Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report

Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15-20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. However, genetic alteration profiles of DDLPS as well as the role of NF1 mutations have not bee...

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Bibliographic Details
Published in:BMC medical genetics 2020-10, Vol.21 (1), p.1-200, Article 200
Main Authors: Kim, Yoon-Seob, Shin, Sun, Jung, Seung-Hyun, Chung, Yeun-Jun
Format: Article
Language:English
Subjects:
Cancer
Cancer genetics
Cancer metastasis
Case Report
Case reports
Censuses
Copy number
Copy number alteration
Copy number alternation
Genes
Genetic aspects
Genomes
Health aspects
Liposarcoma
Lung cancer
Medical research
Metastases
Metastasis
Mutation
NF1
Sarcoma
Software
Tumorigenesis
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Summary:Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15-20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. However, genetic alteration profiles of DDLPS as well as the role of NF1 mutations have not been studied extensively. Our results suggest that, in addition to the 12q13-15 amplification, NF1 inactivation mutation and other CNAs may contribute to DDLPS tumorigenesis accompanied by aggressive clinical features.
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-020-01137-4