scholarly journals Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Eduardo Ventura ◽  
Sílvia Dionísio ◽  
Ângela Ferreira ◽  
Rute Saleiro ◽  
Hugo Marques ◽  
...  
Keyword(s):  
Family History ◽  
Adjuvant Chemotherapy ◽  
Uterine Cancer ◽  
Surgical Excision ◽  
Cancer Predisposition ◽  
Mesenchymal Chondrosarcoma ◽  
Li Fraumeni Syndrome ◽  
Cancer Predisposition Syndrome ◽  
History Of ◽  
Li Fraumeni

Abstract Mesenchymal chondrosarcoma (MCS) is a rare histological variant of chondrosarcoma, with aggressive behaviour. Due to the unique nature of this disease, management strategies are not well established. Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome with a wide tumour spectrum, associated with TP53 germline mutations. We report a case of MCS of the maxilla, treated with surgical excision and adjuvant chemotherapy, in a patient with a past medical history of choroid plexus papilloma and a family history of early age first-degree cervical uterine cancer, that led to the clinical suspicion of a cancer predisposition syndrome and the subsequent diagnosis of LFS. This is the first MCS described in a LFS case. It demonstrates that adjuvant chemotherapy should be considered, in conjunction with surgical excision, in MCS and that cancer predisposition syndromes should be suspected in patients with multiple neoplasms and a strong family history of cancer.

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.

scholarly journals Using family history forms in pediatric oncology to identify patients for genetic assessment

2017 ◽  
Vol 24 (6) ◽  
pp. 441 ◽  
Author(s):  
A. Hamilton ◽  
E. Smith ◽  
J. Hamon ◽  
E. Tomiak ◽  
M. Bassal ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Pediatric Oncology ◽  
Small Sample ◽  
Cancer Predisposition ◽  
Candidate Gene Approach ◽  
Inherited Cancer ◽  
Cancer Predisposition Syndrome ◽  
Pediatric Cancer Patients ◽  
History Of

Objective We set out to identify and offer genetic testing to the 5%–10% of pediatric cancer patients who have been estimated to carry germline mutations in inherited cancer predisposition syndromes. Clinical genetic testing has become widely available, and thus in busy oncology clinics, tools are needed to identify patients who could benefit from a referral to genetics.Methods We studied the clinical utility of administering a family history form in the pediatric oncology long-term follow-up clinic to identify patients who might have an inherited cancer predisposition syndrome. Genetic testing involved primarily Sanger sequencing in clia (Clinical Laboratory Improvement Amendments)–certified laboratories.Results Of 57 patients who completed forms, 19 (33.3%) met criteria for referral to genetics. A significant family history of cancer was present for 4 patients, and 12 patients underwent genetic testing. Of 18 genetic tests ordered, none identified a pathogenic mutation, likely because of a small sample size and a candidate-gene approach to testing. Three families were also identified for further assessment based on a family history of breast cancer, with two of families having members eligible for BRCA1 and BRCA2 testing.Conclusions Genetic testing in pediatric oncology patients is important to guide the management of patients who have an inherited cancer predisposition syndrome and to identify other family members at risk when mutations are identified. When no mutations are identified, that information is often reassuring to families who are worried about siblings. However, in the absence of an identified genetic cause in a patient, some uncertainty remains.

scholarly journals Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

2020 ◽  
Author(s):  
Linxiang Zhang ◽  
Jijie Yan ◽  
Guangjian Bai ◽  
Yiwei Hu ◽  
Lijun Jiang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Male Patient ◽  
Secondary Cancer ◽  
Li Fraumeni Syndrome ◽  
Pleomorphic Sarcoma ◽  
History Of ◽  
Aggressive Tumor ◽  
Li Fraumeni ◽  
History Of Cancer

Abstract Background Undifferentiated pleomorphic sarcoma (UPS) is an aggressive tumor that rarely occurs in the spine. We present a 38-year-old male patient with Li-Fraumeni syndrome and discuss the treatment and prognosis.Case presentation A 38-year-old male patient presented with bilateral lower extremity weakness accompanied by radiation pain. He had been diagnosed with right adrenal cortical carcinoma previously and had a strong family history of cancer. PET/CT indicated increased uptake in many parts of the body, especially the right adrenal gland, the left occipital lobe, and the L4 vertebral body (VB). MRI also revealed the destruction of the L4 vertebral body and a paraspinal soft-tissue mass. The tumor was completely resected and pathological findings revealed UPS. Subsequent genetic testing revealed a mutation in the TP53 gene, which is consistent with Li-Fraumeni syndrome (LFS). The patient received postoperative adjuvant radiotherapy and did not develop local recurrence, metastasis, or secondary cancer during the 31-month follow-up.Conclusions Spinal UPS is a rare aggressive tumor with a poor prognosis. Surgery alone can improve the survival of patients but cannot effectively control the disease. In spinal UPS patients with LFS, we think that the prognostic benefits of postoperative adjuvant therapy outweigh the risks of long-term secondary cancer. Family history of cancer and genetic testing can help diagnose LFS, and MRI of the spine can aid the early detection of microlesions. For these patients, early diagnosis and intervention can effectively improve survival.

scholarly journals Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness

2020 ◽  
Author(s):  
Leann A Lovejoy ◽  
Clesson E Turner ◽  
Craig D Shriver ◽  
Rachel E Ellsworth
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Predisposition ◽  
Clinical Genetic ◽  
High Risk Women ◽  
Clinical Genetic Testing ◽  
Pathogenic Mutations ◽  
History Of ◽  
Risk Reducing

