Takeda Yuka, Sano Hideki, Kawano Asuka, Mochizuki Kazuhiro, Takahashi Nobuhisa, Kobayashi Shogo, Ohara Yoshihiro, Tasaki Kazuhiro, Hosoya Mitusuaki, Kikuta Atsushi
Department of Pediatric Oncology, Fukushima Medical University Hospital, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.
Department of Pediatrics, Fukushima Medical University, 1 Hikarigaoka, Fukushima City, Fukushima, 960-1295, Japan.
J Med Case Rep. 2018 May 3;12(1):119. doi: 10.1186/s13256-018-1640-0.
Ganglioneuroblastoma, nodular is defined as a composite tumor of biologically distinct clones. The peripheral neuroblastic tumors in this category are characterized by the presence of grossly visible neuroblastoma nodules coexisting with ganglioneuroblastoma, intermixed, or with ganglioneuroma. Making a correct diagnosis of ganglioneuroblastoma, nodular is often difficult by biopsy or partial tumor resection, because the neuroblastic nodule could be hidden and not sampled for pathological examination.
We report a case of a Japanese boy aged 3 years, 8 months, with an unresectable abdominal tumor and elevated vanillylmandelic acid and homovanillic acid levels. The initial biopsy was ganglioneuroma. However, after the second biopsy from a hidden neuroblastoma nodule that was clearly highlighted by fluorodeoxyglucose positron emission tomography/computed tomography, we reached the diagnosis of ganglioneuroblastoma, nodular. Because the nodule demonstrated neuroblastoma, differentiating subtype, with a low mitosis-karyorrhexis index (favorable histology) and nonamplified MYCN, the boy was treated according to the intermediate-risk protocol and is now alive and well 4 years after the diagnosis.
This case illustrates the critical role of fluorodeoxyglucose positron emission tomography/computed tomography for detecting a neuroblastoma nodule in a ganglioneuroblastoma.
结节型神经节神经母细胞瘤被定义为具有生物学上不同克隆的复合肿瘤。该类周围神经母细胞瘤的特征是存在肉眼可见的神经母细胞瘤结节，与神经节神经母细胞瘤共存、混合或伴有神经节瘤。通过活检或部分肿瘤切除往往难以对结节型神经节神经母细胞瘤做出正确诊断，因为神经母细胞瘤结节可能隐藏起来而未被取作病理检查。
我们报告一例3岁8个月的日本男孩，患有无法切除的腹部肿瘤，香草扁桃酸和高香草酸水平升高。初次活检结果为神经节瘤。然而，在对经氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描清晰显示的隐藏神经母细胞瘤结节进行第二次活检后，我们做出了结节型神经节神经母细胞瘤的诊断。由于该结节显示为神经母细胞瘤，具有低有丝分裂-核碎裂指数（良好组织学特征）且MYCN未扩增的分化亚型，该男孩按照中危方案接受治疗，诊断后4年现在仍存活且状况良好。
本病例说明了氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描在检测神经节神经母细胞瘤中的神经母细胞瘤结节方面的关键作用。
