HMGI-C rearrangements as the molecular basis for the majority of pulmonary chondroid hamartomas: a survey of 30 tumors

Oncogene. 1996 Feb 1;12(3):515-21.


Pulmonary chondroid hamartomas (PCH) are benign tumors of the lung characterized by a more or less high degree of mesenchymal metaplasia. In our series we investigated 30 PCH by a combination of cytogenetic and molecular methods. 18 tumors (60%) had cytogenetically detectable aberrations involving either 12q14-15 or 6p21 with a clear predominance of chromosomal abnormalities involving 12q14-15 (15 tumors). As in subgroups of pleomorphic adenomas of the salivary glands, leiomyomas of the uterus, and lipomas with 12q14-15 abnormalities the HMGI-C gene is frequently rearranged we tested PCH with either 12q14-15 abnormalities or normal karyotype by FISH and 3' RACE experiments for rearrangements of HMGI-C. Rearrangements were found in all cases with chromosomal 12q14-15 abnormalities and further six cases with an apparently normal karyotype. By the combination of cytogenetics with molecular techniques the percentage of cases with intragenic rearrangements of HMGI-C or rearrangements of its immediate surrounding was thus increased to 70% (21/30 cases). Considering all types of aberrations within this series 80% (24/30) of all PCH were aberrant. This is the first report on a combined molecular and cytogenetic analysis of a large series of pulmonary chondroid hamartomas indicating that rearrangements of HMGI-C, a member of the high mobility group protein gene family, are the leading molecular events in the genesis of PCH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Base Sequence
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Disorders*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • DNA Primers
  • Exons
  • Female
  • Gene Rearrangement*
  • HMGA2 Protein
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • High Mobility Group Proteins / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Lung / abnormalities*
  • Lung / pathology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Phosphoproteins / genetics
  • Polymerase Chain Reaction


  • DNA Primers
  • HMGA2 Protein
  • High Mobility Group Proteins
  • Phosphoproteins