Abstract Background The majority of active duty service women (ADS) are young, have access to healthcare, and meet fitness standards set by the U.S. military, suggesting that ADS represent a healthy population at low risk of cancer. Breast cancer is, however, the most common cancer in ADS and may have a significant effect on troop readiness with lengthy absence during treatment and inability to return to duty after the treatment. The identification of unaffected ADS who carry germline mutations in cancer predisposition genes (“previvors”) would provide the opportunity to prevent or detect cancer at an early stage, thus minimizing effects on troop readiness. In this study, we determined (1) how many high-risk ADS without cancer pursued genetic testing, (2) how many previvors employed risk-reducing strategies, and (3) the number of undiagnosed previvors within an ADS population. Methods The Clinical Breast Care Project (protocol WRNMMC IRB #20704) database of the Murtha Cancer Center/Walter Reed National Military Medical Center was queried to identify all ADS with no current or previous history of cancer. Classification as high genetic risk was calculated using National Comprehensive Cancer Network 2019 guidelines for genetic testing for breast, ovary, colon, and gastric cancer. The history of clinical genetic testing and risk-reducing strategies was extracted from the database. Genomic DNA from ADS with blood specimens available for research purposes were subjected to next-generation sequencing technologies using a cancer predisposition gene panel. Results Of the 336 cancer-free ADS enrolled in the Clinical Breast Care Project, 77 had a family history that met National Comprehensive Cancer Network criteria for genetic testing for BRCA1/2 and 2 had a family history of colon cancer meeting the criteria for genetic testing for Lynch syndrome. Of the 28 (35%) high-risk women who underwent clinical genetic testing, 11 had pathogenic mutations in the breast cancer genes BRCA1 (n = 5), BRCA2 (n = 5), or CHEK2 (n = 1). Five of the six ADS who had a relative with a known pathogenic mutation were carriers of the tested mutation. All of the women who had pathogenic mutations detected through clinical genetic testing underwent prophylactic double mastectomy, and three also had risk-reducing salpingo-oophorectomy. Two (6%) of the 33 high-risk ADS tested only in the research setting had a family history of breast/ovarian cancer and carried pathogenic mutations: one carried a BRCA2 mutation, whereas the other carried a mutation in the colon cancer predisposition gene PMS2. No mutations were detected in the 177 low-risk women tested in the research setting. Discussion Within this unaffected cohort of ADS, 23% were classified as high risk. Although all of the previvors engaged in risk-reduction strategies, only one-third of the high-risk women sought genetic testing. These data suggest that detailed family histories of cancer should be collected in ADS and genetic testing should be encouraged in those at high risk. The identification of previvors and concomitant use of risk-reduction strategies may improve health in the ADS and optimize military readiness by decreasing cancer incidence.

scholarly journals Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0251639
Author(s):  
Camila Matzenbacher Bittar ◽  
Yasminne Marinho de Araújo Rocha ◽  
Igor Araujo Vieira ◽  
Clévia Rosset ◽  
Tiago Finger Andreis ◽  
...  
Keyword(s):  
Soft Tissue Sarcomas ◽  
Pathogenic Variant ◽  
Southern Brazil ◽  
Premenopausal Breast Cancer ◽  
Li Fraumeni Syndrome ◽  
Cancer Predisposition Syndrome ◽  
Pathogenic Variants ◽  
Li Fraumeni ◽  
Group B ◽  
Adrenocortical Carcinomas

Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age. The core tumors related to LFS are bone and soft tissue sarcomas, premenopausal breast cancer, brain tumors, adrenocortical carcinomas (ACC), and leukemias. The revised Chompret criteria has been widely used to establish clinical suspicion and support TP53 germline variant testing and LFS diagnosis. Information on TP53 germline pathogenic variant (PV) prevalence when using Chompret criteria in South America and especially in Brazil is scarce. Therefore, the aim of this study was to characterize patients that fulfilled these specific criteria in southern Brazil, a region known for its high population frequency of a founder TP53 variant c.1010G>A (p.Arg337His), as known as R337H. TP53 germline testing of 191 cancer-affected and independent probands with LFS phenotype identified a heterozygous pathogenic/likely pathogenic variant in 26 (13.6%) probands, both in the DNA binding domain (group A) and in the oligomerization domain (group B) of the gene. Of the 26 carriers, 18 (69.23%) were R337H heterozygotes. Median age at diagnosis of the first tumor in groups A and B differed significantly in this cohort: 22 and 2 years, respectively (P = 0.009). The present study shows the clinical heterogeneity of LFS, highlights particularities of the R337H variant and underscores the need for larger collaborative studies to better define LFS prevalence, clinical spectrum and penetrance of different germline TP53 pathogenic variants.

scholarly journals Atypical Steatocystoma Multiplex with Calcification

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Muhammad Hasibur Rahman ◽  
Muhammad Saiful Islam ◽  
Nazma Parvin Ansari
Keyword(s):  
Family History ◽  
Surgical Excision ◽  
Punch Biopsy ◽  
Histological Findings ◽  
Atypical Case ◽  
Steatocystoma Multiplex ◽  
History Of

A 60-year-old male reported to us with an atypical case of giant steatocystoma multiplex in the scrotum with calcification. There was no family history of similar lesions. Yellowish, creamy material was expressed from a nodule during punch biopsy. The diagnosis was based on clinical as well as histological findings. Successful surgical excision was done to cure the case without any complications.

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.

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