Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Histopathology. 2018 Mar;72(4):685-696. doi: 10.1111/his.13412. Epub 2017 Dec 21.
This study evaluated the utility of Phox2b in paediatric tumours. Previously, tyrosine hydroxylase (TH) was the most widely utilised sympathoadrenal marker specific for neural crest tumours with neuronal/neuroendocrine differentiation. However, its sensitivity is insufficient. Recently Phox2b has emerged as another specific marker for this entity.
Phox2b immunohistochemistry (IHC) was performed on 159 paediatric tumours, including (group 1) 65 neural crest tumours with neuronal differentiation [peripheral neuroblastic tumours (pNT)]: 15 neuroblastoma undifferentiated (NB-UD), 10 NB poorly differentiated (NB-PD), 10 NB differentiating (NB-D), 10 ganglioneuroblastoma intermixed (GNBi), 10 GNB nodular (GNBn) and 10 ganglioneuroma (GN); (group 2) 23 neural crest tumours with neuroendocrine differentiation [pheochromocytoma/paraganglioma (PCC/PG)]; (group 3) 27 other neural crest tumours including one composite rhabdomyosarcoma/neuroblastoma; and (group 4) 44 non-neural crest tumours. TH IHC was performed on groups 1, 2 and 3. Phox2b was expressed diffusely in pNT (n = 65 of 65), strongly in NB-UD and NB-PD and with less intensity in NB-D, GNB and GN. Diffuse TH was seen in all NB-PD, NB-D, GNB and GN, but nine of 15 NB-UD and a nodule in GNBn did not express TH (n = 55 of 65). PCC/PG expressed diffuse Phox2b (n = 23 of 23) and diffuse TH, except for one tumour (n = 22 of 23). In composite rhabdomyosarcoma, TH was expressed only in neuroblastic cells and Phox2b was diffusely positive in neuroblastic cells and focally in rhabdomyosarcoma. All other tumours were negative for Phox2b (n = none of 44).
Phox2b was a specific and sensitive marker for pNT and PCC/PG, especially useful for identifying NB-UD often lacking TH. Our study also presented a composite rhabdomyosarcoma/neuroblastoma of neural crest origin.
本研究评估 Phox2b 在儿科肿瘤中的应用。此前，酪氨酸羟化酶（TH）是最广泛用于具有神经元/神经内分泌分化的神经嵴肿瘤的交感肾上腺标志物。然而，其敏感性不足。最近，Phox2b 已成为该实体的另一个特异性标志物。
对 159 例儿科肿瘤进行了 Phox2b 免疫组化（IHC）检测，包括（第 1 组）65 例具有神经元分化的神经嵴肿瘤[外周神经母细胞瘤（pNT）]：15 例未分化神经母细胞瘤（NB-UD），10 例 NB 低分化（NB-PD），10 例 NB 分化（NB-D），10 例神经节母细胞瘤混合（GNBi），10 例神经节母细胞瘤结节（GNBn）和 10 例神经节细胞瘤（GN）；（第 2 组）23 例具有神经内分泌分化的神经嵴肿瘤[嗜铬细胞瘤/副神经节瘤（PCC/PG）]；（第 3 组）27 例其他神经嵴肿瘤，包括 1 例横纹肌肉瘤/神经母细胞瘤复合瘤；（第 4 组）44 例非神经嵴肿瘤。第 1、2 和 3 组进行了 TH IHC 检测。Phox2b 在 pNT（n = 65 例中的 65 例）中弥漫表达，在 NB-UD 和 NB-PD 中强表达，在 NB-D、GNB 和 GN 中表达强度较低。所有 NB-PD、NB-D、GNB 和 GN 均可见弥漫性 TH，但 15 例 NB-UD 中有 9 例和 GNBn 中的一个结节不表达 TH（n = 65 例中的 55 例）。PCC/PG 弥漫表达 Phox2b（n = 23 例中的 23 例）和弥漫性 TH，除 1 例肿瘤（n = 23 例中的 22 例）外。在横纹肌肉瘤复合瘤中，TH 仅在神经母细胞瘤细胞中表达，Phox2b 在神经母细胞瘤细胞中弥漫阳性，在横纹肌肉瘤中局灶性阳性。所有其他肿瘤均为 Phox2b 阴性（n = 44 例中均无）。
Phox2b 是 pNT 和 PCC/PG 的特异性和敏感性标志物，对于识别缺乏 TH 的 NB-UD 尤其有用。我们的研究还提出了一种源自神经嵴的横纹肌肉瘤/神经母细胞瘤复合瘤。
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