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OBJECTIVE: Anaplastic lymphoma kinase (ALK) gene has been demonstrated to be rearranged, mutated or amplified in several haematological and solid tumors. Moreover, the use of ALK inhibitors has recently revolutionized the treatment of ALK-rearranged patients affected by non-small cell lung carcinoma. Herein we review the genetic alterations of ALK in melanocytic neoplasms described in literature, focusing on their potential diagnostic and predictive role. MATERIALS AND METHODS: The Authors reviewed the pertinent literature through research on PubMed server was performed typing the terms "ALK", "Anaplastic lymphoma kinase", "ALKATI", "Melanoma", "Spitz", "Spitzoid". RESULTS: ALK translocations were demonstrated in melanocytic neoplasms, particularly in acral melanoma and spitzoid tumors. ALKATI was described in primary and metastatic melanoma, indicating its early occurrence in oncogenesis, with varying immunohistochemical expression of the protein. CONCLUSIONS: The identification of the specific type of ALK mutations could be interesting for planning biologic therapy of melanoma patients. Further studies are needed to evaluate the possibility to introduce an ALK-targeted therapy in patients affected by malignant melanoma.
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Quinase do Linfoma Anaplásico/genética , Melanoma/diagnóstico , Melanoma/enzimologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/enzimologia , Quinase do Linfoma Anaplásico/análise , Quinase do Linfoma Anaplásico/metabolismo , Humanos , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely influence developmental outcome. Although early diagnosis of TSC has offered a tremendous opportunity to monitor affected patients before seizure onset, reports of the neurological manifestations of TSC in infants before seizure onset are still scarce. Here we describe early EEG activity, clinical and genetic data and developmental assessment in a group of TSC infants, with the aim of identifying possible prognostic factors for neurodevelopmental outcome. METHODS: We report on six infants diagnosed with TSC pre- or perinatally, who underwent serial Video-EEG recordings during the first two years of life. EEGs were classified based on distribution and intensity of interictal epileptiform discharges, and Vigabatrin was introduced in case of ictal discharges. Psychomotor development, cognitive functioning and behavioral problems were assessed through standardized scales. Molecular testing included analysis for point mutations and deletions/duplications in TSC1 and TSC2. RESULTS: EEG abnormalities appeared at a mean age of 4 months. Four of the six patients developed seizures. EEG abnormalities preceded the onset of clinical seizures in all of them. The two individuals with good seizure control showed normal development, while the other two exhibited psychomotor delays. The patients who did not develop seizures had normal development. A pathogenic variant in the TSC2 gene was detected in all patients but one. The one without a mutation identified did not develop seizures and showed normal neurodevelopment. Of note, the two patients presenting with the worst outcome (that is, poor seizure control and intellectual/behavioral disability) both carried pathogenic variants in the GAP domain of TSC2. CONCLUSION: Our report supports the importance of EEG monitoring before seizure onset in patients with TSC, and the correlation between prompt seizure control and positive neurodevelopmental outcome, regardless of seizure type. Our results also indicate a possible role of the genetic background in influencing the outcome.
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Transtornos do Neurodesenvolvimento/etiologia , Convulsões/etiologia , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Pré-Escolar , Diagnóstico Precoce , Eletroencefalografia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Estudos Retrospectivos , Convulsões/diagnóstico , Esclerose Tuberosa/complicaçõesRESUMO
BACKGROUND: Pink skin tumours are difficult to differentiate, clinically and dermoscopically. In previous studies, mainly focused on pigmented lesions, pattern analysis provided the best sensitivity and specificity values, as compared to other algorithms. These findings suggest that the global dermoscopic appearance, based on the evaluation of prevalent features, could represent a valuable and practical approach even when dealing with pink lesions. OBJECTIVE: In this study, we aimed to evaluate the diagnostic accuracy of a new dermoscopic approach for pink tumours based on the prevalent criterion, as compared to a standard diagnostic method (Menzies algorithm). METHODS: The databases of two referral centres were retrospectively evaluated to retrieve dermoscopic images of amelanotic/hypomelanotic skin lesions. Two experts in dermoscopy, blinded for the final diagnosis and for clinical and demographic information, evaluated separately dermoscopic pictures of 1000 lesions according to the Menzies score and to the prevalent criterion method. RESULTS: According to the high sensitivity model of the Menzies score, 129 (12.9%) lesions were considered as non-suspicious (of which 16 were false negative) and 871 (87.1%) as suspicious (of which 212 were false positive), with 97.6% sensitivity and 34.8% specificity. According to the high specificity model, 370 (37%) lesions were evaluated as non-suspicious (of which 105 were false negative) and 630 (63%) as suspicious (of which 60 were false positive), with 84.4% sensitivity and 81.5% specificity. Concerning the prevalent criterion method, 316 (31.6%) lesions were evaluated as non-suspicious (of which 46 were false negative) and 684 (68.4) as suspicious (of which 55 were false positive), with 93.2% sensitivity and 83.1% specificity. CONCLUSIONS: This study demonstrated that focusing on the prevalent dermoscopic features could allow to detect malignant pink tumours with similar sensitivity but higher specificity than using the conventional Menzies scoring system.
