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Lymphangioma circumscriptum is a rare benign disorder of unknown etiology affecting lymph vessels in the deep dermal and subcutaneous layers. The commonest sites of presentation are the axilla, shoulders, groins, tongue and oral cavity. Lymphangioma circumscriptum of the vulva is very rare can be either congenital or secondary to lymphadenectomy or pelvic radiation in patients with genital cancer, genital tuberculosis, Crohn's disease, cellulitis, morbid obesity and immobilization. We report the case of congenital lymphangioma circumscriptum of the vulva in an adolescent with congenital lymphedema of the leg.
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Linfangioma/congênito , Neoplasias Vulvares/congênito , Adolescente , Feminino , HumanosRESUMO
BACKGROUND: Lynch syndrome (LS) is an inherited disorder associated with genetic predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for the necessity of assessment for LS in view of the established survival benefits for identified patients and affected family members. The debate regarding the best screening policy is far from being concluded. OBJECTIVES: The aim of this study was to evaluate a realistic protocol for identifying LS families by assessing young women with a diagnosis of endometrial cancer (EC). METHODS: Consecutive cases of women with a diagnosis of endometrioid EC younger than 50 years were recruited. A complete 3-generation pedigree was drawn and assessed against the Amsterdam II criteria. Tumor DNA microsatellite instability and immunohistochemistry testing for the expression of mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2 was offered to all patients. MLH1 gene promoter methylation and EPCAM gene deletion testing were also offered where appropriate. Genetic counseling and MMR germline mutation tests were offered in women with abnormal results. RESULTS: Fifty-eight women were invited, and 38 (65.5%), consented for LS assessment (95% confidence interval CI 53%-78%). A complete data set was obtained in 35 women (60.3%). Lynch syndrome according to clinical and/or molecular characteristics was diagnosed in 8 cases or 22.8% (95% CI 15%-48%). There was no significant difference at the age of women with a diagnosis of LS (median, 45 years; range, 37-48 years) compared with that of the non-LS ones (median, 45 years; range, 31-49 years). Three pathogenic MMR mutations were identified in the 8 cases with a diagnosis of LS, 37.5% (95% CI 5%-72%), estimating an 8.5% (95% CI 1%-19%) mutation prevalence in the study population. CONCLUSIONS: All women with newly diagnosed EC should be assessed for inherited predisposition. Regional policies for assessment should be developed in accordance with available resources. Gynecologists are required to upgrade their skills in order to identify, assess, and counsel patients with suspected or established LS and appropriately refer to clinical genetics.
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Carcinoma Endometrioide/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias do Endométrio/diagnóstico , Adulto , Índice de Massa Corporal , Carcinoma Endometrioide/epidemiologia , Carcinoma Endometrioide/genética , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias do Endométrio/epidemiologia , Neoplasias do Endométrio/genética , Feminino , Humanos , Corpo Clínico Hospitalar , Pessoa de Meia-Idade , Reino Unido/epidemiologiaRESUMO
AIMS: The aim was to systematically review the evidence on the clinical usefulness of thiopurine metabolite and white blood count (WBC) monitoring in the assessment of clinical outcomes in children with inflammatory bowel disease (IBD). METHODS: Medline, Embase, Cochrane Central Register of controlled trials and http://www.clinicaltrials.gov were screened in adherence to the PRISMA statement by two independent reviewers for identification of eligible studies. Eligible studies were randomized controlled trials (RCTs), cohort studies and large case series of children with inflammatory bowel disease (IBD) (<18 years) who underwent monitoring of thiopurine metabolites and/or WBC. RESULTS: Fifteen papers were identified (n = 1026). None of the eligible studies were RCTs. High 6-thioguanine nucleotide (6TGN) concentrations were not consistently associated with leucopenia. Leucopenia was not associated with achievement of clinical remission. A positive but not consistent correlation between 6TGN and clinical remission was reported. Haematological toxicity could not be reliably assessed with 6TGN measurements only. A number of studies supported the use of high 6-methylmercaptopurine ribonucleotides (6MMPR) as an indicator of hepatotoxicity. Low thiopurine metabolite concentration may be indicative of non-compliance. CONCLUSION: Thiopurine metabolite testing does not safely predict clinical outcome, but may facilitate toxicity surveillance and treatment optimization in poor responders. Current evidence favours the combination of thiopurine metabolite/WBC monitoring and clinic follow-up for prompt identification of haematologic/hepatic toxicity safe dose adjustment, and treatment modification in cases of suboptimal clinical outcome or non-compliance. Well designed RCTs for the identification of robust surrogate markers of thiopurine efficacy and toxicity are required.
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Imunossupressores/uso terapêutico , Doenças Inflamatórias Intestinais/tratamento farmacológico , Purinas/uso terapêutico , Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Criança , Monitoramento de Medicamentos/métodos , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/metabolismo , Contagem de Leucócitos , Adesão à Medicação , Purinas/efeitos adversos , Purinas/metabolismo , Resultado do TratamentoRESUMO
George Papanikolaou is famously quoted as saying "the first observation of cancer cells in the smear of the uterine cervix gave me one of the greatest thrills I ever experienced during my scientific career" [...].
