Dados do Trabalho

Título

LI-FRAUMENI SYNDROME AND BREAST CANCER: REPORT OF DIAGNOSIS AND EVOLUTION IN THE CASE OF A YOUNG ADULT PATIENT

Apresentação do caso

The patient is a 40-year-old female. In July of 2019 she complained of a lump she had had in her left breast for 07 months. She reported left adrenalectomy at 9 months of age for adenoma treatment and a family history of bowel cancer.
In the physical examination, she had a palpable tumor (4.0x3.5cm) in the inferomedial quadrant, close to the inframammary fold in the left breast and axilla with two hardened ganglia. Biopsy showed invasive carcinoma, G2, luminal-HER. Screening tests did not show metastatic disease. Genetic research showed a mutation in the TP53 gene.
Neoadjuvant treatment was initiated and the reassessment showed good clinical response. She underwent bilateral adenomastectomy with biopsy of left sentinel lymph node and got immediate reconstruction surgery with a prosthesis, being operated on March 19th, 2020.
The histopathological report showed absence of breast cancer and presence of residual carcinoma in the sentinel lymph node. Axillary lymphadenectomy was performed in the second stage and adjuvant therapy was initiated.
In the follow-up, after one year, she presented skin necrosis and exposure of the prosthesis on the left, which was removed, and the expander was positioned. Biopsy showed breast cancer recurrence and the chemotherapy regimen was readjusted.
Restaging was performed, which showed local recurrence and bone metastases. At the present moment, she is still undergoing a palliative chemotherapy regimen and in an outpatient clinic for pain control.

Discussão

Li-Fraumeni Syndrome causes a hereditary predisposition to cancer. It is rare and is associated with approximately 1% of breast cancer cases.
Cancer management of this syndrome runs as usual, except for breast cancer, for which bilateral mastectomy is recommended to reduce the risk of a second primary tumor and to avoid radiotherapy. Concerns about the risk of radiation-induced second primary tumors lead to more cautious use of radiation therapy. Prophylactic bilateral mastectomy to reduce the risk of breast cancer is an option for women with this syndrome.

Comentários Finais

It is important for the attending physician to be alert for signs indicative of familial syndromes during examination, in order to request the search for mutations and also to individualize treatment planning according to each case. Family screening is also indicated.

Palavras-chave

LI-FRAUMENI SYNDROME / BREAST CANCER / ADENOMASTECTOMY

Cirauqui B, Morán T, Estival A, Quiroga V, Etxaniz O, Balana C, Navarro M, Villà S, Ballester R, Margelí M: Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management. Case Rep Oncol 2020;13:130-138. doi: 10.1159/000505684

Guha T, Malkin D. Inherited TP53 Mutations and the Li-Fraumeni Syndrome. Cold Spring Harb Perspect Med. 2017;7(4):a026187. Published 2017 Apr 3. doi:10.1101/cshperspect.a026187

P. Hendrickson, Y. Luo, W. Kohlmann, J. Schiffman, K.E. Kokeny, M.M. Poppe, D.K. Gaffney, R. Tao. Should Radiation Therapy be Avoided in Breast Cancer Patients with Li-Fraumeni Syndrome?. International Journal of Radiation Oncology*Biology*Physics, Volume 105, Issue 1, Supplement, 2019, Page E55, ISSN 0360-3016.

Schneider K, Zelley K, Nichols KE, Garber J. Li-Fraumeni Syndrome. 1999 Jan 19 [updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301488.

Área

Oncomastologia