RESUMO
Telomerase reverse transcriptase (TERT) promoter mutations are commonly found in malignant melanomas but rare in melanocytic nevi. To assess its potential diagnostic utility for the distinction of melanoma from nevus, we determined the TERT promoter mutation status of 86 primary melanomas, 72 melanocytic nevi, and 40 diagnostically problematic melanocytic proliferations. Of the 86 melanomas, 67 (77.9%) were TERT-positive, defined as harboring a hotspot TERT promoter mutation at positions -124C>T, -124_125CC>TT, -138_139CC>TT, or -146C>T. Of the 72 nevi, only 1 (1.4%) was TERT-positive. Of the 40 diagnostically uncertain melanocytic proliferations, 2 (5.0%) were TERT-positive. TERT positivity as a test for melanoma versus nevus had an accuracy of 87.3% [95% confidence interval (CI), 81.1-92.1], a sensitivity of 77.9% (95% CI, 68.9-85.4), a specificity of 98.6% (95% CI, 95.8-100), a positive predictive value of 98.5% (95% CI, 95.6-100), and a negative predictive value of 78.9% (95% CI, 72.6-85.4). Our results indicate that hotspot TERT promoter mutation status may be a useful ancillary parameter for the diagnosis of melanoma. In particular, the high specificity of these mutations for melanoma indicates the presence of a TERT promoter mutation in a melanocytic neoplasm associated with diagnostic controversy, or uncertainty should increase concern for a melanoma.
Assuntos
Melanoma/diagnóstico , Melanoma/genética , Regiões Promotoras Genéticas/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Telomerase/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Melanoma Maligno CutâneoRESUMO
Aplasia cutis congenita and cutaneous meningeal heterotopia are both rare congenital conditions that most commonly occur on the scalp and may appear clinically and histologically similar. A subtype of aplasia cutis congenita, membranous aplasia cutis congenita, and cutaneous meningeal heterotopia are both proposed to result from neural tube closure errors. However, neither non-membranous nor membranous aplasia cutis congenita are known to occur together with cutaneous meningeal heterotopia in the same lesion. We report the incidental finding of cutaneous meningeal heterotopia within a lesion of aplasia cutis congenita.
RESUMO
Systemic amyloidosis has historically been diagnosed by organ biopsy and Congo red staining, with reported sensitivities that exceed 90%. The abdominal fat pad fine needle aspiration (FNA), introduced in the 1970's, carries sensitivity estimates largely derived from studies with deficiencies. Patient follow-up is often unclear and proportionally low numbers of patients are verified as true negatives. Issues in other studies include only testing verified systemic amyloidosis cases. The telescoping fat pad biopsy (TFPB) is used as an alternative to FNA and is similarly carried out quickly with low morbidity. Although the two methods would seem to be comparable intuitively, this has not been established because sensitivity data for the TFPB method is scarce to non-existent. The charts of 58 consecutive patients who underwent TFPB screening for amyloidosis in a single hospital from August of 2010 to January 2015 were examined. All six TFPB positive patients were determined to be true positives. Eight TFPB negative patients were concurrently determined to have systemic amyloidosis by other methods - organ biopsy (7) and mass spectrometry (1) resulting in a 43% sensitivity. The remaining patients were categorized into 25 true negatives and 18 that were indeterminate based on clinical course and other biopsy results.
Assuntos
Tecido Adiposo/cirurgia , Amiloidose/diagnóstico , Biópsia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina/métodos , Reações Falso-Negativas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
Hair follicle nevi are rare, benign, congenital hamartomas that usually occur in the distribution of the first brachial arch. Histopathologically, the distinction between hair follicle nevus, trichofolliculoma, and accessory tragus has recently come into question, and it may be that they are all on a spectrum of the same condition. We report the case of a 7-day-old boy who presented with a "tag"-like lesion on his midline chin that had been present since birth. Biopsy of the lesion proved it to be a hair follicle nevus.
