Rare Diseases Symptoms Automatic Extraction

MDM2 copy numbers in well-differentiated and dedifferentiated liposarcoma: characterizing progression to high-grade tumors.

[well-differentiated liposarcoma]

MDM2 gene amplification is associated with well-differentiated (WDL) and dedifferentiated liposarcomas (DDL). Using fluorescent in situ hybridization (FISH), we sought to characterize various patterns of MDM2 amplification among the morphologic spectrum of liposarcoma.Forty-six cases of liposarcoma in various sites were examined and included 22 WDLs, 14 DLLs, and 10 negative control subjects.The MDM2 amplification ratio (MDM2/CEP12) was lower in WDL (10.2) compared with DDL (18.3) cases (P = .0000002). An amplification ratio of 16 showed optimal sensitivity (0.86) and specificity (0.96) as a cutoff point for progression to DDL. Borderline areas, defined as tumors with increased cellularity and atypia but with preserved lipomatous differentiation, showed a significantly higher MDM2 ratio (17.5; P = .0007) compared with WDL. Central (retroperitoneal and intra-abdominal) tumors also showed a significantly higher MDM2 ratio than peripheral ones (P = .02).Differences in MDM2 amplification profiles among liposarcomas could help further define and predict progression to high-grade neoplasia.

Diseases presenting "neoplasia" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • hodgkin lymphoma, classical
  • liposarcoma
  • lymphangioleiomyomatosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • pyomyositis
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated