RESUMO
Pleomorphic fibroma is a rare benign cutaneous neoplasm characterized by spindle-shaped cells and multinucleated giant cells scattered throughout collagenous stroma. These morphologic features can lead to diagnostic confusion, including atypical lipomatous tumor as one consideration. In contrast to atypical lipomatous tumor, previous studies have found pleomorphic fibroma to be negative for MDM2 immunohistochemical staining and MDM2 gene amplification. Here, we present a case of pleomorphic fibroma of skin with nuclear MDM2 immunoreactivity in the absence of MDM2 gene amplification, underscoring the superiority of fluorescence in situ hybridization as a diagnostic test in this differential diagnosis. The RB1 locus is also explored for differential diagnosis with pleomorphic/spindle cell lipoma and related entities.
Assuntos
Biomarcadores Tumorais/análise , Histiocitoma Fibroso Benigno/diagnóstico , Proteínas Proto-Oncogênicas c-mdm2/biossíntese , Neoplasias Cutâneas/diagnóstico , Feminino , Histiocitoma Fibroso Benigno/patologia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lipoma/diagnóstico , Proteínas Proto-Oncogênicas c-mdm2/análise , Neoplasias Cutâneas/patologia , Adulto JovemRESUMO
BACKGROUND: Primary mucinous carcinoma of the skin (PMCS) is a rare adnexal eccrine sweat gland neoplasm, often mistaken for metastasis from extracutaneous sites or misdiagnosed. Primary mucinous carcinoma of the skin is a slow-growing tumor with a high recurrence rate after conventional excision. OBJECTIVE: To describe clinicopathologic features, rate of recurrence, and metastasis and to review relevant literature. MATERIALS AND METHODS: The authors identified patients with PMCS treated from January 1992 through December 2012 at Mayo Clinic. The authors retrospectively reviewed medical records and histology slides. Relevant publications were identified through Ovid MEDLINE and PubMed. RESULTS: Six patients with PMCS were identified (1 male). The average age at diagnosis was 63 years. Tumor size ranged from 0.5 to 2.0 cm, and all were confined within the dermis. No evidence of metastatic mucinous adenocarcinoma was documented at the time of diagnosis. Five patients underwent Mohs micrographic surgery, and 1 was treated with wide local excision. There were no episodes of recurrence or metastases after a median follow-up of 20 months (range, 0.5-207 months). CONCLUSION: Mohs micrographic surgery may offer reduced recurrence rates and better outcomes in PMCS. Further studies with longer follow-up and bigger cohorts of patients with PMCS are warranted.
Assuntos
Adenocarcinoma Mucinoso/patologia , Neoplasias Cutâneas/patologia , Adenocarcinoma Mucinoso/cirurgia , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Neoplasias Faciais/patologia , Neoplasias Faciais/cirurgia , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs , Recidiva Local de Neoplasia/prevenção & controle , Estudos Retrospectivos , Couro Cabeludo/patologia , Couro Cabeludo/cirurgia , Neoplasias Cutâneas/cirurgia , Parede Torácica/patologia , Parede Torácica/cirurgiaRESUMO
CONTEXT.: Intraoperative diagnosis by frozen section is a mainstay of surgical pathology practice, providing immediate feedback to the surgical team. Despite good accuracy with modern methods, access to intraoperative surgical pathology with an appropriate turnaround time (TAT) has been a limiting factor for small or remote surgical centers, with negative impacts on cost and patient care. Telepathology offers immediate expert anatomic pathology consultation to sites without an in-house or subspecialized pathologist. OBJECTIVE.: To assess the utility of live telepathology in frozen section practice. DESIGN.: Frozen section diagnoses by telemicroscopy from 2 tertiary care centers with a combined 3 satellite hospitals were queried for anatomic site, TAT per block, pathologist, and concordance with paraffin diagnosis. TAT and concordance were compared to glass diagnoses in the same period. RESULTS.: For 748 intraoperative diagnoses by telemicroscopy, 694 had TATs with a mean of 18 minutes 56 seconds ± 8 minutes 45 seconds, which was slower than on glass (14 minutes 25 seconds ± 7 minutes 8 seconds, P < .001). Twenty-two (2.89% of available) were discordant, which was not significantly different from the on-glass rate (P = .44) or categorical distribution (P = .31). Two cases (0.27%) had technical failures. CONCLUSIONS.: Although in-person diagnoses were statistically faster, the great majority of telemicroscopic diagnoses were returned in less than 20 minutes. This remained true through numerous pathologists, pathology assistants and/or technicians, different hospitals, and during a combined 6 years. The concentration of discordant diagnoses among relatively few pathologists suggests individual comfort with telepathology and/or frozen section diagnosis. In rare cases, technical issues prevented telemicroscopic diagnosis. Overall, this justifies continued use and expansion of telemicroscopic services in primary intraoperative diagnoses.
Assuntos
Patologia Cirúrgica , Telepatologia , Humanos , Secções Congeladas/métodos , Telepatologia/métodos , Patologia Cirúrgica/métodos , Centros de Atenção Terciária , Tomografia Computadorizada por Raios XRESUMO
A commercially available diagnostic gene expression profiling (GEP) assay (MyPath™) reportedly has high sensitivity and specificity in distinguishing nevi from melanoma based on manufacturer-conducted studies. However, data regarding the performance of this GEP assay in routine clinical practice are lacking. The purpose of this study was to better assess the real-world performance of GEP in a large academic practice. Retrospective review of GEP scores were compared with final histomorphologic interpretation on a wide spectrum of melanocytic lesions demonstrating some degree of atypia. In a sample of 369 lesions, the sensitivity (76.1%) and specificity (83.9%) of the GEP test as compared with final dermatopathologist-rendered diagnosis in our dataset was appreciably lower than that reported in the prior manufacturer-conducted validation studies. Limitations of this study were that it was a single-center study, its retrospective nature, nonblinded nature of GEP test result, concordance of only two pathologists, and limited follow-up time.The sensitivity and specificity of a commercially available GEP diagnostic assay for melanoma may be lower in routine clinical practice, where melanocytic lesions typically exhibit some degree of histomorphologic atypia. Reported cost effectiveness of GEP testing is questionable if all ambiguous lesions that undergo such testing are re-excised in clinical practice.
Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Estudos Retrospectivos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/metabolismo , Perfilação da Expressão Gênica , Expressão GênicaAssuntos
Pólipos/diagnóstico , Pólipos/patologia , Neoplasias Retais/diagnóstico , Neoplasias Retais/patologia , Schistosoma mansoni/isolamento & purificação , Esquistossomose mansoni/diagnóstico , Esquistossomose mansoni/patologia , Adulto , Animais , Anti-Helmínticos/administração & dosagem , Antibacterianos/administração & dosagem , Biópsia , Feminino , Infecções por Helicobacter/complicações , Infecções por Helicobacter/tratamento farmacológico , Histocitoquímica , Humanos , Pólipos/cirurgia , Praziquantel/administração & dosagem , Neoplasias Retais/cirurgia , Esquistossomose mansoni/tratamento farmacológico , Esquistossomose mansoni/cirurgia , Resultado do TratamentoAssuntos
Pólipos/diagnóstico , Pólipos/patologia , Neoplasias Retais/diagnóstico , Neoplasias Retais/patologia , Schistosoma mansoni/isolamento & purificação , Esquistossomose mansoni/diagnóstico , Esquistossomose mansoni/patologia , Adulto , Animais , Anti-Helmínticos/administração & dosagem , Antibacterianos/administração & dosagem , Biópsia , Feminino , Infecções por Helicobacter/complicações , Infecções por Helicobacter/tratamento farmacológico , Histocitoquímica , Humanos , Pólipos/cirurgia , Praziquantel/administração & dosagem , Neoplasias Retais/cirurgia , Esquistossomose mansoni/tratamento farmacológico , Esquistossomose mansoni/cirurgia , Resultado do TratamentoRESUMO
Infection due to Streptococcus agalactiae or Group B streptococcus may be acquired during parturition or gestation. Discordant twin gestational Group B streptococcus infections are rarely reported. We describe two cases of fatal discordant gestational Group B streptococcus infection in both a monochorionic/diamniotic pregnancy and in a dichorionic/diamniotic pregnancy. In both instances, cultures, examination of the placentae, and autopsy findings demonstrated infection by Group B streptococcus in only the presenting fetus. Despite the ubiquity of this organism, this is the first documented case of discordant gestational Group B streptococcus infection in monochorionic/diamniotic twins and only the third case documented in dichorionic/diamniotic twins.
