Her2-positive breast cancer in a young patient with Li-Fraumeni syndrome - A comprehensive case study

Sep 21, 2026

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Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by TP53 mutations and confers a markedly increased early-onset cancer risk. This case report describes a 21-year-old woman with Grade 3 invasive ductal carcinoma that was low ER positive, PR negative, and Her2 3+ with high Ki67. TP53 mutation was confirmed; neoadjuvant TCHP achieved complete clinical response, followed by skin- and nipple-sparing mastectomy with sentinel lymph node biopsy and reconstruction, with pathology confirming complete response. Ongoing care includes planned trastuzumab/pertuzumab cycles, cardiac monitoring, fertility preservation, and rigorous surveillance plus psychosocial support.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages8

Reading Time20 min

AccessFree to download

Introduction

Genetic basis and inheritance of Li-Fraumeni syndrome

Cancer risk spectrum and role of TP53

Genetic testing criteria and clinical implications

Case report overview (from Abstract)

International Journal of Surgery Case Reports 124 (2024) 110323 Contents lists available at ScienceDirect International Journal of Surgery Case Reports journal [homepage:](homepage: www.elsevier.com/locate/ijscr)[ www.elsevier.com/locate/ijscr](homepage: www.elsevier.com/locate/ijscr) | Case report
Her2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study
Mena Louisa,1, Jerrell Fanga, Nathaniel Grabill a,*, Hardeep Singh b, Priscilla Strom c
a Northeast Georgia Medical Center, General Surgery GME Program, United States of America
b Northeast Georgia Medical Center, Graduate Medical Education, Research Department, United States of America c Longstreet Clinic, Breast Surgery, United States of America | | | | --- | --- | --- | | A R T I C L E I N F O | | A B S T R A C T | | Keywords:
Li Fraumeni syndrome TP53 protein
Breast neoplasm Genetic screening Neoadjuvant therapy Case study | | Introduction and importance: Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the TP53 gene, leading to a significantly increased risk of developing various cancers at a young age, including breast cancer.
Clinical presentation: This case report details the clinical journey of a 21-year-old female diagnosed with Grade 3 invasive ductal carcinoma, which was estrogen receptor low positive and progesterone receptor negative but positive for Her2 (3+) with a high Ki67 proliferation index.
Clinical discussion: Genetic testing confirmed a TP53 mutation, establishing the diagnosis of LFS. The patient underwent neoadjuvant chemotherapy with TCHP (docetaxel, carboplatin, trastuzumab, pertuzumab), resulting in a complete clinical response. This was followed by bilateral skin-sparing and nipple-sparing mastectomy with sentinel lymph node biopsy and immediate reconstruction. Postoperative pathology confirmed a complete response to neoadjuvant therapy. The patient’s treatment plan includes 12 cycles of trastuzumab and pertuzumab, with regular echocardiograms to monitor cardiac function and fertility preservation strategies involving monthly Lupron injections. Given the association of LFS with a high risk of multiple primary cancers, a rigorous surveillance strategy is essential. The psychological impact of a cancer diagnosis and the burden of living with a hereditary cancer syndrome were significant, necessitating comprehensive psychosocial support.
Conclusion: Managing Li-Fraumeni syndrome (LFS) and its associated cancers, particularly in young patients, necessitates a comprehensive and multidisciplinary approach. Early genetic testing for TP53 mutations is crucial in identifying LFS, enabling personalized treatment plans and proactive surveillance strategies. | 1. Introduction Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition disorder characterized by mutations in the TP53 gene, affecting an estimated 1 in 3500 to 1 in 5500 people [1,2]. Although it is typically inherited in an autosomal dominant manner, an estimated 7–20 % of patients with LFS result from de novo variants [3]. This genetic anomaly significantly elevates the risk of developing a spectrum of cancers, often at a young age [4]. First identified in 1969 by Drs. Frederick Li and Joseph Fraumeni [5]. LFS has since been a focal point for understanding the genetic underpinnings of cancer susceptibility [6]. Individuals with LFS face an increased lifetime risk of various cancers, including breast cancer, sarcomas, brain tumors, and leukemias, among numerous others [1]. The TP53 gene mutation impairs the function of the p53 protein, a crucial tumor suppressor involved in regulating cell division and apoptosis [7]. The discovery of LFS has revolutionized the approach to genetic screening and personalized medicine, particularly in young patients who develop cancers typically seen in older populations [8]. Genetic testing is critical in identifying LFS, allowing for

FAQs

What genetic finding confirms Li-Fraumeni syndrome in this case?

Genetic testing confirmed a TP53 mutation, establishing the diagnosis of Li-Fraumeni syndrome.

What treatment was used before surgery, and what was the response?

The patient received neoadjuvant chemotherapy with TCHP (docetaxel, carboplatin, trastuzumab, pertuzumab), resulting in a complete clinical response; postoperative pathology also confirmed a complete response.

How does the care plan address long-term risks in LFS?

Because LFS is associated with high risk of multiple primary cancers, the plan includes rigorous surveillance, ongoing anti-Her2 therapy cycles, regular echocardiograms for cardiac function, and fertility preservation strategies, alongside psychosocial support.

Sep 21, 2026

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