APHP, Hôpital Robert Debré, Service de Pathologie, Paris, France.
Am J Surg Pathol. 2012 Aug;36(8):1141-9. doi: 10.1097/PAS.0b013e31825a6895.
Peripheral neuroblastic tumors are the most commonly occurring extracranial tumors in children. Although a reliable diagnosis is achievable in the majority of cases, diagnosis of a minority of peripheral neuroblastic tumor cases (especially undifferentiated neuroblastoma) poses a challenge compared with that of other pediatric small round blue-cell tumors. A panel of immunohistochemical markers and fusion transcripts is available for the diagnosis of such tumors, but the markers for neuroblastoma lack specificity and sensitivity. As the transcription factor PHOX2B is highly specific for the peripheral autonomic nervous system from which peripheral neuroblastic tumors are derived, we have assessed PHOX2B immunolabeling as a diagnostic tool in pediatric small round blue-cell tumors. We observed PHOX2B expression in all peripheral neuroblastic tumors, paragangliomas, and pheochromocytomas tested but in no other pediatric tumors among the 388 cases studied by expression microarray and the 109 cases studied by immunohistochemical analysis. We then assessed the results of PHOX2B immunohistochemistry in 12 cases of undifferentiated pediatric neoplasms: PHOX2B was expressed in 6/6 undifferentiated neuroblastomas and in no other small round blue-cell tumors. Finally, we showed that PHOX2B immunohistochemical analysis improves the diagnosis of undifferentiated neuroblastoma with high specificity and sensitivity.
外周神经母细胞瘤是儿童中最常见的颅外肿瘤。虽然大多数病例可以做出可靠的诊断，但与其他小儿小圆蓝细胞肿瘤相比，少数外周神经母细胞瘤病例（尤其是未分化神经母细胞瘤）的诊断具有挑战性。有一组免疫组化标志物和融合转录本可用于诊断此类肿瘤，但神经母细胞瘤的标志物缺乏特异性和敏感性。由于转录因子 PHOX2B 高度特异于外周自主神经系统，而外周神经母细胞瘤正是来源于此，因此我们评估了 PHOX2B 免疫标记作为小儿小圆蓝细胞肿瘤的诊断工具。我们观察到所有测试的外周神经母细胞瘤、副神经节瘤和嗜铬细胞瘤均表达 PHOX2B，但在通过表达微阵列研究的 388 例病例和通过免疫组织化学分析研究的 109 例病例中，均未在其他小儿肿瘤中观察到 PHOX2B 表达。然后，我们评估了 12 例未分化小儿肿瘤的 PHOX2B 免疫组织化学结果：6/6 例未分化神经母细胞瘤表达 PHOX2B，而其他小圆蓝细胞肿瘤均不表达。最后，我们表明 PHOX2B 免疫组织化学分析可提高未分化神经母细胞瘤的诊断特异性和敏感性。
