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1.
Diagn Cytopathol ; 49(12): E447-E452, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34411462

RESUMO

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor of intermediate malignancy, often with indolent behavior. Though most cases have a characteristic WWTR1-CAMTA1 gene fusion, a subtype of EHE with YAP1-TFE3 fusions and a distinct morphology has recently been described histologically, but no cases of YAP1-TFE3 EHE have been described in the cytology literature. We herein report on a case of YAP1-TFE3 fusion associated EHE diagnosed on fine-needle aspiration and core biopsy of a liver mass in an 18-year-old male patient who presented with synchronous lung and liver involvement. We also discuss the differential diagnosis of EHE on cytology specimens.


Assuntos
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Hemangioendotelioma Epitelioide/patologia , Fígado/patologia , Proteínas de Sinalização YAP/metabolismo , Adolescente , Biópsia por Agulha Fina , Hemangioendotelioma Epitelioide/diagnóstico por imagem , Humanos , Fígado/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Proteínas de Fusão Oncogênica/genética
2.
Cancer Cytopathol ; 129(4): 283-290, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33136337

RESUMO

BACKGROUND: Although 10% formalin is a standard preservative in pancreatic FNAs, the effect of CytoLyt on pancreatic tissue preservation has not been systematically explored. METHODS: Smears and cell blocks from CytoLyt-fixed (CF-CBs) and formalin-fixed (FF-CBs) pancreatic FNAs were blindly reviewed without knowledge of the fixative used, and the presence of tissue/tumor autolysis was noted. Controls included FF-CBs from pancreatic FNAs, CF-CBs from nonpancreatic FNAs, and 4 pancreatic FNAs with matched CF-CBs and FF-CBs. RESULTS: We found that 62 of 85 (73%) pancreatic FNAs with CF-CBs showed significant autolysis, which was most pronounced in acinar cells and/or tumor cells with benign acinar cells in the background, compared with 2 of 46 (4%) FF-CBs (P < .0001) and 3 of 26 (12%) CF-CBs from nonpancreatic FNAs (73% vs 12%; P < .0001). Of the 4 pancreatic FNAs with matched CF-CBs and FF-CBs, all 4 CF-CBs showed marked autolysis versus none of the matched FF-CBs. Of the 23 (27%) pancreatic FNAs with CF-CBs that did not show autolysis, 10 had no acinar cells, and 7 had only minute tissue fragments on CB. CONCLUSION: While CytoLyt is a useful fixative for nonpancreatic FNAs it is a suboptimal fixative for pancreatic FNAs and is associated with tissue/tumor autolysis in the majority of cases, influencing morphologic evaluation, and potentially immunocytochemical staining. Autolysis appears to be due to acinar enzymes whose effect is likely interrupted/inhibited by formalin fixation. Cytopathologists and cytotechnologists should be mindful of this pitfall and should avoid using CytoLyt as a fixative for pancreatic FNAs.


Assuntos
Células Acinares/citologia , Biópsia por Agulha Fina/métodos , Neoplasias Pancreáticas/patologia , Autólise , Feminino , Humanos , Masculino
3.
J Am Soc Cytopathol ; 10(2): 168-174, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32988789

RESUMO

INTRODUCTION: Adrenal gland lesions span a range of entities from benign and malignant primary neoplasms to metastatic tumors. Fine-needle aspiration (FNA) provides a minimally invasive diagnostic tool to stage patients with known malignancy and procure material for molecular testing. This study characterizes the clinicopathologic associations of patients with adrenal gland FNA from 2 large hospitals. MATERIALS AND METHODS: FNAs were identified by query of electronic medical record from 2002-2019. Clinical and pathological information was collated and correlated with corresponding surgical diagnosis when available. RESULTS: Of 139 cases, the majority (n = 127, 91%) were adequate computed tomography-guided FNAs and included the following diagnoses: positive for malignancy (n = 77, 55%), negative for malignancy (n = 32, 23%), neoplastic cells present (n = 16, 12%), nondiagnostic (n = 12, 9%), atypical (n = 1, 1%), and suspicious for carcinoma (n = 1, 1%). The majority (94%, n = 72 of 77) of malignancies were metastatic tumors, most frequently carcinoma (n = 53 of 72, 74%), followed by melanoma (n = 11 of 72, 15%), lymphoma (n = 4 of 72, 6%), and sarcoma (n = 4 of 72, 6%). Metastatic carcinomas included lung (n = 21 of 72, 29%), genitourinary (n = 12 of 72, 17%), and hepatobiliary or gastrointestinal tract (n = 11 of 72, 15%) primaries. Primary adrenal neoplasms (n = 23) included adenomas (n = 11 of 23, 48%), pheochromocytomas (n = 4 of 23, 17%), and myelolipomas (n = 3 of 23, 13%). Thirty-two patients with metastases died of disease after median follow-up of 8 months. CONCLUSIONS: High specimen adequacy (n = 127, 91%) and low indeterminate rates (n = 2, 2%) are achieved with adrenal FNA. Most aspirated lesions represent metastases from primary lung carcinomas, but other primary sites including those below the diaphragm are part of the diagnostic differential. Adrenal metastasis was associated with a poor prognosis, with median survival of 8 months.


