Abstract
Li-Fraumeni syndrome is a rare disease with an autosomal dominant inheritance pattern and high penetrance that defines a 50% chance of developing cancer before the age of 30 years, including cases of breast sarcoma. Patients with this syndrome who require radiotherapy have an increased risk of developing secondary malignancies including angiosarcomas. This was a case report on a female patient with Li-Fraumeni syndrome. In October 2005, she was diagnosed with invasive ductal carcinoma of the right breast and underwent sectorectomy. She then received chemotherapy and adjuvant radiotherapy. Trastuzumab and tamoxifen were also part of the treatment. She recently sought care at our hospital, complaining of hyperemia and nodulation in the right breast, and underwent surgical resection that revealed epithelioid angiosarcoma. When genetic predisposition due to Li-Fraumeni syndrome is documented, the therapy should be adapted so as to minimize the risk. Thus, conservative surgical treatments should be avoided and mastectomy without radiation should be prioritized. In cases in which use of radiotherapy is justified, patients should be followed up intensively.
Highlights
Li-Fraumeni syndrome is an autosomal dominant disease and has high penetrance, defining a 50% chance of developing cancer before the age of 30 years
TP53 gene mutations that occur in Li-Fraumeni syndrome may predispose towards the rare diagnosis of sarcoma in breast cancer
Patients who undergo conservative therapy for breast cancer with surgery and adjuvant radiotherapy are at increased risk of developing secondary tumors in the breast.[1]
Summary
Li-Fraumeni syndrome is an autosomal dominant disease and has high penetrance, defining a 50% chance of developing cancer before the age of 30 years. TP53 gene mutations that occur in Li-Fraumeni syndrome may predispose towards the rare diagnosis of sarcoma in breast cancer. Patients who undergo conservative therapy for breast cancer with surgery and adjuvant radiotherapy are at increased risk of developing secondary tumors in the breast.[1] It is known that radiotherapy is considered to be a risk factor for development of sarcomas in soft tissues, including breast tissue. Because of these factors, reports of malignancies secondary to radiotherapy have arisen, including cases of angiosarcomas
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Schedule a callMore From: Sao Paulo medical journal = Revista paulista de medicina
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