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.

scholarly journals PEComa in a Young Patient with Known Li-Fraumeni Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Kyriakos Neofytou ◽  
Simone Famularo ◽  
Aamir Z. Khan
Keyword(s):  
Risk Stratification ◽  
Tumour Suppressor Gene ◽  
Malignant Potential ◽  
Renal Lesion ◽  
Epithelioid Angiomyolipoma ◽  
Li Fraumeni Syndrome ◽  
Cancer Predisposition Syndrome ◽  
Rare Tumours ◽  
Li Fraumeni ◽  
The Right

Perivascular epithelioid cells neoplasms (PEComas) constitute a family of rare tumours which have been reported virtually in all anatomic sites. The histological clarification of the malignant potential of these tumours is still problematic despite the proposed risk stratification systems. Li-Fraumeni syndrome (LFS) is caused by a germline mutation in the TP53 tumour suppressor gene. It is a rare but well-characterized cancer predisposition syndrome leading to the development of a variety of different tumour types. To the best of our knowledge, an association between this syndrome and PEComas has not been previously documented. A 24-year-old lady with known LFS presented with two uncertain-in-nature lesions, one within the right part of the liver and one within the upper pole of the right kidney. The patient underwent an uncomplicated open simultaneous right partial nephrectomy and resection of segment 7 of the liver. The morphological and immunohistochemical features of both lesions were of epithelioid angiomyolipoma (PEComa). Although the obvious scenario was that the liver lesion was a metastasis from the renal lesion, the assessment of their malignant potential according to the existing risk stratification systems was rather in favour of two synchronous primary PEComas, pointing out that the histological assessment of malignant potential of PEComas is still problematic.

scholarly journals An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome

2021 ◽  
Vol 19 (1) ◽  
pp. 81-85
Author(s):  
Berrin Erok ◽  
◽  
Kenan Kıbıcı ◽  
Keyword(s):  
P53 Gene ◽  
Early Age ◽  
Past Medical History ◽  
Resonance Imaging ◽  
Rare Presentation ◽  
Orbital Mass ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.

scholarly journals Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

BMC Cancer ◽  
2012 ◽  
Vol 12 (1) ◽  
Author(s):  
Karin Kast ◽  
Mechthild Krause ◽  
Markus Schuler ◽  
Katrin Friedrich ◽  
Barbara Thamm ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Late Onset ◽  
Bilateral Breast Cancer ◽  
Review Of The Literature ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Li–Fraumeni-szindróma

2019 ◽  
Vol 160 (6) ◽  
pp. 228-234
Author(s):  
Anita Sejben ◽  
László Tiszlavicz ◽  
Kornélia Polyák ◽  
László Kovács ◽  
Anikó Maráz ◽  
...  
Keyword(s):  
Family History ◽  
Adjuvant Chemotherapy ◽  
Inflammatory Myofibroblastic Tumor ◽  
Malignant Tumors ◽  
Genetic Disorder ◽  
Li Fraumeni Syndrome ◽  
Cancer Types ◽  
Li Fraumeni ◽  
The Individual ◽  
The Right

Abstract: Li-Fraumeni syndrome is a rare genetic disorder predisposing the individual to multiple different cancer types, caused by a germline mutation of the TP53 or CHEK2 genes inherited in an autosomal dominant manner. We hereby describe the case of a family with Li–Fraumeni syndrome. An asymptomatic 40-year-old female was diagnosed with primary lung leiomyosarcoma (T3N0), adenocarcinoma (T1aN0), and inflammatory myofibroblastic tumor, which were surgically removed without further treatment. Twenty months later she underwent surgery for retroperitoneal liposarcoma and even though she received adjuvant chemotherapy, deceased shortly after. Due to family history, the patient underwent TP53 mutation testing, using peripheral blood genomic DNA, which identified a heterozygous, likely pathogenic missense mutation (c.722C>G p.Ser241Cys) in case of the mother and her son. Three years after the patient’s death, her 17-year-old son was diagnosed with a 3.5 cm osteosarcoma of the right second rib, which was surgically removed, followed by adjuvant chemotherapy. However, despite treatment, he deceased after two years. Throughout four generations of the patient’s family, 10 malignant tumors (stomach-, breast-, 2 lung-, and colon cancer, leukemia, leiomyosarcoma, liposarcoma and 2 osteosarcoma) were diagnosed with a mean age of 43.2 (13–70 years) years. The simultaneous appearance of primary lung leiomyosarcoma, inflammatory myofibroblastic tumor and adenocarcinoma in the same organ is extremely rare. When possible, surgical resection should be carried out. Genetic testing for TP53 is recommended when family history is suggestive of Li–Fraumeni syndrome. Prognosis remains poor. Orv Hetil. 2019; 160(6): 228–234.