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Algoritmos , Dermoscopia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Idoso , Área Sob a Curva , Cor , Diagnóstico Diferencial , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Estudos RetrospectivosAssuntos
Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Feminino , Férias e Feriados , Humanos , Masculino , Ombro , CônjugesRESUMO
INTRODUCTION: Peri-implant breast seroma is a late clinical presentation of reconstructive surgery or augmentation mammoplasty with breast implants. Pre-operative cytological evaluation of the peri-implant breast seroma is a common clinical approach, showing mainly an inflammatory reaction or more rarely a breast implant-associated anaplastic large cell lymphoma. Herein, we reported the role of cytology in the evaluation of peri-implant breast seroma and its critical pre-operative implications. METHODS: Eight cases of peri-implant breast seroma from files at Luigi Vanvitelli University were identified between January and December 2017. In all cases, seroma was aspirated; cytospins were performed and stained by Papanicolaou stain; finally, in all cases, a cell block was obtained for immunocytochemical evaluation and, in one case, for FISH to detect ALK1-gene translocation. RESULTS: The median age of patients was 48 years and the mean time between the implant placement and the occurrence of peri-implant breast seroma was 18 months. Microscopic examination showed breast implant-associated anaplastic large cell lymphoma in one case, aspecific inflammatory reaction in six cases and silicon-associated reaction in one case. CONCLUSIONS: Peri-implant breast seroma may be caused by several pathological conditions with different clinical behaviour. A proper cytological approach to peri-implant breast seroma allows a correct differential diagnosis between inflammatory conditions and breast implant-associated anaplastic large cell lymphoma and an appropriate management of the patient.
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Neoplasias da Mama/diagnóstico , Linfoma Anaplásico de Células Grandes/diagnóstico , Seroma/diagnóstico , Adulto , Implante Mamário/métodos , Implantes de Mama , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Vascular anomalies represent a heterogeneous group of pathologies of the circulatory system that can affect any type of hematic and /or lymphatic vessel of different diameter or anatomic site. The extreme variability of tissue types and districts involved by these lesions determines a wide heterogeneity of clinical manifestations, resulting in involvement of different medical expertise. In this context, a commonly agreed terminology is crucial for the appropriate evaluation and multidisciplinary management of patients. The ISSVA Classification that has its roots in the previous Classification of Mulliken and Glowacky distinguishes vascular anomalies in two main groups: vascular tumors and vascular malformations. In head and neck, where vascular anomalies are the most common benign lesions of infancy and childhood, correct diagnosis with the use of unequivocal terminology is more crucial for treatment considering the relevance of structures that can be involved. The aim of this work has been to clarify information and knowledges currently available in the field of vascular anomalies. Referring to ISSVA Classification, clinico- histopathological aspects of each entity have been elucidated.
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Pescoço/patologia , Malformações Vasculares , Neoplasias Vasculares , Hemangioma , Humanos , Pescoço/irrigação sanguíneaAssuntos
Alopecia/etiologia , Neoplasias de Cabeça e Pescoço/patologia , Melanoma/patologia , Couro Cabeludo , Neoplasias Cutâneas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Alopecia/patologia , Feminino , Neoplasias de Cabeça e Pescoço/complicações , Humanos , Masculino , Melanoma/complicações , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/complicaçõesRESUMO
Spitzoid lesions represent a challenging and controversial group of tumours, in terms of clinical recognition, biological behaviour and management strategies. Although Spitz naevi are considered benign tumours, their clinical and dermoscopic morphological overlap with spitzoid melanoma renders the management of spitzoid lesions particularly difficult. The controversy deepens because of the existence of tumours that cannot be safely histopathologically diagnosed as naevi or melanomas (atypical Spitz tumours). The dual objective of the present study was to provide an updated classification on dermoscopy of Spitz naevi, and management recommendations of spitzoid-looking lesions based on a consensus among experts in the field. After a detailed search of the literature for eligible studies, a data synthesis was performed from 15 studies on dermoscopy of Spitz naevi. Dermoscopically, Spitz naevi are typified by three main patterns: starburst pattern (51%), a pattern of regularly distributed dotted vessels (19%) and globular pattern with reticular depigmentation (17%). A consensus-based algorithm for the management of spitzoid lesions is proposed. According to it, dermoscopically asymmetric lesions with spitzoid features (both flat/raised and nodular) should be excised to rule out melanoma. Dermoscopically symmetric spitzoid nodules should also be excised or closely monitored, irrespective of age, to rule out atypical Spitz tumours. Dermoscopically symmetric, flat spitzoid lesions should be managed according to the age of the patient. Finally, the histopathological diagnosis of atypical Spitz tumour should warrant wide excision but not a sentinel lymph-node biopsy.
