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CONTEXT.: Pleural effusions are common cytologic specimens that can be leveraged to make diagnoses of malignancy that drive appropriate patient management. However, the overlap in morphologic features of reactive mesothelial proliferations, mesotheliomas, and adenocarcinomas can create diagnostic pitfalls in the cytologic evaluation of pleural fluids. OBJECTIVE.: To review the morphologic spectrum of benign and malignant mesothelial proliferations in pleural effusions, as well as relevant clinicoradiologic contexts and ancillary tests. DATA SOURCES.: Existing scientific and clinical literature as of January 2023. CONCLUSIONS.: We can leverage the knowledge of several overlapping morphologic features, clinicoradiologic scenarios, and immunohistochemical studies to enhance the diagnostic accuracy of pleural effusion cytology to appropriately delineate cases of adenocarcinoma, reactive mesothelial proliferation, and mesothelioma. Earlier diagnosis through cytology, particularly in cases of mesothelioma, may positively impact patient treatment options and prognosis.
Assuntos
Adenocarcinoma , Mesotelioma Maligno , Mesotelioma , Derrame Pleural Maligno , Derrame Pleural , Humanos , Adenocarcinoma/diagnóstico , Biomarcadores Tumorais , Diagnóstico Diferencial , Imuno-Histoquímica , Mesotelioma/diagnóstico , Mesotelioma/patologia , Mesotelioma Maligno/diagnóstico , Derrame Pleural/diagnóstico , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/patologiaRESUMO
INTRODUCTION: Biliary brushing (BB) cytology has a sensitivity of 15%-65% and specificity approaching 100% for detecting malignancy. Fluorescence in-situ hybridization (FISH) using the UroVysion probe set has been advocated to enhance the detection of malignancies with reported sensitivity of 43%-84%. We sought to evaluate the performance of FISH in BB with equivocal cytology at our institution. MATERIALS AND METHODS: Patients with atypical and suspicious BB with concurrent diagnostic FISH performed at our institution from 2014 to 2021 were identified through a query of our pathology database. FISH (using UroVysion probe set containing centromere enumeration probes to chromosomes 3, 7, and 17) was positive if at least 5 cells demonstrated polysomy. Electronic medical records were reviewed for pathology results and outcomes. Patients were classified malignant if they had positive pathology or documented clinical impression of malignancy and benign if they had negative pathology and/or documented benign clinical course for at least 12 months. RESULTS: We identified 254 equivocal BB (238 atypical/16 suspicious) with concurrent FISH results from 191 patients (105 benign, 86 malignant). 12% (22/191) of patients were FISH positive. Twenty-four percent (21/86) of patients with malignancy had positive FISH but were nonspecific for pancreaticobiliary/ampullary adenocarcinomas. Almost all positive FISH were associated with malignancy (21/22; 95%). There was 1 positive FISH in a patient with primary sclerosing cholangitis who had a benign outcome. CONCLUSIONS: The small number of positive FISH results in BB with equivocal cytology raises the question of the optimal criteria for malignancy. Using only polysomy could result in lower sensitivity.
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Hibridização in Situ Fluorescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias dos Ductos Biliares/patologia , Neoplasias dos Ductos Biliares/diagnóstico , Neoplasias dos Ductos Biliares/genética , Ductos Biliares/patologia , Citodiagnóstico/métodos , Hibridização in Situ Fluorescente/métodos , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
In this paper, we consider the current and potential role of the latest generation of Large Language Models (LLMs) in medical informatics, particularly within the realms of clinical and anatomic pathology. We aim to provide a thorough understanding of the considerations that arise when employing LLMs in healthcare settings, such as determining appropriate use cases and evaluating the advantages and limitations of these models. Furthermore, this paper will consider the infrastructural and organizational requirements necessary for the successful implementation and utilization of LLMs in healthcare environments. We will discuss the importance of addressing education, security, bias, and privacy concerns associated with LLMs in clinical informatics, as well as the need for a robust framework to overcome regulatory, compliance, and legal challenges.
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The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.
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Linfoma não Hodgkin , Leucemia-Linfoma Linfoblástico de Células Precursoras , Pré-Escolar , Aberrações Cromossômicas , Fusão Gênica , Humanos , Linfoma não Hodgkin/genética , Masculino , Proteína de Leucina Linfoide-Mieloide/genética , Proteínas Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação GenéticaRESUMO
The current healthcare landscape lends itself to major changes, including elevating the prominence of telemedicine. Recent technological advances and external pressures have driven telemedicine to the forefront of medical reality. During an emergency declaration made March 17, 2020, the Centers for Medicare & Medicaid Services (CMS) stated the need for providers to use telemedicine to provide patients care in hospitals, clinics, nursing homes, and other settings across the states. Additionally, new policies have been implemented to better facilitate patient care, safety, and privacy. The convenience provided by this low resource modality facilitates the intercommunication between physicians and offers a suitable alternative for patients who are medically or socially unable to see providers in person. However, given the nature of the practice, much consideration is needed to build patient relationships and comfort. In the future, the impact of telemedicine on healthcare environments cannot be overstated, especially in hospice and nursing home settings where it stands to improve treatment efficacy and monitoring for the elderly. Newer inventions such as the remote patient monitoring system can act as safety nets for clinic patients, while improving accessibility of electronic health records (EHRs) will dramatically augment available treatment options. However, the spread of telehealth relies on community reimbursement and the ability for physicians to consistently offer the same services that are available in person. Additionally, it is imperative that physicians and other healthcare professionals integrate these new technologies into their fields while also maintaining the ethics of patient security and autonomy.