Assuntos
Glândulas Suprarrenais/patologia , Biópsia por Agulha Fina , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/secundário , Glândulas Suprarrenais/citologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia Intervencionista , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
4.
Am Surg ; 85(7): 778-780, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31405428

RESUMO

Surgical emergencies related to visceral involvement of Kaposi sarcoma (KS) are rare complications of the disease. In this report, we describe a case of visceral KS causing small bowel intussusception in a young, previously undiagnosed human immunodeficiency virus (HIV)-positive patient. Southern surgeons should be particularly attentive to HIV/AIDS-related disease as a cause of surgical pathology, particularly in the southeast, and can play a significant advocacy role for improved access to HIV/AIDS diagnostic and treatment services.


Assuntos
Infecções por HIV/complicações , Neoplasias Intestinais/cirurgia , Intestino Delgado/patologia , Intussuscepção/cirurgia , Sarcoma de Kaposi/cirurgia , Adulto , Humanos , Masculino , Resultado do Tratamento
5.
Nat Commun ; 4: 2250, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23907271

RESUMO

Defects in endosomal sorting have been implicated in Alzheimer's disease. Endosomal traffic is largely controlled by phosphatidylinositol-3-phosphate, a phosphoinositide synthesized primarily by lipid kinase Vps34. Here we show that phosphatidylinositol-3-phosphate is selectively deficient in brain tissue from humans with Alzheimer's disease and Alzheimer's disease mouse models. Silencing Vps34 causes an enlargement of neuronal endosomes, enhances the amyloidogenic processing of amyloid precursor protein in these organelles and reduces amyloid precursor protein sorting to intraluminal vesicles. This trafficking phenotype is recapitulated by silencing components of the ESCRT (Endosomal Sorting Complex Required for Transport) pathway, including the phosphatidylinositol-3-phosphate effector Hrs and Tsg101. Amyloid precursor protein is ubiquitinated, and interfering with this process by targeted mutagenesis alters sorting of amyloid precursor protein to the intraluminal vesicles of endosomes and enhances amyloid-beta peptide generation. In addition to establishing phosphatidylinositol-3-phosphate deficiency as a contributing factor in Alzheimer's disease, these results clarify the mechanisms of amyloid precursor protein trafficking through the endosomal system in normal and pathological states.


Assuntos
Precursor de Proteína beta-Amiloide/metabolismo , Endossomos/metabolismo , Fosfatos de Fosfatidilinositol/metabolismo , Processamento de Proteína Pós-Traducional , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Sequência de Aminoácidos , Amiloide/metabolismo , Precursor de Proteína beta-Amiloide/química , Animais , Encéfalo/metabolismo , Encéfalo/patologia , Classe III de Fosfatidilinositol 3-Quinases/metabolismo , Complexos Endossomais de Distribuição Requeridos para Transporte/metabolismo , Endossomos/ultraestrutura , Inativação Gênica , Células HEK293 , Células HeLa , Humanos , Camundongos , Dados de Sequência Molecular , Proteínas Mutantes/metabolismo , Neurônios/metabolismo , Neurônios/ultraestrutura , Transporte Proteico , Frações Subcelulares/metabolismo , Ubiquitinação
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