Abstract
We report the case of a patient with a BRCA2 germline mutation who developed a localized pleomorphic soft tissue sarcoma of the
leg with poor prognostic features. BRCA2 germline mutations were not previously reported to be associated with pleomorphic
sarcoma. BRCA2 loss-of-heterozygosity was found in the tumor, resulting in a complete BRCA2 loss-of-function. BRCA2 deficiency is associated with sensitivity to cisplatin-based chemotherapy in breast
and ovarian cancer patients. We used a cisplatin-based chemotherapy. A rapid major
partial response was obtained, which allowed a curative and conservative surgical
resection of the sarcoma followed by adjuvant irradiation. This case illustrates that
sarcoma patients may present unexpected but targetable genetic abnormalities and that
BRCA2 loss-of-function may be targetable in sarcoma as it is associated with enhanced sensitivity
to cisplatin. Our observation emphasizes the input of genomic medicine in clinical
practice, its importance for treatment decisions, and the overlap between constitutional
and somatic genetics.
Key Indexing Terms
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Article info
Publication history
Published online: May 01, 2018
Accepted:
April 28,
2018
Received:
January 16,
2018
Footnotes
☆The authors have no financial or other conflicts of interest to disclose.
Identification
Copyright
© 2018 Southern Society for Clinical Investigation. Published by Elsevier B.V. All rights reserved.
