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

Barbosa, O.; Reiriz, André Borba; Boff, Ricardo Antônio; Oliveira, Willian Passos; Rossi, Lia Mara

doi:10.1590/1516-3180.2012.6740004

Cited by 9 publications

(3 citation statements)

References 13 publications

(26 reference statements)

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“…Follow-up is in keeping with the Scottish Sarcoma National Follow-Up guidelines with 4 monthly clinical assessment, chest X-ray and annual regional imaging [5]. Genetic testing should be considered in this group of patients, as pre-existing genetic abnormalities such as BRCA and p53 mutations may potentiate the carcinogenic effects of irradiation, leading to secondary angiosarcoma [6][7][8].…”

Section: Discussionmentioning

confidence: 99%

Radiation-associated angiosarcoma after autologous breast reconstruction: report of two cases in a plastic surgery unit

et al. 2019

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Radiation-associated breast angiosarcoma is a rare diagnosis but is commonly reported. Angiosarcoma occurring in nonbreast tissue in breasts that have been reconstructed with autologous tissue following mastectomy is extremely rare. In our unit, we have managed two patients with angiosarcoma arising in non-breast tissue autologous reconstructions. Our report emphasises that any tissue treated with radiotherapy-that is, the residual mastectomy skin flaps or non-breast tissue autologous reconstructions-are at a risk of secondary angiosarcoma. We also discuss recommended surgical management, surveillance and genetic testing. Level of Evidence is V, risk study.

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Section: Discussionmentioning

confidence: 99%

Radiation-associated angiosarcoma after autologous breast reconstruction: report of two cases in a plastic surgery unit

et al. 2019

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“… 91 Barbosa et al described a case of soft tissue angiosarcoma ten years after ART in the irradiated area of a young Li-Fraumeni patient treated with breast conservative surgery. 92 Henry et al reported a case of leiomyosarcoma of the chest wall, which was diagnosed in a 24-year-old BC patient, occurring approximately 27 months after ART. 93 Some authors also hypothesized that the impact of TP53 mutations could be influenced by geographical factors and ethnicity, in which some specific germline mutations are transmitted.…”

Section: Tsgs Mutations Related Breast Cancer and Art Induced Second Primary Malignancies (Art-spms)mentioning

confidence: 99%

Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?

Lazzari

Buono²,

Zannino³

et al. 2021

BCTT

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BRCA1, BRCA2, TP53 and ATM gene mutations are the most studied tumour suppressor genes (TSGs) influencing the loco-regional approach to breast cancer (BC). Due to altered radio sensitivity of mutated cancer cells, mastectomy has always been advised in most patients with BC linked to TSGs mutations in order to avoid or minimize the use of adjuvant radiotherapy (ART). Whether ART is safe or not in these carriers is still debated. As a result, this issue has been widely discussed in the recent ASTRO and ASCO papers, yielding important and useful recommendations on the use of ART according to the mutational status. In this review, we have highlighted the impact of these mutations on local control, toxicities, second tumors, and contralateral breast cancers (CBCs) after ART to solve remaining doubts and encourage the safe use of ART when indicated.

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“…Adverse events of breast and chest wall radiation. As TP53 mutation increases susceptibility to radiation, adjuvant radiotherapy increases the risk of radiation-induced sarcomas in LFS patients [15][16][17].…”

Section: Breast Metachronous Carcinoma and Sarcoma In A Young Patientmentioning

confidence: 99%

Breast Metachronous Carcinoma and Sarcoma in a Young Patient Leading to the Diagnosis of Li-Fraumeni Syndrome

Sj¹,

Huber²

2019

Oncogen

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Breast cancer is the most frequently diagnosed malignancy and the leading cause of death in women [1]. A small portion of cases occur in young patients with 6.6% of all cases diagnosed below the age of 40 years, 2.6% below the age of 35 years and 0.65% below the age of 30 years [2]. Genetic and familial cancer syndromes are more prevalent in young patients compared to older counterparts. BRCA1 and BRCA2 mutations account for about 10% of all breast cancer cases in young women. Nevertheless, very early onset breast cancer might be the initial presentation of Li-Fraumeni syndrome (LFS). LFS is also known as sarcoma, breast, leukemia and adrenal gland (SBLA) cancer syndrome and is caused by the germline mutation of the TP53 gene, responsible for a wide spectrum of early-onset malignancies [3]. Its transmission is autosomal dominant with a prevalence of around 1/100000 in the general population and 1% of all breast cancers. Half of affected women will develop a cancer by the age 30 and the penetrance of the germline TP53 mutation reaches 100%. Breast cancer is the most common adult malignancy among patients with LFS [4]. Throughout this case report, we aim to illustrate clinical history and special considerations once the diagnosis of Li-Fraumeni syndrome is made. Case Description A 25-year-old primipara patient presented in May 2015 with a high grade invasive ductal carcinoma of the left breast (cT-2N1aM0). The hormonal receptors were positive, HER2/neu was amplified, and Ki-67 was expressed in 30% of tumor cells. She underwent anthracycline-based neoadjuvant chemotherapy with Trastuzumab and subsequently breast-conserving surgery with complete axillary lymph node dissection (ypT1bN0). The patient received adjuvant breast and axillary irradiation (64Gy), postoperative Trastuzumab and hormonal therapy by Tamoxifen and LHRH agonist. The patient's mother was diagnosed with breast cancer at age 44. Genetic testing for BRCA1 & 2 mutation was negative (Figure 1).

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

Cited by 9 publications

References 13 publications

Radiation-associated angiosarcoma after autologous breast reconstruction: report of two cases in a plastic surgery unit

Radiation-associated angiosarcoma after autologous breast reconstruction: report of two cases in a plastic surgery unit

Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?

Breast Metachronous Carcinoma and Sarcoma in a Young Patient Leading to the Diagnosis of Li-Fraumeni Syndrome

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