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Dermoscopia/métodos , Nevo de Células Epitelioides e Fusiformes/terapia , Neoplasias Cutâneas/terapia , Algoritmos , Consenso , Diagnóstico Diferencial , Humanos , Margens de Excisão , Melanoma/patologia , Melanoma/terapia , Nevo de Células Epitelioides e Fusiformes/patologia , Guias de Prática Clínica como Assunto , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: Digital dermoscopy monitoring (DDM) is an effective strategy for melanoma detection. Two methods are currently employed. Short-term follow-up (STFU) for the evaluation of single, atypical lesions to detect subtle changes over a short period of time (3-6 months). Long-term follow-up (LTFU) is recommended for patients with multiple nevi. Although a study demonstrated that STFU improves the patients' compliance for DDM, little remains known about the impact and reliability of STFU in this setting. OBJECTIVES: The aim of this retrospective, observational study was to evaluate the impact and reliability of a schedule combining STFU and LTFU in patients with multiple atypical nevi. METHODS: We searched our database for all cases of patients with multiple atypical nevi occurring between 2006 and 2014. RESULTS: A total of 3823 lesions in 541 patients were dermoscopically monitored (mean number = 7 lesions per patient; median = 6 lesions; range, 2-51). In all, 264 (6.9%) lesions in 184 (34.4%) patients were excised (mean of 0.5 lesions per patient). In total, 197 (74.6%) lesions were excised at follow-up, with melanomas representing 30.5% of lesions excised after follow-up. A total of 30 (33.3%) melanomas were excised at baseline, 23 (25.6%) after STFU and 37 (41.1%) after LTFU. There was no difference in the number of in situ melanomas detected at baseline with those detected after follow-up. The mean Breslow thickness of melanomas detected at baseline was higher than those detected after STFU (P = 0.038) and LTFU (P = 0.055). CONCLUSIONS: Our study confirm that digital dermoscopy follow-up is a valid management strategy for patients with multiple atypical nevi, with short-term monitoring playing an effective role also in this setting of patients.
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Dermoscopia/métodos , Melanoma/diagnóstico , Nevo/diagnóstico , Adolescente , Adulto , Idoso , Criança , Dermoscopia/estatística & dados numéricos , Diagnóstico Diferencial , Seguimentos , Humanos , Pessoa de Meia-Idade , Cooperação do Paciente , Estudos Retrospectivos , Adulto JovemRESUMO
INTRODUCTION: The increasing incidence of cutaneous melanoma and the still limited effective treatments available for this disease represent a major health problem and a great challenge for research. The raise of the "omics" era and the development of new techniques to explore phenotypic heterogeneity are helping to decipher the mechanisms at the basis of melanoma heterogeneity. AREAS COVERED: We reviewed the most recent publications about the biology of cutaneous melanoma, to provide an overview of the most recent insights into the complexity of this tumor and their potential impact in the clinical settings. Expert commentary: Starting from the first attempts to provide a molecular classification of melanoma, it has been evident that this tumor represents a widely heterogeneous disease. This complexity and the multivariate nature of melanoma represent a major obstacle in developing the best management strategies for patients.
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Melanoma , Técnicas de Diagnóstico Molecular , Neoplasias Cutâneas , Animais , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/metabolismo , Melanoma/patologia , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , Técnicas de Diagnóstico Molecular/tendências , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
The history of medicine is replete with examples of debunked myths, and in daily clinical dermatological practice, we must still counter many misconceptions regarding pigmented lesions, both with patients and other medical practitioners. Debunking myths and attempting to explain the reasons for these erroneous beliefs are the purposes of this review. The literature review has been partially guided by the results obtained from an online questionnaire conducted on an Italian website (www.vediamocichiara.it) from February 15, 2015 to March 15, 2015. The remaining discussed were selected on the basis of the existing literature and our personal experience. In order to explore these misconceptions, the following are the seven most salient questions that require investigation: (i) Is it dangerous to excise moles?; (ii) Is it dangerous to traumatize moles?; (iii) Are plantar moles worrisome?; (iv) Is it necessary to selectively apply sunscreen to moles?; (v) Is it inadvisable to partially biopsy a melanoma?; (vi) Do moles turn into melanoma?; and (vii) Is it necessary to perform sentinel lymph node biopsy for thin melanomas and for atypical Spitz naevi? Myths are ubiquitous, being prevalent in dermatological practice, with many of them concerning pigmented skin lesions. By encouraging critical analysis by patients and medical practitioners, the birth and perpetuation of myths can potentially be minimized, for the ultimate benefit of patients. This requires a scientific approach to be rigorously applied to dermatology, with critical questioning of unsubstantiated hypotheses including those emanating from the mass media as well as from respected sources.
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Dermatopatias/patologia , Pigmentação da Pele , Adulto , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Nevo/patologia , Nevo/cirurgia , Adulto JovemAssuntos
Dermoscopia/métodos , Nevo Pigmentado/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Adulto JovemRESUMO
Skin cancer is a major health problem because of its high incidence in white populations, as well as its related potential morbidity and mortality. Dermoscopy is a noninvasive tool that allows the identification of specific morphological features in different skin tumors, improving significantly the early diagnosis of melanoma and non-melanoma skin cancer (NMSC). This tool has also gained increased interest in the management of NMSC therapy and in the post-treatment follow-up. In this article, we provide a review of the dermoscopic patterns and criteria for the diagnosis of melanoma and NMSC described until now in the literature.