Primary Orbital Liposarcoma in Li-Fraumeni Cancer Family Syndrome: A Case Report

2005 ◽  
Vol 91 (1) ◽  
pp. 96-100 ◽  
Author(s):  
Tito Poli ◽  
Francesco Laganà ◽  
Luigi Caradonna ◽  
Roberta Gobbi ◽  
Domenico Corradi ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Genetic Disorder ◽  
Molecular Profile ◽  
Prognostic Information ◽  
Upper Eyelid ◽  
Li Fraumeni Syndrome ◽  
Clinical Criteria ◽  
Li Fraumeni ◽  
Cellular Markers ◽  
The Right

Aims and background The aim of this study was to describe a case of primary orbital liposarcoma in Li-Fraumeni syndrome. Methods and study design In July 1998 a 20-year-old woman with a histological diagnosis of orbital myxoid liposarcoma underwent surgical treatment in our department. Since the patient's family pedigree met the clinical criteria for the diagnosis of LFS, molecular analysis was performed, which resulted in a molecular profile consistent with Li-Fraumeni syndrome. Results The patient underwent orbital exenteration extended to the upper eyelid; surgical reconstructive steps were performed to permit placement of an orbital prosthesis. Two years after primary surgery the patient underwent a quadrantectomy with lymphadenectomy of the right axilla because of the presence of a nodule of 1.5 cm in diameter in the upper-lateral quadrant of the right breast. One year after the last surgery, the patient is disease free. Conclusion The diagnosis of an orbital malignancy in a young patient with a family history of cancer should suggest the presence of an underlying genetic disorder like LFS; with molecular analysis we can now determine the genetic disorder and the exact location of the mutation, and also obtain important prognostic data using specific cellular markers. More prognostic information increases the chances of adequate personalized treatment.

scholarly journals The importance of cone-beam computed tomography for the diagnosis and treatment plan of florid cemento-osseous dysplasia: a case report

2021 ◽  
Vol 62 (2) ◽  
Author(s):  
Natállia Corrêa ◽  
◽  
Hary Silva ◽  
Cristine Amaral ◽  
Claudia Valle ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Cone Beam Computed Tomography ◽  
Root Resorption ◽  
Treatment Plan ◽  
Cone Beam ◽  
Central Incisor ◽  
Maxillary Central Incisor ◽  
Osseous Lesion ◽  
Osseous Dysplasia ◽  
The Right

Cone-beam computed tomography (CBCT) provides images without overlapping anatomical structures, which is important for the diagnosis and assessment of florid cemento-osseous dysplasia. This fibro-osseous lesion that affects the alveolar process without compromising the teeth’ pulp vitality is usually asymptomatic, and bone expansion, cortical disruption, and root resorption are uncommon. Due to its avascular characteristic, surgical procedures are often contraindicated. In this case, a 59-year-old female patient presented with a complaint of pain in the right maxillary central incisor. Panoramic and periapical radiographs showed florid cemento-osseous dysplasia in some regions. The right maxillary central incisor showed an extensive radiolucent image suggestive of root resorption but without fibro- -osseous lesion. For better evaluation and implant planning, CBCT was performed and demonstrated florid cemento-osseous dysplasia adjacent to the right maxillary central incisor, contraindicating implant placement. In other regions, CBCT enabled the identification of the expansive features of this fibro-osseous lesion.

scholarly journals Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome

2021 ◽  
Vol 12 ◽  
pp. 99
Author(s):  
Christopher S. Hong ◽  
E. Zeynep Erson-Omay ◽  
Jennifer Moliterno
Keyword(s):  
Right Hemisphere ◽  
Neurofibromatosis Type ◽  
World Health ◽  
Li Fraumeni Syndrome ◽  
Multiple Meningiomas ◽  
Radiation History ◽  
Li Fraumeni ◽  
Health Organization ◽  
The Right ◽  
Time Of Presentation

Background: While meningiomas are some of the most common intracranial tumors, the presence of multiple ones at the time of presentation is rare and can most commonly be observed in patients with well-described syndromes (i.e., neurofibromatosis type 2) or those with prior cranial radiation history. In others, however, the pathophysiology remains unclear. Case Description: A 49-year-old female with no significant personal or familial oncologic medical history presented with a generalized seizure and was found to have ten meningiomas arising within the right hemisphere. She underwent a two-staged resection of all tumors, with pathology revealing the World Health Organization Grade I meningioma. Whole-exome sequencing revealed somatic NF2 mutations and heterozygous deletion of chromosome 22 overlapping with NF2, and analysis of the germline uncovered mutations of TP53, rendering a diagnosis of Li-Fraumeni Syndrome. Conclusions: This case represents a novel presentation of multiple meningiomas in a patient with newly diagnosed Li-Fraumeni syndrome, suggesting meningioma may be considered as part of this tumor-predisposed patient population.

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 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.

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