Assuntos
Complicações Infecciosas na Gravidez , Infecções Estreptocócicas/complicações , Gêmeos , Adulto , Córion , Feminino , Humanos , Gravidez , Natimorto , Streptococcus agalactiaeRESUMO
BACKGROUND: Nonsteroidal anti-inflammatory drugs (NSAIDs) have been reported to induce liver injury. Patterns of the injury usually range from mild elevations of liver enzymes to sometimes severe fulminant hepatic failure. Likewise, naproxen is a propionic acid derivative NSAID that was introduced in 1980 and has been available as an over-the-counter medication since 1994, but has rarely been reported to cause liver injury. METHODS: We treated a 30-year-old woman with jaundice and intractable pruritus that developed shortly after taking naproxen. We reviewed the medical history and liver histopathology of the patient as well as all previously published case reports of naproxen-associated liver toxicity in the English language literature. RESULTS: The liver biochemical profile of the patient revealed a mixed cholestasis and hepatitis pattern. Consecutive liver biopsies demonstrated focal lobular inflammation, hepatocyte drop-out, and a progressive loss of the small interlobular bile ducts (ductopenia). The biopsy performed two years after onset of the disease showed partial recovery of a small number of bile ducts; however, 10 years passed before the biochemical profile returned to near normal. CONCLUSIONS: Naproxen-associated liver toxicity remains a rare entity, but should be considered in any patient presenting with cholestasis shortly after its use. Liver injury is most commonly seen in a mixed pattern characterized by cholestasis and hepatitis. The resulting liver damage may take years to resolve.
Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Naproxeno/efeitos adversos , Adulto , Biópsia , Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Feminino , Humanos , Icterícia/induzido quimicamente , Fígado/efeitos dos fármacos , Fígado/patologia , Prurido/induzido quimicamente , Fatores de TempoAssuntos
Procedimentos Cirúrgicos Dermatológicos/métodos , Sarda Melanótica de Hutchinson/cirurgia , Neoplasias Cutâneas/cirurgia , Manejo de Espécimes/métodos , Fixação de Tecidos/métodos , Humanos , Sarda Melanótica de Hutchinson/patologia , Neoplasia Residual , Neoplasias Cutâneas/patologia , Coloração e RotulagemRESUMO
Erythrodermic psoriasis (EP) is the most serious type of psoriasis with high morbidity and mortality. First-line recommended therapies for EP, cyclosporine and infliximab have significant adverse effects. Cyclosporine increases the risk of hypertension, leucopenia, infections and renal failure. Infliximab increases the risk of reactivation of tuberculosis, hepatitis B and histoplasmosis, and increases risk for hepatitis, autoantibody formation, congestive heart failure, demyelinating disorders, pancytopenia, lymphoma and skin cancer. An effective drug with a much safer side effect profile will be of significant benefit in EP. The phosphodiesterase 4 inhibitor apremilast is U.S Food and Drug Administration (FDA) approved for plaque psoriasis and psoriatic arthritis. Adverse effects of apremilast reported are headache, nausea, diarrhoea, upper respiratory tract infection, potential for depression and weight loss. We report complete and long-standing resolution of EP with first-line apremilast monotherapy. Apremilast may be an effective option with comparatively minor side effects for EP.