Assuntos
Doenças do Cabelo/patologia , Folículo Piloso/patologia , Nevo/patologia , Neoplasias Cutâneas/patologia , Queixo/patologia , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
We recently saw the case of an 8-year-old boy with histologic findings of spiradenocarcinoma. Malignant adnexal tumors in children are exceedingly rare, and cases of spiradenocarcinoma in children are absent in the literature. We report the case of an 8-year-old boy with metastatic spiradenocarcinoma. A biopsy 2 years before his presentation at our institution was interpreted as a benign lesion, but when the lesion regrew, a repeat biopsy was performed that demonstrated ominous findings, prompting a reexcision. This reexcision demonstrated an area with significant necrosis, many mitoses, and cellular pleomorphism apparently arising out of a sharply demarcated, adjacent, lower-grade area. The histologic features of this patient's biopsies were those of spiradenocarcinoma, potentially arising out of a preexisting spiradenoma, a finding that has not been documented previously in this age group. Staging studies demonstrated multiple bilateral pulmonary nodules, which were confirmed using thoracoscopic biopsy to be metastatic disease. His chemotherapy regimen has included several cycles of cisplatin and 5-flourouracil, with ongoing disease progression of pulmonary disease. It has been 16 months since he presented to our institution (>3 years since the appearance of his initial lesion). Imaging studies demonstrate a slowly increasing size and number of pulmonary lesions. The long-term prognosis is guarded.
Assuntos
Adenocarcinoma/secundário , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/secundário , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/metabolismo , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais/metabolismo , Criança , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Proteínas de Neoplasias/metabolismo , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/metabolismo , Neoplasias das Glândulas Sudoríparas/tratamento farmacológico , Neoplasias das Glândulas Sudoríparas/metabolismoRESUMO
Imiquimod is a topical immunomodulator used to treat genital warts and cutaneous malignancies that exerts its effects via induction of proinflammatory cytokines through activation of toll-like receptor (TLR) 7. Although subacute cutaneous lupus erythematosus (SCLE) has been reported in association with multiple systemic medications, SCLE in patients treated with topical agents has not been widely reported. We report the case of a 50-year-old woman with local induction of lesions that clinically and histologically resembled SCLE following treatment with topical imiquimod.
Assuntos
Aminoquinolinas/efeitos adversos , Fatores Imunológicos/efeitos adversos , Lúpus Eritematoso Cutâneo/induzido quimicamente , Feminino , Humanos , Imiquimode , Lúpus Eritematoso Cutâneo/patologia , Pessoa de Meia-IdadeRESUMO
BACKGROUND: BRAF mutation status, and therefore eligibility for BRAF inhibitors, is currently determined by sequencing methods. We assessed the validity of VE1, a monoclonal antibody against the BRAF V600E mutant protein, in the detection of mutant BRAF V600E melanomas as classified by DNA pyrosequencing. METHODS: The cases were 76 metastatic melanoma patients with only one known primary melanoma who had had BRAF codon 600 pyrosequencing of either their primary (n = 19), metastatic (n = 57) melanoma, or both (n = 17). All melanomas (n = 93) were immunostained with the BRAF VE1 antibody using a red detection system. The staining intensity of these specimens was scored from 0 to 3+ by a dermatopathologist. Scores of 0 and 1+ were considered as negative staining while scores of 2+ and 3+ were considered positive. RESULTS: The VE1 antibody showed a sensitivity of 85% and a specificity of 100% as compared to DNA pyrosequencing results. There was 100% concordance between VE1 immunostaining of primary and metastatic melanomas from the same patient. V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1. CONCLUSIONS: This hospital-based study finds high sensitivity and specificity for the BRAF VE1 immunostain in comparison to pyrosequencing in detection of BRAF V600E in melanomas.
