RESUMO
BACKGROUND: Metastatic carcinoma of unknown primary origin to the head and neck lymph nodes (HNCUP) engenders unique diagnostic considerations. In many cases, the detection of a high-risk human papillomavirus (HR-HPV) unearths an occult oropharyngeal squamous cell carcinoma (SCC). In metastatic HR-HPV-independent carcinomas, other primary sites should be considered, including cutaneous malignancies that can mimic HR-HPV-associated SCC. In this context, ultraviolet (UV) signature mutations, defined as ≥ 60% CâT substitutions with ≥ 5% CCâTT substitutions at dipyrimidine sites, identified in tumors arising on sun exposed areas, are an attractive and underused tool in the setting of metastatic HNCUP. METHODS: A retrospective review of institutional records focused on cases of HR-HPV negative HNCUP was conducted. All cases were subjected to next generation sequencing analysis to assess UV signature mutations. RESULTS: We identified 14 HR-HPV negative metastatic HNCUP to either the cervical or parotid gland lymph nodes, of which, 11 (11/14, 79%) had UV signature mutations, including 4 (4/10, 40%) p16 positive cases. All UV signature mutation positive cases had at least one significant TP53 mutation and greater than 20 unique gene mutations. CONCLUSION: The management of metastatic cutaneous carcinomas significantly differs from other HNCUP especially metastatic HR-HPV-associated SCC; therefore, the observation of a high percentage of CâT with CC âTT substitutions should be routinely incorporated in next generation sequencing reports of HNCUP. UV mutational signatures testing is a robust diagnostic tool that can be utilized in daily clinical practice.
Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Primárias Desconhecidas , Infecções por Papillomavirus , Neoplasias Cutâneas , Humanos , Neoplasias Primárias Desconhecidas/diagnóstico , Neoplasias Primárias Desconhecidas/genética , Neoplasias Primárias Desconhecidas/patologia , Infecções por Papillomavirus/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/genética , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Mutação , Papillomaviridae/genéticaRESUMO
Hidroacanthoma simplex is a rare intraepidermal neoplasia that arises from the acrosyringial portion of the eccrine duct. Malignant transformation of hidroacanthoma simplex is reported in the literature and the treatment is performed with wide excision or Mohs micrographic surgery. We report the first case successfully treated with cryosurgery with a long-term follow up.
Assuntos
Criocirurgia , Porocarcinoma Écrino/cirurgia , Poroma/cirurgia , Neoplasias das Glândulas Sudoríparas/cirurgia , Idoso , Dermoscopia , Porocarcinoma Écrino/patologia , Humanos , Masculino , Poroma/patologia , Neoplasias das Glândulas Sudoríparas/patologiaRESUMO
Abstract: Hidroacanthoma simplex is a rare intraepidermal neoplasia that arises from the acrosyringial portion of the eccrine duct. Malignant transformation of hidroacanthoma simplex is reported in the literature and the treatment is performed with wide excision or Mohs micrographic surgery. We report the first case successfully treated with cryosurgery with a long-term follow up.
Assuntos
Humanos , Masculino , Idoso , Neoplasias das Glândulas Sudoríparas/cirurgia , Criocirurgia , Poroma/cirurgia , Porocarcinoma Écrino/cirurgia , Neoplasias das Glândulas Sudoríparas/patologia , Dermoscopia , Poroma/patologia , Porocarcinoma Écrino/patologiaAssuntos
Foliculite/microbiologia , Tinha/microbiologia , Trichophyton/isolamento & purificação , Idoso , Antifúngicos/uso terapêutico , Biópsia , Face/microbiologia , Face/patologia , Dermatoses Faciais/tratamento farmacológico , Dermatoses Faciais/patologia , Foliculite/tratamento farmacológico , Humanos , Itraconazol/uso terapêutico , Masculino , Tinha/tratamento farmacológicoAssuntos
Humanos , Masculino , Idoso , Tinha/microbiologia , Trichophyton/isolamento & purificação , Foliculite/microbiologia , Tinha/tratamento farmacológico , Biópsia , Itraconazol/uso terapêutico , Face/microbiologia , Face/patologia , Dermatoses Faciais/patologia , Dermatoses Faciais/tratamento farmacológico , Foliculite/tratamento farmacológico , Antifúngicos/uso terapêuticoRESUMO
BACKGROUND: Exome and targeted sequencing studies have identified potential driver mutations for a variety of tumor types. Cutaneous squamous cell carcinoma (cSCC) is one of the most highly mutated cancers but typically is associated with low rates of metastasis and high survival rates. Nevertheless, metastatic cSCC is a significant health threat; up to 8800 individuals die each year of this disease. METHODS: Because it is difficult to predict which cSCCs are more likely to metastasize, and because to the best of the authors' knowledge there are no targeted therapies specifically designated for patients with metastatic cSCC, exome and/or targeted sequencing of 18 metastatic and 10 primary cSCCs was performed to identify mutations that were more frequent in metastatic tumors and might be targeted for therapeutic benefit. The authors compared their results with published sequencing results of an additional 223 primary tumors and 68 metastatic cSCCs. RESULTS: The authors identified genes demonstrating higher mutation frequencies in metastatic cSCC compared with primary tumors, including the chromatin remodeling gene lysine methyltransferase 2D (KMT2D) and the classic skin tumor suppressor tumor protein p53 (TP53), which was found to be mutated in 54% of primary tumors compared with 85% of metastatic tumors (P<.0001). CONCLUSIONS: These studies appear to uncover potential pathways that are important in metastatic cSCC and that broaden understanding of the biology contributing to aggressive tumor behavior. These results may lead to new therapeutic strategies. Cancer 2017;123:1184-1193. © 2016 American Cancer Society.
