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先天性神经母细胞瘤的生化分析

Biochemical analysis in congenital neuroblastoma.

作者信息

Montero Domínguez Cristina, Ortiz Temprado Alicia, Martínez Figueras Laura, Guillamón Seoane Alba, Fernández Ruano Miguel

机构信息

Service of Clinical Biochemistry, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

出版信息

Adv Lab Med. 2022 Dec 16;4(1):120-127. doi: 10.1515/almed-2022-0112. eCollection 2023 Apr.

Abstract

OBJECTIVES

The incidence of congenital neuroblastoma has increased in the recent years. The purpose of this study was to describe the clinical and biochemical characteristics of cases of congenital neuroblastoma diagnosed in our center.

CASE PRESENTATION

We report three cases of congenital neuroblastoma diagnosed in our hospital. In two, diagnosis was made prenatally, whereas the other case was detected in the immediate neonatal period. In the three cases, neuroblastoma was located in the abdominal region and exhibited elevated concentrations of catecholamines or their metabolites in single voided urine samples. Two tumors were classified as stage M, and one as stage L2. The oncogen was not amplified in any of the cases studied. Histopathological analysis was favorable in the three cases. The tumor was resected in two patients. The three received chemotherapy.

CONCLUSIONS

The measurement of catecholamines and their metabolites is essential in the diagnosis of neuroblastoma. When 24 h urine cannot be collected, single voided urine can be used to calculate the index based on creatinine concentrations.

摘要

目的

近年来先天性神经母细胞瘤的发病率有所上升。本研究的目的是描述在我们中心诊断出的先天性神经母细胞瘤病例的临床和生化特征。

病例报告

我们报告了在我院诊断出的3例先天性神经母细胞瘤病例。其中2例在产前确诊,另一例在新生儿早期被发现。在这3例病例中,神经母细胞瘤位于腹部区域,单次晨尿样本中儿茶酚胺或其代谢产物浓度升高。2例肿瘤分类为M期,1例为L2期。在所研究的任何病例中癌基因均未扩增。3例病例的组织病理学分析结果良好。2例患者的肿瘤被切除。3例均接受了化疗。

结论

儿茶酚胺及其代谢产物的测定对于神经母细胞瘤的诊断至关重要。当无法收集24小时尿液时,可使用单次晨尿根据肌酐浓度计算指标。

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