Assuntos
Anticorpos Monoclonais , Imuno-Histoquímica , Melanoma/diagnóstico , Proteínas Proto-Oncogênicas B-raf/metabolismo , Neoplasias Cutâneas/diagnóstico , Biomarcadores Tumorais/metabolismo , Humanos , Melanoma/genética , Melanoma/metabolismo , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Sensibilidade e Especificidade , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismoRESUMO
Drug rash with eosinophilia and systemic symptoms (DRESS) is a severe drug-induced hypersensitivity syndrome that presents with diffuse cutaneous eruptions, fever, and multiorgan involvement. Here we present a pediatric case of DRESS complicated by human herpesvirus (HHV)-6 reactivation. After 1 week of sulfasalazine, our patient developed a diffuse morbilliform eruption. Sulfasalazine was discontinued. The patient presented to the emergency department soon thereafter with worsening eruption, fever, rigors, facial edema, and lymphadenopathy. Methylprednisolone was initiated. Peripheral smear did not demonstrate eosinophilia but showed toxic granulation with atypical lymphocytes. Transaminase levels and white blood cell count quickly became elevated, with increased eosinophils, suggesting DRESS. During the methylprednisolone taper, our patient experienced symptom exacerbation, acute hepatitis, and HHV-6 seroconversion, indicating HHV-6 reactivation as the cause. As demonstrated by our patient, a decelerated methylprednisone taper is important because of potential symptom flaring during taper. Additionally, in the care of individuals with DRESS, HHV-6 is often tested for upon admission and not repeated. Delay in the rise of titers necessitates repeat testing.
Assuntos
Síndrome de Hipersensibilidade a Medicamentos/patologia , Síndrome de Hipersensibilidade a Medicamentos/virologia , Eosinofilia/virologia , Exantema Súbito/patologia , Herpesvirus Humano 6/fisiologia , Ativação Viral , Adolescente , Eosinofilia/patologia , Humanos , MasculinoRESUMO
BACKGROUND: Vulvar eczematous dermatitis predisposes patients to superimposed infections, which may result in late diagnosis and architectural destruction. Methicillin-resistant Staphylococcus aureus (MRSA) infection is on the rise in genitalia and lower extremities. CASE: A 44-year-old woman presented with recurrent vulvar lesions and pain. A diagnosis of MRSA in the setting of eczema was achieved with concomitant use of photography and dermatopathologic review. Antibiotics were tailored to the resistant infection and preventative moisturization therapy was utilized. CONCLUSION: Awareness of dermatologic conditions affecting the vulva is principal in routine gynecologic care. Barrier protection of eczematous vulvar skin may prevent superficial infections. The regular use of photographic documentation and dermatopathology may decrease time to diagnosis with infrequent or rare conditions.
Assuntos
Eczema/microbiologia , Staphylococcus aureus Resistente à Meticilina , Infecções Estafilocócicas/diagnóstico , Doenças da Vulva/microbiologia , Adulto , Eczema/patologia , Feminino , Humanos , Infecções Oportunistas/diagnóstico , Fotografação , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/patologia , Doenças da Vulva/patologiaAssuntos
Doença de Bowen/cirurgia , Efeito Espectador/imunologia , Cirurgia de Mohs , Neoplasias Cutâneas/cirurgia , Doença de Bowen/imunologia , Doença de Bowen/terapia , Terapia Combinada , Dedos , Humanos , Hospedeiro Imunocomprometido , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Masculino , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/terapia , Adulto JovemRESUMO
Lupus erythematosus panniculitis (LEP) is a rare finding in children, with only 12 fully reported prior cases in the English literature. We describe three cases of LEP in children younger than 18 and compare them to previous cases reported in the literature. We examine laboratory tests performed, biopsy results, age at onset and diagnosis, presence or absence of systemic symptoms, and outcomes after treatment. It is unknown what the risk is of these patients developing future systemic lupus erythematosus. We also discuss the relevance of subcutaneous panniculitis-like T-cell lymphoma, because the clinical and pathologic pictures are similar in presentation.
Assuntos
Paniculite de Lúpus Eritematoso/diagnóstico , Paniculite de Lúpus Eritematoso/tratamento farmacológico , Adolescente , Biópsia , Pré-Escolar , Fármacos Dermatológicos/uso terapêutico , Quimioterapia Combinada , Feminino , Humanos , Hidroxicloroquina/uso terapêutico , Paniculite de Lúpus Eritematoso/patologia , Prednisolona/uso terapêutico , Resultado do TratamentoRESUMO
Granuloma annulare (GA) is a reactive process in the dermis, related to degeneration of collagen. It may occur as an idiopathic phenomenon or in conjunction with a myriad of systemic conditions, including infectious disease. We report an interesting case of GA precipitated by pulmonary coccidioidomycosis.
