Rare Diseases Symptoms Automatic Extraction

Endocrine cancer syndromes: an update.

[von hippel-lindau disease]

Endocrine neoplasms comprise a variety of benign and malign tumors that arise from the endocrine glands or neuroendocrine tissues. Although most endocrine neoplasms are sporadic, others are secondary to mutations of many known tumor-predisposing genes. Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Multiple Endocrine Neoplasia type 4 (MEN4) syndromes, and inherited syndromes with different endocrine neoplasms (von Hippel-Lindau disease, Carney complex, Neurofibromatosis type 1, others) are heterogeneous group of cancer susceptibility syndromes that affect one or more of the endocrine glands or neuroendocrine tissues. Genetic studies and researches as well as technological possibilities allowed for detection of new endocrine cancer syndromes and genes leading to tumor susceptibility. In addition, early detection of children at risk for endocrine cancer syndromes using molecular analysis methods provided opportunity to regular monitoring of potential malignancies and timely intervention for these cases (e.g. early prophylactic thyroidectomy in MEN2). This review will describe the clinical, genetic, diagnostic and therapeutic options for endocrine cancer syndromes based on the current literature data.

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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