Rare Diseases Symptoms Automatic Extraction

[Molecular pathological diagnosis of soft tissue tumors].

[pleomorphic liposarcoma]

Among soft tissue tumors, which have some difficulties in diagnosis and treatment, it is known that distinctive chromosomal and gene abnormalities such as chromosomal translocations and fusion genes resulting from these translocations can be detected. We have focused on the research and development of split-signal DNA probes for FISH analysis, which can establish an accurate diagnosis by detecting the specific fusion genes for soft tissue tumors. Using these probes as well as commercially available probes, we conduct the FISH analysis on formalin-fixed, paraffin-embedded histological specimens to apply these methods to the routine pathological diagnosis. In this article, we introduce (1) principle of detecting fusion genes by RT-PCR and FISH, (2) outlines of FISH using split-signal probes, and (3) results of FISH analysis in Ewing sarcoma/PNET, rhabdomyosarcoma, pleomorphic liposarcoma and extraskeletal myxoid chondrosarcoma.

Diseases presenting "and" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • aniridia
  • carcinoma of the gallbladder
  • cutaneous mastocytosis
  • cystinuria
  • esophageal squamous cell carcinoma
  • harlequin ichthyosis
  • hodgkin lymphoma, classical
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • liposarcoma
  • locked-in syndrome
  • neonatal adrenoleukodystrophy
  • omenn syndrome
  • oral submucous fibrosis
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • trochlear dysplasia

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