Assuntos
Coccidioidomicose/diagnóstico , Granuloma Anular/diagnóstico , Pneumopatias Fúngicas/diagnóstico , Antifúngicos/uso terapêutico , Coccidioidomicose/diagnóstico por imagem , Coccidioidomicose/tratamento farmacológico , Coccidioidomicose/imunologia , Coccidioidomicose/patologia , Feminino , Fluconazol/uso terapêutico , Granuloma Anular/tratamento farmacológico , Granuloma Anular/imunologia , Granuloma Anular/patologia , Humanos , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Imunoglobulina M/sangue , Imunoglobulina M/imunologia , Pneumopatias Fúngicas/diagnóstico por imagem , Pneumopatias Fúngicas/tratamento farmacológico , Pneumopatias Fúngicas/imunologia , Pessoa de Meia-Idade , Radiografia , Resultado do TratamentoRESUMO
INTRODUCTION: Traction alopecia is hair loss caused by prolonged or repetitive tension on the hair. Diagnostic challenges are encountered when the clinical suspicion is not high and when a history of traction is remote or not obtained. We have made the observation that the presence of retained hairs along the frontal and/or temporal rim, which we termed the "fringe sign," is a finding seen in both early and late traction alopecia, and may be a useful clinical marker of the condition. METHODS: This was a retrospective single-center review to determine the frequency of the fringe sign in patients with traction alopecia. RESULTS: Over a 3.5-year period the diagnosis of traction alopecia was made in 41 women. Twelve of the 41 patients were Hispanic (29%). Thirty-five (85%) of all women and 100 percent of women who had traction involving the marginal hairline had the fringe sign. Fourteen biopsies (58%) were available for review. Histopathologic findings included retained sebaceous glands (100%), an increase in vellus-sized hairs (50%), a decrease in terminal hairs (100%), fibrotic fibrous tracts (100%), and sparse lymphocytic inflammation (57%). CONCLUSIONS: The fringe sign is a sensitive and specific clinical feature of traction alopecia when it involves the marginal hairline.
Assuntos
Alopecia/diagnóstico , Cabelo/patologia , Estresse Mecânico , Adolescente , Adulto , Negro ou Afro-Americano , Idoso , Alopecia/etiologia , Alopecia/patologia , Indústria da Beleza , Biópsia , Diagnóstico Diferencial , Feminino , Hábitos , Hispânico ou Latino , Humanos , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Adulto JovemRESUMO
Immune-mediated antitumor responses occur in patients with metastatic melanoma (MM), and therapies designed to augment such responses are clinically beneficial. Despite the immunogenicity of melanoma, immunomodulatory therapies fail in the majority of patients with MM. An inability of DCs to sufficiently activate effector cells may, in part, underlie this failure of the antitumor response seen in most patients. In this work, we show that mutation of N-RAS or B-RAF, signature genetic lesions present in most MMs, potently induced the expression of cell-surface CD200, a repressor of DC function. Employing 2 independent, genome-wide microarray analyses, we identified CD200 as a highly dynamic, downstream target of RAS/RAF/MEK/ERK activation in melanoma. CD200 protein was similarly overexpressed in human melanoma cell lines and primary tumors. CD200 mRNA expression correlated with progression and was higher in melanoma than in other solid tumors or acute leukemia. Melanoma cell lines expressing endogenous CD200 repressed primary T cell activation by DCs, while knockdown of CD200 by shRNA abrogated this immunosuppressive effect. These data indicate that in addition to its effects on growth, survival, and motility, ERK activation in MM attenuates a host antitumor immune response, implicating CD200 and its interaction with the CD200 receptor as a potential therapeutic target for MM.
