.5%, P < 0.05) expression levels were significantly higher in the ALM group than in the ABN group. The p16 expression was significantly lower (14.2% and 19.4%, P < 0.05), and the absence of HMB-45 gradient was more frequent in the ALM group than in the ABN group. However, no statistical significance was noted in SOX10 (54.8% and 44.7%). Receiver operating characteristic curves showed that PRAME had the highest area under the curve value. In summary, among various IHC markers, PRAME was the most valuable marker for the diagnosis of ALM; however, further large-scale studies are needed to validate these findings.


Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Nevo , Neoplasias Cutâneas , Humanos , Antígeno Ki-67 , Melanoma/patologia , Neoplasias Cutâneas/metabolismo , Melanócitos/patologia , Anticorpos Monoclonais , Antígenos de Neoplasias/análise
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