RESUMO
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.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 12 , Rearranjo Gênico , Hamartoma/genética , Pulmão/anormalidades , Adulto , Idoso , Sequência de Bases , Bandeamento Cromossômico , Mapeamento Cromossômico , Primers do DNA , Éxons , Feminino , Proteína HMGA2 , Hamartoma/patologia , Proteínas de Grupo de Alta Mobilidade/genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Fosfoproteínas/genética , Reação em Cadeia da PolimeraseRESUMO
The authors report a case of a 13-year old girl with a neurogenic tumor of the larynx. The tumor was localized in the submucosal region of the arytenoid and aryepiglottic area on the left side of the larynx. Histologically, it was classified as a neurinoma. As it was impossible to remove the tumor totally by endoscopic way, a lateral hypopharyngotomy had to be performed. Two years after this procedure, there are no functional defects or signs of recurrency.
