Fourth Primary Malignant Tumor in a Patient with Possible Li-Fraumeni Syndrome: Synchronous Diagnosis of Postirradiation Sarcoma, Cutaneous Relapse of a Previous Soft Tissue Sarcoma, and Lung Adenocarcinoma

Yumrukçal, Feridun; Dirik, Yalin; Çınar, Arda; Eralp, Levent

doi:10.1155/2014/597207

Cited by 2 publications

(2 citation statements)

References 13 publications

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“…In the majority of cases, these tumors are metachronous and often related to radiotherapy administered to previous tumors [4,5]. Here we have presented the case of a young female patient with LFS who does not fit the typical description of these patients.…”

Section: Discussion/conclusionmentioning

confidence: 94%

“…In 1990, two independent studies reported that germline mutations in TP53, a tumor suppressor gene, were the primary factor involved in the development of LFS [2,3]. TP53 mutations have been associated with resistance to treatment in some case reports and these patients are more likely to develop radiation-induced secondary malignancies [4,5], which complicates disease management. The participation of a multidisciplinary team is crucial in determining the optimal course of treatment for these patients.…”

Section: Introductionmentioning

confidence: 99%

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Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management

et al. 2020

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Germline mutations in TP53, a tumor suppressor gene, are involved in the development of Li-Fraumeni syndrome, a rare disorder that predisposes carriers to multiple tumors. TP53 mutations have been associated with resistance to treatment and poor prognosis. A young female with the pathogenic germline TP53 mutation c.844C > T (p.R282W) was diagnosed with two metachronous breast tumors, one HER2-negative and the other HER2-positive. She was later diagnosed with synchronous glioblastoma, epidermal growth factor receptor-mutated lung adenocarcinoma, and HER2-negative breast cancer metastases. The patient was treated with local therapies, including brain surgery and radiotherapy, lung surgery, and a bilateral mastectomy, as well as with targeted systemic treatment. She proved to be highly sensitive to systemic therapy, and 13 years after the initial diagnosis of breast cancer and 6 years after the diagnosis of the two new primary tumors and recurrence of a prior cancer, she is alive with an excellent performance status. This surprising positive evolution may well be partly due to the pronged multidisciplinary approach to managing her disease and her extraordinary response to treatment: the lung adenocarcinoma showed excellent response to erlotinib; the breast cancer responded extremely well to eribulin and pegylated liposomal doxorubicin; and the glioblastoma has remained in response to surgery and radiotherapy. Despite harboring a TP53 mutation and having multiple tumors, this patient has shown an unexpectedly favorable evolution. The coordinated participation of a multidisciplinary team and the patient's own extraordinarily high sensitivity to systemic treatment played a major role in this evolution.

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Section: Discussion/conclusionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management

et al. 2020

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Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies

Cenci,

Pace

2024

World J Clin Cases

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Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition syndrome characterized by a heightened risk of developing various malignancies at an early age. Emerging evidence suggests a correlation between LFS and orthopedic manifestations, underscoring the importance of orthopedic screening in individuals with this syndrome. Pediatric cancer is rare. It is estimated that more than 10%-15% of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. LFS is one of those who have been most widely described. Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge enables the establishment of a follow-up protocol for the patient and affected family members, facilitating early detection of new tumors and reducing tumor and treatment-related morbidity and mortality. The primary objective of this invited editorial article is to provide a thorough review of the existing knowledge of LFS and its polymorphic spectrum of related malignancies, with a focus on aspects directly linked to orthopedic manifestations. Another objective is to offer an update on the most modern prevention, treatment and follow up guidelines that could be useful for the physicians dealing with this cohort of patients.

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Fourth Primary Malignant Tumor in a Patient with Possible Li-Fraumeni Syndrome: Synchronous Diagnosis of Postirradiation Sarcoma, Cutaneous Relapse of a Previous Soft Tissue Sarcoma, and Lung Adenocarcinoma

Cited by 2 publications

References 13 publications

Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management

Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management

Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies

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