Assuntos
Antígenos CD/imunologia , MAP Quinases Reguladas por Sinal Extracelular/imunologia , Regulação Neoplásica da Expressão Gênica/imunologia , Melanoma/imunologia , Doença Aguda , Antígenos CD/genética , Antígenos de Superfície/genética , Antígenos de Superfície/imunologia , Movimento Celular/genética , Movimento Celular/imunologia , Sobrevivência Celular/genética , Sobrevivência Celular/imunologia , Células Dendríticas/imunologia , Células Dendríticas/patologia , MAP Quinases Reguladas por Sinal Extracelular/genética , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Leucemia/genética , Leucemia/imunologia , Leucemia/patologia , Ativação Linfocitária/genética , Ativação Linfocitária/imunologia , Melanoma/genética , Melanoma/patologia , Melanoma/terapia , Mutação , Metástase Neoplásica , Receptores de Orexina , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/imunologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas p21(ras)/imunologia , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/imunologia , Linfócitos T/imunologia , Linfócitos T/patologiaRESUMO
BACKGROUND: Accurate clinicopathologic correlation can be crucial to arriving at the correct microscopic diagnosis. OBJECTIVE: We reviewed the clinical information provided on the dermatopathology requisition forms for melanocytic lesions submitted by community dermatologists. METHODS: The clinical information provided and the microscopic diagnoses rendered were recorded in a retrospective, unblinded fashion for 100 consecutive melanocytic lesions submitted as wet tissue to our dermatopathology department. RESULTS: Biopsy specimens were received from 60 community dermatologists and 5 nurse practitioners/physician assistants. Clinical morphology (ie, papule) was provided in 33% of cases. With respect to the ABCDE criteria, 55% of cases had none, 12% had one criterion, 21% had two criteria, 10% had 3 criteria, 2% had 4 criteria, and none had all 5 criteria. No forms stated whether the biopsy specimen was a partial or complete sampling of the lesion. Asymmetry was provided 4% of the time, border irregularity 8%, color 39%, diameter 22%, and evolution 10%. A family or personal history of melanoma was provided in 8% of cases. No requisition forms mentioned the "ugly duckling" sign. Dermatoscopy information and a clinical photograph were provided once each. In 19 cases, the only information on the requisition form was one of the phrases: "r/o atypia," "r/o atypical nevus," "r/o Clark's," or "r/o dysplastic nevus." In 10 cases, the only information was "r/o nevus." LIMITATIONS: Only 100 consecutive melanocytic lesions were studied in a retrospective, unblinded fashion. CONCLUSION: Important clinical information regarding pigmented lesions is often not provided on the requisition form. Potential reasons for this deficit and suggestions for improvement are discussed.
Assuntos
Dermatologia , Prontuários Médicos/normas , Melanoma/patologia , Encaminhamento e Consulta/normas , Dermatopatias/patologia , Neoplasias Cutâneas/patologia , Biópsia , Humanos , Patologia Clínica , Pele/patologia , Dermatopatias/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
Dermal mucinoses are a heterogeneous group of disorders characterized by abnormal deposition of dermal mucin, an amorphous substance composed of hyaluronic acid and sulfated glycosaminoglycans. We describe two cases of dermal mucinosis in the setting of chronic venous insufficiency. Both patients presented with painful, edematous lower extremity plaques. Biopsies of all lesions showed striking dermal mucin deposition, a slight increase in small blood vessel density, slightly thickened vessel walls and no inflammation. Neither patient showed laboratory or clinical findings consistent with a secondary mucinosis such as thyroid dysfunction, lupus erythematosus, dermatomyositis, scleroderma, granuloma annulare, graft-vs.-host disease or mucin deposition post-ultraviolet or photochemotherapy treatment. Both patients were diagnosed with localized cutaneous mucinosis secondary to venous insufficiency. The clinicopathological features of this entity are described, and a pathogenic mechanism is proposed.
