PHOX2B免疫组化染色在先天性巨结肠病理诊断中的应用价值

doi:10.3969/j.issn.1671-7171.2025.11.020

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Abstract 【Objective】To investigate the expression of PHOX2B (homeobox protein 2B) immunohistochemical staining in the pathological diagnosis of Hirschsprung's disease (HD).【Methods】Pathological specimens from 33 HD patients (the HD group) treated in our hospital from January 2021 to September 2022 were selected, along with intestinal wall pathological specimens from 10 patients diagnosed with intestinal necrosis or perforation (the control group). Both groups underwent PHOX2B and S100 immunohistochemical staining. Results were interpreted based on immunohistochemical reading methods. Microscopic photography of HD dilated segment resection margins after PHOX2B staining was performed, and statistical analysis of image parameters for mature and immature ganglion cells was conducted using image analysis techniques. 【Results】PHOX2B protein was specifically expressed in the nuclei of intestinal wall ganglion cells, while S100 staining was negative in ganglion cells but positive in nerve fibers, Schwann cells, and pericytes. Mature ganglion cell nuclei were large and round, with PHOX2B staining predominantly appearing as light brown; Immature ganglion cell nuclei were small, elongated, or polygonal, with PHOX2B staining mostly dark brown. The long-to-short diameter ratio of mature ganglion cell nuclei was significantly lower than that of immature nuclei (P<0.001), while the area of mature ganglion cell nuclei was significantly larger than that of immature nuclei (P<0.001). PHOX2B expression level was significantly lower in mature ganglion cell nuclei compared to immature ones (P<0.001). 【Conclusion】PHOX2B immunohistochemical staining effectively reflects the presence of ganglion cells in the intestinal wall tissue of HD patients and can synergize with S100 immunohistochemical staining, providing high accuracy and simplicity for the pathological diagnosis of congenital megacolon.

Key words： Hirschsprung Disease Genes, Homeobox Immunohistochemistry

Received: 17 July 2025

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R726.2

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	TAN Zhiwen
	ZHENG Taiqing
	ZUO Guoyu
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Cite this article:

TAN Zhiwen,ZHENG Taiqing,ZUO Guoyu, et al. Application of PHOX2B Immunohistochemical Staining in Pathological Diagnosis of Hirschsprung's Disease[J]. JOURNAL OF CLINICAL RESEARCH, 2025, 42(11): 1913-1916.

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http://journal07.magtech.org.cn/yxlcyj/EN/10.3969/j.issn.1671-7171.2025.11.020 OR http://journal07.magtech.org.cn/yxlcyj/EN/Y2025/V42/I11/1913

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