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1.
Diagn Cytopathol ; 49(12): E447-E452, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34411462

RESUMEN

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.


Asunto(s)
Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/metabolismo , Hemangioendotelioma Epitelioide/patología , Hígado/patología , Proteínas Señalizadoras YAP/metabolismo , Adolescente , Biopsia con Aguja Fina , Hemangioendotelioma Epitelioide/diagnóstico por imagen , Humanos , Hígado/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Proteínas de Fusión Oncogénica/genética
2.
J Am Soc Cytopathol ; 10(2): 168-174, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32988789

RESUMEN

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.


Asunto(s)
Glándulas Suprarrenales/patología , Biopsia con Aguja Fina , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/patología , Neoplasias de las Glándulas Suprarrenales/secundario , Glándulas Suprarrenales/citología , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radiografía Intervencional , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
3.
Cancer Cytopathol ; 129(4): 283-290, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33136337

RESUMEN

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.


Asunto(s)
Células Acinares/citología , Biopsia con Aguja Fina/métodos , Neoplasias Pancreáticas/patología , Autólisis , Femenino , Humanos , Masculino
4.
Am Surg ; 85(7): 778-780, 2019 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-31405428

RESUMEN

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.


Asunto(s)
Infecciones por VIH/complicaciones , Neoplasias Intestinales/cirugía , Intestino Delgado/patología , Intususcepción/cirugía , Sarcoma de Kaposi/cirugía , Adulto , Humanos , Masculino , Resultado del Tratamiento
5.
Nat Commun ; 4: 2250, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23907271

RESUMEN

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.


Asunto(s)
Precursor de Proteína beta-Amiloide/metabolismo , Endosomas/metabolismo , Fosfatos de Fosfatidilinositol/metabolismo , Procesamiento Proteico-Postraduccional , Enfermedad de Alzheimer/metabolismo , Enfermedad de Alzheimer/patología , Secuencia de Aminoácidos , Amiloide/metabolismo , Precursor de Proteína beta-Amiloide/química , Animales , Encéfalo/metabolismo , Encéfalo/patología , Fosfatidilinositol 3-Quinasas Clase III/metabolismo , Complejos de Clasificación Endosomal Requeridos para el Transporte/metabolismo , Endosomas/ultraestructura , Silenciador del Gen , Células HEK293 , Células HeLa , Humanos , Ratones , Datos de Secuencia Molecular , Proteínas Mutantes/metabolismo , Neuronas/metabolismo , Neuronas/ultraestructura , Transporte de Proteínas , Fracciones Subcelulares/metabolismo , Ubiquitinación
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