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Case Reports
. 2015 Mar-Apr;133(2):151-3.
doi: 10.1590/1516-3180.2012.6740004. Epub 2014 Sep 26.

Angiosarcoma in previously irradiated breast in patient with Li-Fraumeni syndrome. A case report

Oséias Vargas Barbosa  1 , André Borba Reiriz  2 , Ricardo Antônio Boff  1 , Willian Passos Oliveira  1 , Luiza Rossi  1
Affiliations
Case Reports

Angiosarcoma in previously irradiated breast in patient with Li-Fraumeni syndrome. A case report

Oséias Vargas Barbosa et al. Sao Paulo Med J. 2015 Mar-Apr.

Abstract
in English, Portuguese

Context: 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.

Case report: 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.

Conclusions: 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.

CONTEXTO:: A síndrome de Li-Fraumeni é doença rara que apresenta padrão de herança autossômica dominante e alta penetrância, definindo possibilidade de 50% no desenvolvimento de neoplasias antes dos 30 anos, incluindo nesses casos os sarcomas em mama. Pacientes portadoras dessa síndrome que requerem tratamento radioterápico têm risco aumentado de desenvolver neoplasias secundárias, incluindo os angiossarcomas.

RELATO DE CASO:: Este é um relato de caso de paciente feminina, portadora da síndrome de Li-Fraumeni. Em outubro de 2005, ela teve diagnóstico de carcinoma ductal invasor da mama direita, sendo submetida à setorectomia. Recebeu quimioterapia e radioterapia adjuvante; trastuzumabe e tamoxifeno também fizeram parte do tratamento. Recentemente, procurou atendimento em nosso serviço, com queixa de hiperemia e nodulação em mama direita, e foi submetida a ressecção cirúrgica que revelou angiossarcoma epitelioide.

CONCLUSÕES:: Quando a predisposição genética da síndrome de Li-Fraumeni está documentada, deve-se adequar a terapêutica a fim de minimizar riscos, evitando tratamentos cirúrgicos conservadores e priorizando a mastectomia sem radioterapia. Nos casos em que se justifica o uso de radioterapia, os pacientes devem ser acompanhados de forma intensiva.

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Conflict of interest statement

Conflict of interest: None

Figures

Figure 1.
Figure 1.. Neoplasm composed of spindle cells showing pleomorphic epithelioid eosinophilic cytoplasm and large hyperchromatic nuclei (A and B). Immunohistochemical study showing diffuse expression of CD 31 (C) and CD 34 (D).
Table 1.
Table 1.. Search strategies performed on January 13, 2014, and results from PubMed, Lilacs and Emabse regarding the topic of Li-Fraumeni syndrome and radiotherapy and breast neoplasm and hemangiosarcoma or P53 genes
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts