盆腔神经母细胞瘤在19个月的大规模筛查中发现的持续性和可能的进展。

M L Bernstein, E M Azouz, W Woods, M Tuchman, L Renaud, B Lemieux
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引用次数: 0

摘要

目的:通过筛查尿儿茶酚胺水平升高来检测神经母细胞瘤的临床前检测通常会发现早期儿童,生物学上有利的疾病。目前尚不清楚在这种情况下必须进行多大力度的治疗。我们报告一个婴儿盆腔肿块最初被认为是粪瘤,因此没有治疗19个月。病例报告:一个2个月大的女孩被转介评估神经母细胞瘤的存在,因为在大规模筛查程序中检测到尿儿茶酚胺升高。虽然最初没有发现肿块,但尿儿茶酚胺逐渐升高,最终通过放射学确定了盆腔肿块。它被切除了。组织学显示为神经母细胞瘤,POG分期C,国际分期3,具有不利的岛田特征,虽然接近三倍体,未扩增的N-myc癌基因。化疗进行了五个周期,孩子仍然很好,没有任何疾病的迹象。结论:尽管大规模筛查项目经常发现早期,生物学上有利的神经母细胞瘤可能自发消退,但我们的病例在切除时尿儿茶酚胺水平上升,组织学特征不利。尽管在没有肿瘤的情况下尿儿茶酚胺持续升高是罕见的,但不寻常的肿瘤位置和粪瘤的放射学特征导致了最终诊断的延迟。
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Persistence and possible progression of a pelvic neuroblastoma detected by mass screening during 19 months.

Purpose: The preclinical detection of neuroblastoma by screening for elevated levels of urinary catecholamines often leads to the discovery of children with early-stage, biologically favorable disease. It is uncertain how vigorously therapy must be pursued in such cases. We report an infant whose pelvic mass was initially thought to be a fecaloma, and consequently was not treated for 19 months.

Case report: A 2-month-old girl was referred for evaluation for the presence of a neuroblastoma because of elevated urinary catecholamines detected in a mass screening program. Although no mass was initially found, urinary catecholamines became increasingly elevated, and a pelvic mass was finally radiologically identified. It was resected. Histology showed it to be a neuroblastoma, POG stage C, International stage 3, with unfavorable Shimada features, although near triploid with an unamplified N-myc oncogene. Chemotherapy was given for five cycles, and the child remains well, with no evidence of disease.

Conclusion: Although mass screening programs often detect early- stage, biologically favorable neuroblastomas that may spontaneously regress, our case had rising levels of urinary catecholamines and unfavorable histologic features at the time of resection. The unusual location of the tumor, and radiologic features of a fecaloma, contributed to the delay in definitive diagnosis, although persistence of elevated urinary catecholamines in the absence of a tumor is infrequent.

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