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Background: Here, we conducted a scoping review to (i) establish which machine learning (ML) methods have been applied to hematological malignancy imaging; (ii) establish how ML is being applied to hematological cancer radiology; and (iii) identify addressable research gaps. Methods: The review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Extension for Scoping Reviews guidelines. The inclusion criteria were (i) pediatric and adult patients with suspected or confirmed hematological malignancy undergoing imaging (population); (ii) any study using ML techniques to derive models using radiological images to apply to the clinical management of these patients (concept); and (iii) original research articles conducted in any setting globally (context). Quality Assessment of Diagnostic Accuracy Studies 2 criteria were used to assess diagnostic and segmentation studies, while the Newcastle-Ottawa scale was used to assess the quality of observational studies. Results: Of 53 eligible studies, 33 applied diverse ML techniques to diagnose hematological malignancies or to differentiate them from other diseases, especially discriminating gliomas from primary central nervous system lymphomas (n=18); 11 applied ML to segmentation tasks, while 9 applied ML to prognostication or predicting therapeutic responses, especially for diffuse large B-cell lymphoma. All studies reported discrimination statistics, but no study calculated calibration statistics. Every diagnostic/segmentation study had a high risk of bias due to their case-control design; many studies failed to provide adequate details of the reference standard; and only a few studies used independent validation. Conclusion: To deliver validated ML-based models to radiologists managing hematological malignancies, future studies should (i) adhere to standardized, high-quality reporting guidelines such as the Checklist for Artificial Intelligence in Medical Imaging; (ii) validate models in independent cohorts; (ii) standardize volume segmentation methods for segmentation tasks; (iv) establish comprehensive prospective studies that include different tumor grades, comparisons with radiologists, optimal imaging modalities, sequences, and planes; (v) include side-by-side comparisons of different methods; and (vi) include low- and middle-income countries in multicentric studies to enhance generalizability and reduce inequity.
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Blood plasma and serum Raman spectroscopy for ovarian cancer diagnosis has been applied in pilot studies, with promising results. Herein, a comparative analysis of these biofluids, with a novel assessment of urine, was conducted by Raman spectroscopy application in a large patient cohort. Spectra were obtained through samples measurements from 116 ovarian cancer patients and 307 controls. Principal component analysis identified significant spectral differences between cancers without previous treatment (n = 71) and following neo-adjuvant chemotherapy (NACT), (n = 45). Application of five classification algorithms achieved up to 73% sensitivity for plasma, high specificities and accuracies for both blood biofluids, and lower performance for urine. A drop in sensitivities for the NACT group in plasma and serum, with an opposite trend in urine, suggest that Raman spectroscopy could identify chemotherapy-related changes. This study confirms that biofluids' Raman spectroscopy can contribute in ovarian cancer's diagnostic work-up and demonstrates its potential in monitoring treatment response.
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Neoplasias Ovarianas , Análise Espectral Raman , Feminino , Humanos , Biópsia Líquida , Neoplasias Ovarianas/tratamento farmacológico , Análise de Componente PrincipalRESUMO
PURPOSE: We aimed to evaluate the combination of the modified Response Evaluation Criteria In Solid Tumors (mRECIST) and contrast-enhanced ultrasonography (CEUS) as a tool for the assessment of hepatocellular carcinoma treated with transarterial chemoembolization. MATERIALS AND METHODS: Forty-seven hepatocellular carcinoma patients (80 target tumors suitable for mRECIST measurements) were studied. They were treated with scheduled transarterial chemoembolization with doxorubicin-eluting microspheres every 5-7 weeks. Imaging follow-up (performed one month after each transarterial chemoembolization) included a standard, contrast-enhanced modality (computed tomography [CT] in 12 patients or magnetic resonance imaging [MRI] in 35 patients) and CEUS. The study focused on response evaluation after the third transarterial chemoembolization. CEUS required a bolus injection of an echo-enhancer and imaging with a dedicated, low mechanical index technique. The longest diameters of the enhancing target tumors were measured on the CEUS or CT/MRI, and mRECIST criteria were applied. Radiologic responses were correlated with overall survival and time to progression. RESULTS: The measurements of longest diameters of the enhancing target tumors were easily performed in all patients. According to mRECIST-CEUS and mRECIST-CT/MRI, complete response was recorded in five and six patients, partial response in 22 and 21 patients, stable disease in 16 and 14 patients, and progressive disease in four and six patients, respectively. There was a high degree of concordance between CEUS and CT/MRI (kappa coefficient=0.84, P < 0.001). Responders (complete+partial response) according to mRECIST-CEUS had a significantly longer mean overall survival and time to progression compared to nonresponders (37.1 vs. 11.0 months, P < 0.001 and 24.6 vs. 10.9 months, P = 0.007, respectively). CONCLUSION: The mRECIST-CEUS combination is feasible and has prognostic value in the assessment of hepatocellular carcinoma following transarterial chemoembolization.
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Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/terapia , Quimioembolização Terapêutica , Meios de Contraste , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/terapia , Critérios de Avaliação de Resposta em Tumores Sólidos , Idoso , Idoso de 80 Anos ou mais , Artérias , Quimioembolização Terapêutica/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ultrassonografia/métodosRESUMO
Primary lymphoma of the uterine corpus and cervix is rare. We present a case of primary non-Hodgkin follicular lymphoma isolated to uterine corpus and parametria with focal spread to ovaries and fallopian tubes, incidentally found on the background of endometrial malignancy. A summary of the published cases focusing on the presentation and prognosis as well as a review of current management are discussed. The rising incidence of extra-nodal lymphoma and recent changes in classification and therapeutic approach, require clinical vigilance. In the absence of prospective studies assessing the value of the available therapeutic options, data from retrospective series and scattered case reports are presented in this review.
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Mesonephric adenocarcinoma is a rare type of cervical cancer that derives from mesonephric remnants in the uterine cervix. To the best of our knowledge, this is the 34th case of mesonephric adenocarcinoma in adult women documented in the literature. We present an asymptomatic 64-year-old postmenopausal woman presenting with a suspicious-looking cervix as an incidental finding and diagnosed with a stage IB mesonephric adenocarcinoma of the cervix. This case was managed with radical hysterectomy, bilateral salpingoophorectomy and pelvic lymphadenectomy. The rarity of such cases imposes challenges on the management in terms of diagnosis, prognosis and therapeutic options.