A study with the participation of IDOR analyzes genetic syndrome as a prognostic factor for breast cancer

Patients with Li-Fraumeni Syndrome had a higher risk of disease recurrence

A study with the participation of IDOR analyzes genetic syndrome as a prognostic factor for breast cancer

Patients with Li-Fraumeni Syndrome had a higher risk of disease recurrence

A study led by Brazilian researchers has just have published in the scientific journal The Breast. The research, which had the participation of the D’Or Institute for Research and Education (IDOR), the Cancer Institute of the State of São Paulo (ICESP), the University of São Paulo (USP), and Osvaldo Cruz Hospital, evaluated the behavior of cancer breast cancer in patients with a hereditary disease, Li-Fraumeni Syndrome, which is associated with a high risk of developing tumors. 

Li-Fraumeni Syndrome occurs due to an alteration in the TP53 gene, a tumor suppressor gene. Recognized as the “guardian of the genome” the function of this gene is to guarantee the proper functioning of cell division and prevent the appearance of tumors due to errors accumulated during cell division. With this impaired function, the appearance of breast, brain, lung, and adrenal tumors, in addition to sarcomas and leukemias is favored. Among patients with the disease, 85% develop breast cancer by age 60. 

Doctor Maria Del Pilar Estevez Diz, study coordinator, an oncologist at Rede D’Or, Hospital São Luiz do Itaim and Onco Star, and a researcher at IDOR clarifies the parameters used to detect Li-Fraumeni Syndrome in patients with breast cancer. “We use two sets of criteria to indicate a genetic testing diagnosis of Li-Fraumeni syndrome can only be confirmed by genetic testing.
1. Classic criteria
– the combination of individual diagnosis of sarcoma <45 years of age and – first-degree relative diagnosed with cancer > 45 years of age and
– a first- or second-degree relative with diagnosed cancer <45 years, or a sarcoma at any age
2. Chompret criteria to indicate genetic testing
– an individual with multiple tumors (except breast), two of which belong to the spectrum of FFS with the first of them occurring before the age of 46 years or
– an individual with adrenocortical carcinoma or choroid plexus carcinoma, or anaplastic embryonal rhabdomyosarcoma at any age regardless of family history or
– breast cancer before age 31.”

In addition to the greater risk of developing different types of cancer, the syndrome also requires different therapeutic approaches, given that studies have already shown that radiotherapy use in this group can determine the appearance of new tumors (secondary neoplasms). Therefore, recognition of the condition must precede the choice of therapies. 

Considering the need for more knowledge about the disease, the evolution of 41 patients with Li-Fraumeni Syndrome and breast cancer were analyzed, compared with 82 women in the control group, who also had breast cancer, but without the hereditary condition. Patients with the syndrome were followed up by the Hereditary Tumors Group at ICESP from 1999 to 2022. 

The researchers observed that 78% of patients with the syndrome had tumors that were estrogen receptor-positive, 65.8% progesterone receptor positive, and 39% overexpressed the HER2 receptor on their surface (Human Epidermal Growth Factor Receptor 2), elements used to characterize the type of breast cancer of each patient. In the control group, this frequency was 76%, 65.8 and 26.8%, respectively. 

The proportion of patients who received neoadjuvant treatment (administered before surgery) was similar in both groups of patients, with 33.3% of patients with the syndrome achieving a complete pathological response to treatment, confirmed after surgery, which was observed in 36.7% of patients in the control group. 

All HER2-positive patients received specific trastuzumab therapy before and/or after surgery. After an average follow-up of 51 months in the group of patients with the Syndrome and 41 months in the control group, disease recurrence was observed in 14.6% of the patients with the Syndrome, which was observed in only 6.1% among patients in the control group, a difference that was not statistically significant. 

Exploratory analyzes of the data did not reveal any impact of radiotherapy on recurrence-free survival. The authors conclude that, despite the recognized increased risk of developing a second neoplasm, no difference was observed in the progression-free survival of the disease in the two groups of patients. 


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