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

2014 ◽  
Vol 133 (2) ◽  
pp. 151-153 ◽  
Author(s):  
Oséias Vargas Barbosa ◽  
André Borba Reiriz ◽  
Ricardo Antônio Boff ◽  
Willian Passos Oliveira ◽  
Luiza Rossi
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Ductal Carcinoma ◽  
Epithelioid Angiosarcoma ◽  
Li Fraumeni Syndrome ◽  
Increased Risk ◽  
Li Fraumeni ◽  
The Right ◽  
Surgical Treatments ◽  
Autosomal Dominant Inheritance Pattern

CONTEXT: Li-Fraumeni syndrome is a rare disease with an autosomal dominant inheritance pattern and high penetrance that defines a 50% chance of developing cancer before the age of 30 years, including cases of breast sarcoma. Patients with this syndrome who require radiotherapy have an increased risk of developing secondary malignancies including angiosarcomas. CASE REPORT: This was a case report on a female patient with Li-Fraumeni syndrome. In October 2005, she was diagnosed with invasive ductal carcinoma of the right breast and underwent sectorectomy. She then received chemotherapy and adjuvant radiotherapy. Trastuzumab and tamoxifen were also part of the treatment. She recently sought care at our hospital, complaining of hyperemia and nodulation in the right breast, and underwent surgical resection that revealed epithelioid angiosarcoma. CONCLUSIONS: When genetic predisposition due to Li-Fraumeni syndrome is documented, the therapy should be adapted so as to minimize the risk. Thus, conservative surgical treatments should be avoided and mastectomy without radiation should be prioritized. In cases in which use of radiotherapy is justified, patients should be followed up intensively.

scholarly journals Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Paduano ◽  
Fernanda Fabiani ◽  
Emma Colao ◽  
Francesco Trapasso ◽  
Nicola Perrotti ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Liver Carcinoma ◽  
The Novel ◽  
Li Fraumeni Syndrome ◽  
Pathogenic Variants ◽  
Family Pedigree ◽  
The Family ◽  
Dominant Disease ◽  
Li Fraumeni

Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.

scholarly journals Li-fraumeni syndrome: A case report

2014 ◽  
Vol 71 (12) ◽  
pp. 1159-1162 ◽  
Author(s):  
Miroslav Ilic ◽  
Kiralj Aleksandar ◽  
Borislav Markov ◽  
Ivana Mijatov ◽  
Sasa Mijatov ◽  
...  
Keyword(s):  
Case Report ◽  
Ductal Carcinoma ◽  
Malignant Tumors ◽  
P53 Gene ◽  
Careful Examination ◽  
Adrenal Tumors ◽  
First Year ◽  
Li Fraumeni Syndrome ◽  
Clinical Criteria ◽  
Li Fraumeni

Introduction. Li-Fraumeni syndrome (LFS) is a very rare familial disease with the predisposition to the development of malignant tumors, such as osteosarcoma, breast cancer, brain neoplasm, leukemia, and adrenal tumors. Inheritance is autosomal dominant and is caused by heterozygous mutations in the p53 gene. The diagnosis is based on clinical criteria: a person under the age of 45 years suffering from sarcoma, the closest relative younger than 45 years diagnosed with cancer and a relative of the first or second degree, which is up to 45 years, was diagnosed with cancer and was diagnosed with sarcoma at any age. Case report. The presented family with three members diagnosed with malignant disease typical for LFS suggests the need to carefully follow those diagnosed with LFS related tumor. A 24-yearold man diagnosed and treated for osteosarcoma of the maxilla died in the first year. His younger brother was submitted to surgery due to osteosarcoma of the mandible three years later, and a year later in his 24 year he had no signs of locoregional recurrence. Their mother was operated in 1996 for glioblastoma multiform brain cancer and ductal carcinoma, and died two years later at the age of 33. Conclusion. The presented family highlights the need for careful examination, inspection and notification of the risks of family members diagnosed with LFS related tumors.