Assuntos
Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Mutação , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais , Análise Mutacional de DNA , Feminino , Regulação Neoplásica da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Taxa de Mutação , Gradação de Tumores , Metástase Neoplásica , Estadiamento de NeoplasiasRESUMO
Abstract Frontal fibrosing alopecia is a distinctive form of scarring alopecia considered to be a clinical variant of lichen planopilaris. It predominantly occurs in postmenopausal women and has a slowly progressive course. It was first described by Kossard in 1994. Since then the number of reported cases has increased significantly. Coexistence of frontal fibrosing alopecia and autoimmune disorders - such as discoid erythematosus lupus and Sjögren's syndrome - may suggest a common pathogenic background among the diseases.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Síndrome de Sjogren/complicações , Alopecia/complicações , Fibrose , Lúpus Eritematoso Discoide/complicações , Lúpus Eritematoso Discoide/patologia , Folículo Piloso/patologia , Derme/patologia , Alopecia/imunologia , Alopecia/patologia , Líquen Plano/imunologia , Líquen Plano/patologiaRESUMO
We describe the case of a 9-year-old boy with idiopathic bone marrow aplasia and severe neutropenia, who developed skin ulcers under cardiac monitoring electrodes. The diagnosis of primary cutaneous aspergillosis was made after the second biopsy and culture. Imaging investigation did not reveal internal fungal infection. The child was treated, but did not improve and died 3 months after admission. The report highlights and discusses the preventable risk of aspergillus skin infection in immunocompromised patients.
Assuntos
Anemia Aplástica/imunologia , Aspergilose/microbiologia , Aspergillus niger/isolamento & purificação , Dermatomicoses/microbiologia , Úlcera Cutânea/microbiologia , Anemia Aplástica/complicações , Aspergilose/complicações , Aspergilose/patologia , Criança , Dermatomicoses/complicações , Dermatomicoses/patologia , Eletrodos/efeitos adversos , Evolução Fatal , Humanos , Hifas/isolamento & purificação , Masculino , Necrose , Neutropenia/complicações , Úlcera Cutânea/patologiaRESUMO
Abstract: We describe the case of a 9-year-old boy with idiopathic bone marrow aplasia and severe neutropenia, who developed skin ulcers under cardiac monitoring electrodes. The diagnosis of primary cutaneous aspergillosis was made after the second biopsy and culture. Imaging investigation did not reveal internal fungal infection. The child was treated, but did not improve and died 3 months after admission. The report highlights and discusses the preventable risk of aspergillus skin infection in immunocompromised patients.
Assuntos
Humanos , Masculino , Criança , Aspergilose/microbiologia , Aspergillus niger/isolamento & purificação , Úlcera Cutânea/microbiologia , Dermatomicoses/microbiologia , Anemia Aplástica/imunologia , Aspergilose/complicações , Aspergilose/patologia , Úlcera Cutânea/patologia , Evolução Fatal , Hifas/isolamento & purificação , Dermatomicoses/complicações , Dermatomicoses/patologia , Eletrodos/efeitos adversos , Anemia Aplástica/complicações , Necrose , Neutropenia/complicaçõesRESUMO
Frontal fibrosing alopecia is a distinctive form of scarring alopecia considered to be a clinical variant of lichen planopilaris. It predominantly occurs in postmenopausal women and has a slowly progressive course. It was first described by Kossard in 1994. Since then the number of reported cases has increased significantly. Coexistence of frontal fibrosing alopecia and autoimmune disorders - such as discoid erythematosus lupus and Sjögren's syndrome - may suggest a common pathogenic background among the diseases.