RESUMEN
Objective: To investigate the clinicopathological, immunohistochemical and molecular genetic characteristics of gastric carcinoma with NTRK-rearrangement/amplification. Methods: The clinicopathological data of gastric carcinoma cases with NTRK-rearrangement/amplification diagnosed from January 2011 to September 2020 at the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, China, were collected. The clinicopathological, immunophenotypic and molecular pathological features were analyzed. The relevant literature was reviewed. Results: There were 4 cases of gastric carcinoma with NTRK-rearrangement/amplification. All 4 patients were male, aged 57-67 years (average, 63 years). Tumor sizes ranged from 3.5 to 5.2 cm (average, 4.8 cm). All tumors were in the antrum. All 4 patients underwent radical gastrectomy and were followed up after the surgery. Morphologically, all tumors showed histological features with enteroblastic-differentiated gastric carcinoma. Tumor cells showed predominantly tubular/papillary architecture, with conspicuous vesicular nuclei and pale staining or transparent cytoplasm. Immunohistochemistry showed pan-TRK expression in all cases, with various degrees of positivity in the cytoplasm. All cases were subject to NTRK1/2/3 detection using fluorescence in situ hybridization. There were NTRK translocations in 2 cases and NTRK amplifications in 2 cases. These cases were further verified by RNAseq next generation sequencing which confirmed that NTRK1 gene translocation (TPM3-NTRK1) and NTRK2 gene translocation (NTRK2-SMCHD1) occurred in two cases, respectively. Conclusions: NTRK mutation occurs less frequently in gastric cancer. In this study, the cases mainly occur in the antrum. The morphology has the characteristics of enteroblastic differentiation. The tumors have unique histological, immunophenotypic and molecular characteristics, which require much attention from pathologists to effectively guide clinicians to choose the best treatment.
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Carcinoma , Neoplasias Gástricas , Humanos , Masculino , Femenino , Receptor trkA/genética , Neoplasias Gástricas/genética , Neoplasias Gástricas/cirugía , Hibridación Fluorescente in Situ , Biomarcadores de Tumor/genética , Translocación Genética , Proteínas de Fusión Oncogénica/genética , Proteínas Cromosómicas no Histona/genéticaAsunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Neoplasias Pulmonares , Quinasa de Linfoma Anaplásico/genética , Carcinoma de Células Renales/genética , Femenino , Reordenamiento Génico , Humanos , Neoplasias Renales/genética , Neoplasias Pulmonares/genética , Masculino , Inhibidores de Proteínas QuinasasRESUMEN
White matter lesion (WML) in magnetic resonance imaging is commonly observed in patients with cerebral small vessel disease (SVD), but the pathological mechanism of WML in SVD is still unclear. We observed the metabolism and microscopic anatomy of white matter in SVD patients. Twelve subjects clinically diagnosed with SVD and 6 normal control subjects were examined with magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI). The white matter at the centrum semiovale level was selected as the region of interest (ROI). The ROI metabolism parameters, including N-acetyl-l-aspartic acid (NAA), creatine (Cr), and choline (Cho) were measured by MRS. Microscopic parameters such as mean diffusion (MD) and fractional anisotropy (FA) in ROI were obtained by DTI. Compared with the normal control group, bilateral MD values in the SVD group were significantly elevated, whereas bilateral FA values in SVD were decreased, but the difference was not statistically significant. Additionally, NAA/Cho, Cho/Cr, and NAA/Cr showed no significant statistical differences. Our study suggests that the mechanisms of the SVD cognitive impairment are related to damage of the white matter structures rather than to brain metabolism.
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Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Imagen de Difusión Tensora , Espectroscopía de Resonancia Magnética , Sustancia Blanca/patología , Adulto , Anciano , Anciano de 80 o más Años , Encéfalo/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/patología , Trastornos del Conocimiento/genética , Trastornos del Conocimiento/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Sustancia Blanca/diagnóstico por imagenRESUMEN
Accurate classification of stroke has significant impact on patient care and conduction of stroke clinical trials. The current systems such as TOAST, SSS-TOAST, Korean TOAST, and A-S-C-O have limitations. With the advent of new imaging technology, there is a need to have a more accurate stroke subclassification system. Chinese ischemic stroke subclassification (CISS) system is a new two step system aims at the etiology and then underlying mechanism of a stroke. The first step classify stroke into five categories: large artery atherosclerosis (LAA), including atherosclerosis of aortic arch and intra-/extracranial large arteries, cardiogenic stroke, penetrating artery disease, other etiology, and undetermined etiology. The second step is to further classify the underlying mechanism of ischemic stroke from the intracranial and extracranial LAA into the parent artery (plaque or thrombosis) occluding penetrating artery, artery-to-artery embolism, hypoperfusion/impaired emboli clearance, and multiple mechanisms. Although clinical validation of CISS is being planned, CISS is an innovative system that offers much more detailed information on the pathophysiology of a stroke.