Involvement of 22q12 in a neurofibrosarcoma in neurofibromatosis type 1

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Abstract

We describe the cytogenetic and molecular genetic findings in a neurofibrosarcoma arising in a patient affected by neurofibromatosis type 1. Multiple chromosomal rearrangements were found but only a few of them were identified as clonal abnormalities, including a deletion of chromosome 22, which at the molecular level proved to be interstitial, mainly involving the 22q12 region. Loss of heterozygosity for markers D22S32 and MB was observed. These findings are in agreement with previous data which suggest a possible involvement of a gene located at 22q11–q13.1 during the neoplastic development of some neurofibromatosis type 1-associated tumors.

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This work was supported by funds from Grant C267/90 from Comunidad Autónoma de Madrid, from Ministerio de Educación y Ciencia, and from Fundación Científica de la Asociación Española contra el Cáncer.

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