Assuntos
Anti-Inflamatórios não Esteroides/administração & dosagem , Psoríase/tratamento farmacológico , Talidomida/análogos & derivados , Dermatite Esfoliativa/tratamento farmacológico , Dermatite Esfoliativa/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prurido/tratamento farmacológico , Prurido/etiologia , Exacerbação dos Sintomas , Talidomida/administração & dosagem , Resultado do TratamentoRESUMO
Dermatofibrosarcoma protuberans (DFSP) is categorized as a fibrohistiocytic tumor of intermediate malignant potential. It has significant risk for local recurrence and, less commonly, local or distant metastasis. Initially, these tumors typically arise as a firm plaque on the skin that slowly progresses to a nodular and protuberant dermal lesion. DFSP can also exhibit ulceration, hemorrhage, and accelerated growth, but autoamputation has not been described in the English literature. In this article, we report a case of an asymptomatic classical DFSP on the upper back in which the protuberant portion spontaneously autoamputated. In this case, the residual lesion was treated with Mohs micrographic surgery. The presentation, features, and implications of this interesting mode of presentation are discussed.
Assuntos
Dermatofibrossarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Pele/patologia , Adulto , Dorso , Dermatofibrossarcoma/patologia , Dermatofibrossarcoma/cirurgia , Feminino , Humanos , Cirurgia de Mohs , Neoplasia Residual , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaRESUMO
Pandoraea species are considered emerging pathogens in cystic fibrosis (CF) patients, but few data exist regarding outcomes of patients colonized with these organisms. We report a case of Pandoraea sputorum colonization in a CF patient under consideration for lung transplantation and review five cases of lung transplantation involving Pandoraea species.
Assuntos
Burkholderiaceae , Fibrose Cística/microbiologia , Escarro/microbiologia , Adulto , Burkholderiaceae/genética , Humanos , Transplante de Pulmão , Masculino , Dados de Sequência Molecular , RNA Ribossômico 16S/genéticaRESUMO
Desmoplastic melanoma (DM) is a rare fibrosing variant of melanoma that can be difficult to diagnose. One of the diagnostic challenges is its distinction from a melanocytic nevus with desmoplasia. Here we investigate the use of a 23-gene signature, which has previously been shown to distinguish benign from malignant melanocytic neoplasms. We assessed 50 cases with a differential diagnostic consideration of DM that underwent gene expression testing. Hematoxylin and eosin-stained sections were reviewed, and the final cohort included 20 DMs, 5 nondesmoplastic melanomas, and 27 desmoplastic melanocytic nevi. Of the 20 DMs, the gene expression score was positive ("likely malignant") in 15 tumors, indeterminate in 1, and negative ("likely benign") in 4. None of the desmoplastic melanocytic nevi were positive. The gene expression score was negative in 24 of the melanocytic nevi and indeterminate in the remaining 3. Nine DMs were also analyzed cytogenetically by single-nucleotide polymorphism (SNP) array. The SNP array revealed chromosomal copy number aberrations consistent with melanoma in 7 DMs and failed to show any aberrations in 2. The results of SNP array analysis and gene expression testing were discordant in 4 cases. Our results document limitations in the sensitivity of both the gene expression signature and SNP array for the detection of DM. Nonetheless, our findings suggest a potential role of the gene expression signature as ancillary supportive evidence for the distinction of DM from desmoplastic nevus because positive scores were only seen in melanomas.
Assuntos
Biomarcadores Tumorais/genética , Perfilação da Expressão Gênica/métodos , Melanoma/genética , Nevo Pigmentado/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Cutâneas/genética , Transcriptoma , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Diagnóstico Diferencial , Feminino , Dosagem de Genes , Humanos , Masculino , Melanoma/patologia , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Polimorfismo de Nucleotídeo Único , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Neoplasias Cutâneas/patologia , Adulto JovemRESUMO
Peritoneal dialysis-associated peritonitis due to fungi of the class Zygomycetes occurs very rarely. A case of fungal continuous ambulatory peritoneal dialysis peritonitis due to Cunninghamella bertholletiae is reported in a 39-year-old Aboriginal woman with end-stage renal failure and diabetes mellitus. This isolate was found to be resistant in vitro to amphotericin B, 5-fluorocytosine, fluconazole, itraconazole, ketoconazole and voriconazole. However, this patient was successfully treated with voriconazole and removal of the Tenckhoff dialysis catheter. Zygomycoses are an emerging threat among immunocompromised patients, including those with chronic renal failure. Zygomycosis due to C. bertholletiae is frequently fatal and is often non-responsive to systemic antifungal therapy. This is believed to be the first reported case of C. bertholletiae causing peritonitis in humans and one of the minority of cases involving this organism with a successful outcome.
