Braubach Peter, Lippmann Torsten, Raoult Didier, Lagier Jean-Christophe, Anagnostopoulos Ioannis, Zender Steffen, Länger Florian Peter, Kreipe Hans-Heinrich, Kühnel Mark Philipp, Jonigk Danny
Institute of Pathology, Hannover Medical School (MHH), Hanover, Germany.
Aix Marseille University, CNRS, IRD, INSERM, AP-HM, URMITE, IHU Méditerranée Infection, Marseille, France.
Front Med (Lausanne). 2017 Jun 22;4:87. doi: 10.3389/fmed.2017.00087. eCollection 2017.
Whipple's disease (WD) is a rare chronic systemic infection with a wide range of clinical symptoms, routinely diagnosed in biopsies from the small intestine and other tissues by periodic acid-Schiff (PAS) diastase staining and immunohistological analysis with specific antibodies. The aim of our study was to improve the pathological diagnosis of WD. Therefore, we analyzed the potential of fluorescence hybridization (FISH) for diagnosing WD, using a -specific probe. 19 formalin-fixed paraffin-embedded (FFPE) duodenal biopsy specimens of 12 patients with treated (6/12) and untreated (6/12) WD were retrospectively examined using PAS diastase staining, immunohistochemistry, and FISH. 20 biopsy specimens with normal intestinal mucosa, , or mycobacterial infection, respectively, served as controls. We successfully detected in tissue biopsies with a sensitivity of 83% in untreated (5/6) and 40% in treated (4/10) cases of WD. In our study, we show that FISH-based diagnosis of individual vital in FFPE specimens is feasible and can be considered as ancillary diagnostic tool for the diagnosis of WD in FFPE material. We show that FISH not only detect active WD but also be helpful as an indicator for the efficiency of antibiotic treatment and for detection of recurrence of disease when the signal of PAS diastase and immunohistochemistry lags behind the recurrence of disease, especially if the clinical course of the patient and antimicrobial treatment is considered.
惠普尔病（WD）是一种罕见的慢性全身性感染，具有广泛的临床症状，通常通过小肠和其他组织活检的过碘酸希夫（PAS）淀粉酶染色以及用特异性抗体进行免疫组织学分析来诊断。我们研究的目的是改善WD的病理诊断。因此，我们使用一种特异性探针分析了荧光杂交（FISH）诊断WD的潜力。对12例已治疗（6/12）和未治疗（6/12）的WD患者的19份福尔马林固定石蜡包埋（FFPE）十二指肠活检标本进行回顾性检查，采用PAS淀粉酶染色、免疫组织化学和FISH。分别选取20份具有正常肠黏膜、或分枝杆菌感染的活检标本作为对照。我们在组织活检中成功检测到，在未治疗的WD病例（5/6）中灵敏度为83%，在已治疗的病例（4/10）中灵敏度为40%。在我们的研究中，我们表明基于FISH对FFPE标本中单个活的进行诊断是可行的，并且可被视为FFPE材料中WD诊断的辅助诊断工具。我们表明FISH不仅能检测活动性WD，而且当PAS淀粉酶和免疫组织化学信号落后于疾病复发时，尤其是考虑到患者的临床病程和抗菌治疗时，FISH作为抗生素治疗效果的指标以及疾病复发检测也很有帮助。
