Rare Diseases Symptoms Automatic Extraction

Molecular markers and imaging tools to identify malignant potential in Barrett's esophagus.

[esophageal adenocarcinoma]

Due to its rapidly rising incidence and high mortality, esophageal adenocarcinoma is a major public health concern, particularly in Western countries. The steps involved in the progression from its predisposing condition, gastroesophageal reflux disease, to its premalignant disorder, Barrett's esophagus, and to cancer, are incompletely understood. Current screening and surveillance methods are limited by the lack of population-wide utility, incomplete sampling of standard biopsies, and subjectivity of evaluation. Advances in endoscopic ablation have raised the hope of effective therapy for eradication of high-risk Barrett's lesions, but improvements are needed in determining when to apply this treatment and how to follow patients clinically. Researchers have evaluated numerous potential molecular biomarkers with the goal of detecting dysplasia, with varying degrees of success. The combination of biomarker panels with epidemiologic risk factors to yield clinical risk scoring systems is promising. New approaches to sample tissue may also be combined with these biomarkers for less invasive screening and surveillance. The development of novel endoscopic imaging tools in recent years has the potential to markedly improve detection of small foci of dysplasia in vivo. Current and future efforts will aim to determine the combination of markers and imaging modalities that will most effectively improve the rate of early detection of high-risk lesions in Barrett's esophagus.

Diseases presenting "early detection" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenomyeloneuropathy
  • allergic bronchopulmonary aspergillosis
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital diaphragmatic hernia
  • cowden syndrome
  • cystinuria
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • kallmann syndrome
  • krabbe disease
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pyomyositis
  • von hippel-lindau disease

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