Kapur Raj P, Reed Robyn C, Finn Laura S, Patterson Kathleen, Johanson Judy, Rutledge Joe C
Department of Laboratories, Chidren's Hospital and Regional Medical Center, Seattle, WA, USA.
Pediatr Dev Pathol. 2009 Jan-Feb;12(1):6-15. doi: 10.2350/08-02-0424.1.
Diagnosis of Hirschsprung disease (HSCR) relies on histologic and/or histochemical staining of sections from suction rectal biopsies. Acetylcholinesterase histochemistry (AChE) facilitates diagnosis but is not universally employed, in part because it requires special tissue handling. Calretinin immunohistochemistry (IHC) may be a useful alternative, because loss of calretinin immunoreactive nerves reportedly correlates spatially with aganglionosis. We investigated the patterns of calretinin IHC in suction rectal biopsies from HSCR and non-HSCR patients and compared the diagnostic value of calretinin IHC with a widely used rapid AChE method. In suction rectal biopsies that contain ganglion cells, small nerves in the lamina propria, muscularis mucosae, and superficial submucosa contain granular aggregates of calretinin immunoreactivity. Immunolabeling of these nerves is completely absent in the aganglionic biopsies of HSCR patients. Multiple observers independently reviewed calretinin IHC and AChE sections of suction rectal biopsies from 14 HSCR patients and 17 non-HSCR controls. Five observers, blinded to the correct diagnosis, scored each patient's calretinin IHC and AChE slides as HSCR, not HSCR, or equivocal. The frequencies of major and minor discrepant diagnoses were compared. Calretinin IHC yielded no misdiagnoses or major discrepancies between observers. In contrast, 2 misdiagnoses and significantly more interobserver disagreement resulted from the AChE-stained sections. Calretinin IHC appears to be a reasonable, and potentially superior, alternative to AChE as an adjunctive diagnostic method for evaluating suction rectal biopsies for HSCR.
先天性巨结肠症（HSCR）的诊断依赖于经直肠吸引活检组织切片的组织学和/或组织化学染色。乙酰胆碱酯酶组织化学（AChE）有助于诊断，但并非普遍采用，部分原因是它需要特殊的组织处理。钙视网膜蛋白免疫组织化学（IHC）可能是一种有用的替代方法，因为据报道钙视网膜蛋白免疫反应性神经的缺失在空间上与无神经节细胞症相关。我们研究了HSCR和非HSCR患者经直肠吸引活检组织中钙视网膜蛋白IHC的模式，并将钙视网膜蛋白IHC的诊断价值与一种广泛使用的快速AChE方法进行了比较。在含有神经节细胞的经直肠吸引活检组织中，固有层、黏膜肌层和浅黏膜下层的小神经含有钙视网膜蛋白免疫反应性的颗粒聚集物。HSCR患者的无神经节细胞活检组织中这些神经的免疫标记完全缺失。多名观察者独立检查了14例HSCR患者和17例非HSCR对照者的经直肠吸引活检组织的钙视网膜蛋白IHC和AChE切片。5名对正确诊断不知情的观察者将每位患者的钙视网膜蛋白IHC和AChE玻片评为HSCR、非HSCR或不明确。比较了主要和次要诊断差异的频率。钙视网膜蛋白IHC未产生误诊或观察者之间的主要差异。相比之下，AChE染色切片导致了2例假诊和明显更多的观察者间分歧。钙视网膜蛋白IHC似乎是一种合理的、可能更优的替代AChE的方法，作为评估HSCR经直肠吸引活检组织的辅助诊断方法。