scholarly journals Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report

2020 ◽  
Vol 28 (1) ◽  
pp. 226-232
Author(s):  
Suraya Bondy ◽  
Camilla Tajzler ◽  
Sebastien J. Hotte ◽  
Anil Kapoor ◽  
Kevin Zbuk ◽  
...  
Keyword(s):  
Adrenocortical Carcinoma ◽  
Ductal Carcinoma ◽  
Disease Recurrence ◽  
Tumour Suppressor Gene ◽  
Bilateral Mastectomy ◽  
Tissue Samples ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
The Right

Li-Fraumeni Syndrome (LFS) is defined by germline mutations of the p53 tumour suppressor gene. Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that is commonly associated with LFS. Most LFS-linked ACC cases occur in children, and limited research has been dedicated to the clinical outcomes and genomics of adult cases with LFS-linked ACC. We report on a 34-year-old female who was diagnosed with three separate malignancies: stage III invasive ductal carcinoma of the right breast, metastatic ACC from the right adrenal gland, and grade 2 pleomorphic sarcoma of the left hand. Her invasive breast ductal carcinoma was treated with neoadjuvant chemotherapy, and she received a bilateral mastectomy after her LFS was confirmed with genetic blood testing. Adrenal ACC was initially treated with a right nephrectomy and adrenalectomy, followed by adjuvant mitotane and two lines of chemotherapy after disease recurrence. Her hand sarcoma was treated by second ray amputation. Further, we conducted deep next-generation sequencing of each of her unique tumour tissue samples using FoundationONE CDx. A whole-genome shot capture followed by in vitro sequencing performed by the Illumina® HiSeq platform revealed a germline P191fs*18 TP53 mutation across all three tissue samples. This case provides insight into the genomics and clinical characteristics of LFS-linked adult-onset ACC and demonstrated that p53 mutations were preserved throughout each malignancy, without apparent treatment pressures on genomic profiling. This case reinforces the critical importance of adopting best practices for LFS, which include the implementation of highly vigilant screening and management of care in a multidisciplinary setting.

Li-Fraumeni syndrome and adrenal tumours: case report

2018 ◽  
Author(s):  
Mariana Tome ◽  
Jessica Guarino ◽  
Marta Iturregui
Keyword(s):  
Case Report ◽  
Li Fraumeni Syndrome ◽  
Adrenal Tumours ◽  
Li Fraumeni

Neuroradiology Manifestations of Li-Fraumeni Syndrome: Epidemiology, Genetics, Imaging Findings, and Management

Neurographics ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 228-235
Author(s):  
S. Naganawa ◽  
T. Donohue ◽  
A. Capizzano ◽  
Y. Ota ◽  
J. Kim ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Soft Tissue Sarcomas ◽  
Suppressor Gene ◽  
Imaging Findings ◽  
Li Fraumeni Syndrome ◽  
Increased Risk ◽  
Li Fraumeni ◽  
Risk Of Cancer

Li-Fraumeni syndrome is a familial cancer predisposition syndrome associated with germline mutation of the tumor suppressor gene 53, which encodes the tumor suppressor p53 protein. Affected patients are predisposed to an increased risk of cancer development, including soft-tissue sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma, among other malignancies. The tumor suppressor gene TP53 plays an important, complex role in regulating the cell cycle, collaborating with transcription factors and other proteins. The disruption of appropriate cell cycle regulation by mutated TP53 is considered to be the cause of tumorigenesis in Li-Fraumeni syndrome. Appropriate surveillance, predominantly by using MR imaging, is used for early malignancy screening in an effort to improve the survival rate among individuals who are affected. Patients with Li-Fraumeni syndrome are also at increased risk for neoplasm development after radiation exposure, and, therefore, avoiding unnecessary radiation in both the diagnostic and therapeutic settings is paramount. Here, we review the epidemiology, genetics, imaging findings, and the current standard surveillance protocol for Li-Fraumeni syndrome from the National Comprehensive Cancer Network as well as potential treatment options.Learning Objective: Describe the cause of second primary malignancy among patients with Li-Fraumeni syndrome.