Assuntos
Cunninghamella/isolamento & purificação , Mucormicose/microbiologia , Diálise Peritoneal Ambulatorial Contínua/efeitos adversos , Peritonite/microbiologia , Adulto , Feminino , HumanosAssuntos
Líquen Escleroso e Atrófico , Biópsia/métodos , Vesícula/patologia , Carcinoma de Células Escamosas/diagnóstico , Fármacos Dermatológicos/uso terapêutico , Diagnóstico Diferencial , Feminino , Hemorragia/patologia , Humanos , Ceratose/patologia , Líquen Escleroso e Atrófico/diagnóstico , Líquen Escleroso e Atrófico/tratamento farmacológico , Líquen Escleroso e Atrófico/patologia , Líquen Escleroso e Atrófico/fisiopatologia , Pessoa de Meia-Idade , Pele/patologiaRESUMO
CONTEXT: Patients who undergo hematopoietic stem cell transplant are at an increased risk of developing iron overload. OBJECTIVES: To describe the effect of hepatic iron overload on hematopoietic stem cell transplant recipients and to validate the utility of histologic scoring system of iron granules in the liver. DESIGN: Records of 154 post allogeneic hematopoietic stem cell transplant patients were reviewed. Forty-nine patients underwent liver biopsy. Histologic hepatic iron overload was defined as a score of 2 or greater (scale, 0-4). RESULTS: Twenty-eight of 49 patients (57%) evaluated by liver biopsy had hepatic iron overload; 17 had moderate to severe hepatic iron overload (score, 3 or 4). In multivariate analysis, a significant correlation was discovered between hepatic iron overload and the number of transfusions (P < .001), posttransplant serum ferritin levels (P=.004), lactate dehydrogenase levels (P=.03), and the development of blood stream infections (P= .02). There was no correlation between hepatic iron overload and abnormal liver function test results. While 37 patients (76%) died after receiving a transplant, mortality was not influenced by hepatic iron overload but was significantly higher in older patients, in patients with lower serum albumin levels, higher serum bilirubin levels, and higher clinical grade of acute graft-versus-host disease (P=.04, P=.001, P=<.001, and P .004, respectively). CONCLUSIONS: Hepatic iron overload is commonly identified in hematopoietic stem cell transplant patients and can be accurately diagnosed by liver biopsy. In addition, hepatic iron overload has been identified in patients receiving as few as 25 units of packed red blood cells, with elevated posttransplant serum ferritin levels, and with blood stream infections.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/diagnóstico , Adulto , Biópsia , Feminino , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Sobrecarga de Ferro/epidemiologia , Estimativa de Kaplan-Meier , Fígado/patologia , Testes de Função Hepática , Masculino , Estudos Retrospectivos , Transplante HomólogoAssuntos
Antibacterianos/farmacologia , Clindamicina/farmacologia , Farmacorresistência Bacteriana Múltipla/efeitos dos fármacos , Hospitais Públicos , Staphylococcus aureus/efeitos dos fármacos , Resistência a Medicamentos , Humanos , Testes de Sensibilidade Microbiana , Northern Territory , Staphylococcus aureus/isolamento & purificaçãoRESUMO
The VersaTREK(®) microbial detection system offers 2 media formulations, an aerobic and an anaerobic bottle available in a 40-mL direct draw format and an 80-mL format. The 40-mL EZ Draw(®) bottle can be inoculated with a maximum volume of 5 mL, while the REDOX 80-mL bottle accommodates a 10-mL volume. The effect of volume of blood inoculum on time to positivity (TTP) has not been clearly established with these bottle types. This study utilized simulated blood cultures seeded with clinically relevant microorganisms in human blood to evaluate the impact of inoculum volume and organism load on TTP for the 2 bottle types. For 13/15 organisms, the EZ Draw bottle flagged positive earlier than the REDOX 80-mL bottles. The lower volume of blood inoculum did not negatively impact TTP using the EZ Draw blood culture bottles as compared to REDOX 80-mL bottles.