Assuntos
Perna (Membro)/patologia , Mucinoses/patologia , Pele/patologia , Coxa da Perna/patologia , Insuficiência Venosa/patologia , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Mucinoses/complicações , Insuficiência Venosa/complicaçõesRESUMO
BACKGROUND: Cellular neurothekeoma is a benign lesion most commonly found on the face and upper extremities in the first two decades of life. METHODS: Retrospective clinicopathologic review of 12 examples of cellular neurothekeoma typified by prominent stromal sclerosis, a distinctive variant that we refer to as desmoplastic cellular neurothekeoma. RESULTS: The mean age was 30 years (range, 3-55 years, 3 males, 9 females). The site was the head and neck in 3 cases, upper extremity in 4, lower extremity in 2, and trunk/abdomen in 3. All cases showed fascicles of slightly spindled and polygonal cells arrayed haphazardly in a prominent sclerotic background in the dermis and superficial subcutis. The cells displayed pale cytoplasm with indistinct membranes and vesicular nuclei with a single nucleolus. Lesional cells expressed NKI/C3, laminin, CD68, and CD10 and lacked expression of S-100 protein, EMA, and CD34. Clinical follow up was available on 10 cases with a mean duration of 24 months (range, 11-42 months) with no local recurrences or metastases. CONCLUSIONS: The immunohistochemical staining pattern, clinical findings, and benign nature are similar to "conventional" cellular neurothekeomas. The differential diagnosis includes desmoplastic melanocytic lesions, desmoplastic spindle cell carcinoma, dermatofibroma, "immature" scar, plexiform fibrohistiocytic tumor, perineurioma, and piloleiomyoma.
Assuntos
Neurotecoma/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neurotecoma/metabolismo , Neoplasias Cutâneas/metabolismo , Adulto JovemRESUMO
Angiokeratomas are benign proliferations of dilated thin-walled blood vessels in the upper dermis with overlying epidermal hyperkeratosis. There are several clinical variants of angiokeratomas: 1. Fordyce: smooth reddish-purple papules on scrotum or vulva; 2. Mibelli: hyperkeratotic papules on fingers or toes, solitary, multiple, or circumscriptum (grouped papules usually on an extremity); 4. angiokeratoma corporis diffusum, widespread papules that are a manifestation of one of several inherited lysozomal storage diseases. Herein, we report a rare case of multiple angiokeratomas of Fordyce on the corona of the glans penis.
Assuntos
Angioceratoma/patologia , Neoplasias Penianas/patologia , Neoplasias Cutâneas/patologia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Early diagnosis improves melanoma survival, yet the histopathological diagnosis of cutaneous primary melanoma can be challenging, even for expert dermatopathologists. Analysis of epigenetic alterations, such as DNA methylation, that occur in melanoma can aid in its early diagnosis. Using a genome-wide methylation screening, we assessed CpG methylation in a diverse set of 89 primary invasive melanomas, 73 nevi, and 41 melanocytic proliferations of uncertain malignant potential, classified based on interobserver review by dermatopathologists. Melanomas and nevi were split into training and validation sets. Predictive modeling in the training set using ElasticNet identified a 40-CpG classifier distinguishing 60 melanomas from 48 nevi. High diagnostic accuracy (area under the receiver operator characteristic curve = 0.996, sensitivity = 96.6%, and specificity = 100.0%) was independently confirmed in the validation set (29 melanomas, 25 nevi) and other published sample sets. The 40-CpG melanoma classifier included homeobox transcription factors and genes with roles in stem cell pluripotency or the nervous system. Application of the 40-CpG melanoma classifier to the diagnostically uncertain samples assigned melanoma or nevus status, potentially offering a diagnostic tool to assist dermatopathologists. In summary, the robust, accurate 40-CpG melanoma classifier offers a promising assay for improving primary melanoma diagnosis.
Assuntos
Biomarcadores Tumorais/genética , Metilação de DNA , Epigenômica/métodos , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Algoritmos , Ilhas de CpG/genética , Diagnóstico Diferencial , Epigênese Genética , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Melanoma/genética , Melanoma/patologia , Pessoa de Meia-Idade , Nevo/diagnóstico , Nevo/genética , Nevo/patologia , Curva ROC , Estudos Retrospectivos , Pele/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologiaRESUMO
We describe a female infant with an acrodermatitis enteropathica-like eruption as the presenting sign of rapidly fatal cystic fibrosis. The patient had growth retardation, developed an erythematous eruption unresponsive to oral zinc, and finally a generalized erosive dermatitis with associated edema, anemia and hypoproteinemia.