Saddle pulmonary embolism with fluorouracil: A case report

2020 ◽  
Vol 26 (7) ◽  
pp. 1769-1773
Author(s):  
Kylee E White ◽  
Christopher T Elder
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Case Report ◽  
Single Agent ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Additive Risk ◽  
The Right ◽  
Deep Vein ◽  
To Receive

Introduction As a single agent, fluorouracil has been documented to have a small but present chance of causing extravasation of the port when not properly administered. It has also been shown that cancer patients receiving chemotherapy are at increased risk of deep vein thrombosis, symptomatic or silent. Case report A 43-year-old male patient with stage III colon cancer receiving FOLFOX developed a saddle pulmonary embolism involving possible extravasation that was discovered following cycle 3 of chemotherapy. CT scan and lower extremity Doppler confirmed non-occlusive deep vein thrombosis along with saddle pulmonary embolism. Management and outcome: For acute management, patient underwent bilateral pulmonary artery thrombolysis. Following this, the patient was initiated on rivaroxaban indefinitely. The right subclavian port was removed, and a new port was placed in the left subclavian. Patient went on to receive three more cycles of chemotherapy. Discussion Fluorouracil, an inflammitant, has been shown to have damaging potential, especially in terms of the integrity of the endothelium. Over time, this can lead to serious complications such as cardiotoxicity, including deep vein thrombosis formation. Based on how and when the thrombi were discovered, it is not possible to deduce whether the port, the 5-FU, extravasation or other factors were the precipitators of the formation of the thrombi. The combination of chemotherapy treatment along with CVC placement appears to have an additive risk to the formation of a thrombus. Practitioners should take caution when evaluating for extravasation and CVC integrity and note other potential differentials for causes, including deep vein thrombosis/saddle pulmonary embolism formation.

scholarly journals Osteosarcoma of the Mandible in a Patient with Florid Cemento-Osseous Dysplasia and Li–Fraumeni Syndrome: A Rare Coincidence

2020 ◽  
Author(s):  
Simon Haefliger ◽  
Dorothee Harder ◽  
Michal Kovac ◽  
Karin Linkeschova ◽  
Harald Eufinger ◽  
...  
Keyword(s):  
Root Resorption ◽  
Bilateral Breast Cancer ◽  
Li Fraumeni Syndrome ◽  
Osseous Dysplasia ◽  
Left Posterior ◽  
Bone Biopsies ◽  
Li Fraumeni ◽  
Causative Relation ◽  
High Grade Osteosarcoma ◽  
The Right

Abstract Cemento-osseous dysplasia (COD) is the most common benign fibro-osseous lesion of the jaws and generally considered non-neoplastic and self-limited. Here, we present a 30-year old female who noticed a bilateral swelling of her posterior mandible with irregular periapical mineralization and incomplete root resorption on panoramic radiographs. A biopsy revealed florid COD and no further treatment was initiated. 9 years later, she presented with a progressive expansion of her left posterior mandible after being treated for bilateral breast cancer 4 and 8 years before. CT scans showed expansile and densely mineralized lesions in all four quadrants with the left posterior mandible showing a focal penetration of the buccal cortical bone. Biopsies revealed an osteoblastic high-grade osteosarcoma in the left and a COD in the right mandible, notably with cellular atypia in the spindle cell component. The patient underwent segmental resection of the left mandible with clear margins and adjuvant chemotherapy. Subsequent genetic testing identified a heterozygous germline TP53 mutation (p.V173G) which confirmed the clinically suspected Li–Fraumeni syndrome (LFS). 3 years after the resection, the patient is free of disease and the other foci of COD remained stable in size on follow-up imaging analyses. Our case illustrates LFS-related osteosarcoma developing within florid COD. Given the rarity of this coincidence, a causative relation between the two lesions seems unlikely but in patients with tumor predisposition syndromes it might be advisable to closely monitor even benign lesions like COD.

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