Recurrent Pleomorphic Myxoid Liposarcoma in a Patient With Li-Fraumeni Syndrome

2019 ◽  
Vol 28 (2) ◽  
pp. 225-228 ◽  
Author(s):  
Somaye Y. Zare ◽  
Mariah Leivo ◽  
Oluwole Fadare
Keyword(s):  
Young Patients ◽  
B Cell Lymphoma ◽  
Myxoid Liposarcoma ◽  
Tp53 Gene ◽  
Anterior Chest Wall ◽  
Second Primary ◽  
Mdm2 Gene ◽  
Li Fraumeni Syndrome ◽  
First Case ◽  
Li Fraumeni

Pleomorphic myxoid liposarcoma is an extremely rare, clinically aggressive subtype of liposarcoma that has been primarily reported in young patients. In this article, we report a case of a pleomorphic myxoid liposarcoma that presented as a second primary neoplasm in a 34-year-old man with history of primary mediastinal large B-cell lymphoma. During the clinical workup, the patient was diagnosed with a germline TP53 gene mutation and Li-Fraumeni syndrome. The tumor, a 2.9 × 2.3 × 2.0 cm well-demarcated and solid mass, was centered in the anterior chest wall soft tissue. Histologically, most of the tumor displayed abundantly myxoid stroma, low cellularity of mostly bland spindle cells, delicate branching capillaries, and lipoblasts; these areas transitioned to small areas whose features were reminiscent of pleomorphic liposarcoma. As assessed by fluorescence in situ hybridization, the tumor showed no DDIT3 ( CHOP) (12q13) rearrangements or MDM2 gene amplification. Clinically, the tumor progressed with multiple recurrences and metastasis to the humerus bone. To our knowledge, this is the first case of pleomorphic myxoid liposarcoma diagnosed in an adult with Li-Fraumeni syndrome.

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations

2009 ◽  
Vol 193 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Alena Finkova ◽  
Alzbeta Vazna ◽  
Ondrej Hrachovina ◽  
Sarka Bendova ◽  
Kamila Prochazkova ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Tp53 Gene ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary

2016 ◽  
Vol 39 (1) ◽  
pp. 37 ◽  
Author(s):  
David Malkin
Keyword(s):  
Wilms Tumor ◽  
Cancer Genetics ◽  
Tp53 Gene ◽  
Pleuropulmonary Blastoma ◽  
Li Fraumeni Syndrome ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Li Fraumeni ◽  
Sick Children ◽  
Risk Of Cancer

In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer – one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB).

scholarly journals Risk of multiple primary cancer diagnosis over age in families of Li-Fraumeni syndrome: a single institution perspective

2019 ◽  
Author(s):  
Seung Jun Shin ◽  
Elissa B. Dodd ◽  
Fan Gao ◽  
Jasmina Bojadzieva ◽  
Jingxiao Chen ◽  
...  
Keyword(s):  
Cancer Diagnosis ◽  
Data Availability ◽  
Second Primary ◽  
Multiple Primary Cancer ◽  
Primary Cancer ◽  
Second Primary Cancer ◽  
Li Fraumeni Syndrome ◽  
Mutation Carriers ◽  
Multiple Primary ◽  
Li Fraumeni

AbstractLi-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder associated with TP53 germline mutations and an increased lifetime risk of multiple primary cancers (MPC). Penetrance estimation of time to first and second primary cancer within LFS remains challenging due to limited data availability and the difficulty of accounting for the characteristic effects of a primary cancer on the penetrance of a second primary cancer. Using a recurrent events survival modeling approach, we estimated penetrance for both first and second primary cancer diagnosis from a pediatric sarcoma cohort (number families=189; Single primary cancer, or SPC=771; MPC=87). We then validated the risk prediction performance using an independent clinical cohort of TP53 tested individuals from MD Anderson (SPC=102; MPC=58). Our penetrance estimates are dependent on TP53 genotype, sex, and, importantly, age of diagnosis (AoD) for the first PC. We observed the later the AoD is, the shorter the gap time is for this person to be diagnosed with a second PC. We achieved an Area under the ROC curve (AUC) of 0.77 for predicting individual outcomes of MPC vs. SPC. In summary, we have provided the first set of penetrance estimates for SPC and MPC for TP53 mutation carriers, and demonstrated its accuracy for cancer risk assessment. Our open-source R package, LFSPRO, provides future risk estimates for SPC and MPC among TP53 germline mutation carriers.SignificanceOur tool can be used to support clinical counseling of LFS cancer survivors for better health management.

scholarly journals Efficacy of oral metformin in a patient with metastatic adrenocortical carcinoma: Examination of mechanisms and therapeutic implications

Rare Tumors ◽  
2018 ◽  
Vol 10 ◽  
pp. 203636131774964 ◽  
Author(s):  
RD Peixoto ◽  
LM Gomes ◽  
TT Sousa ◽  
DJ Racy ◽  
M Shigenaga ◽  
...  
Keyword(s):  
Adrenocortical Carcinoma ◽  
Tp53 Mutation ◽  
Germ Line ◽  
Objective Response ◽  
Tp53 Gene ◽  
Li Fraumeni Syndrome ◽  
Therapeutic Implications ◽  
Treatment Regimens ◽  
First Line Therapy ◽  
Li Fraumeni

Although rare, adrenocortical carcinoma is among the most common tumors found in children with Li-Fraumeni syndrome and Li-Fraumeni-like syndrome, associated with germ-line mutations in the TP53 gene. In southern Brazil, one form of Li-Fraumeni syndrome, associated with childhood adrenocortical carcinoma, is caused by a mutation in the R337H TP53 tetramerisation domain and is attributed to a familial founder effect. Adrenocortical carcinoma is considered an aggressive neoplasm, usually of poor prognosis and is generally unresponsive to systemic chemotherapy. Optimal treatment regimens remain to be established. We report the case of a young woman with metastatic adrenocortical carcinoma, who achieved stable disease with mitotane, cisplatin, doxorubicin, and etoposide as first-line therapy, but then had an objective response to oral metformin that lasted 9 months. The presence of the R337H TP53 mutation suggests a mechanism for the observed response to metformin.

scholarly journals The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes

2006 ◽  
Vol 15 (1) ◽  
pp. 110-114 ◽  
Author(s):  
Mariëlle W G Ruijs ◽  
Marjanka K Schmidt ◽  
Heli Nevanlinna ◽  
Johanna Tommiska ◽  
Kristiina Aittomäki ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Mdm2 Gene ◽  
Single Nucleotide ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome

1996 ◽  
Vol 32 (8) ◽  
pp. 1359-1365 ◽  
Author(s):  
B. Dockhorn-dworniczak ◽  
J. Wolff ◽  
C. Poremba ◽  
K.-L. Schäfer ◽  
J. Ritter ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Tp53 Gene ◽  
Li Fraumeni Syndrome ◽  
Tp53 Gene Mutation ◽  
Li Fraumeni

scholarly journals Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene

Oncogene ◽  
2003 ◽  
Vol 22 (6) ◽  
pp. 840-846 ◽  
Author(s):  
Gaëlle Bougeard ◽  
Laurence Brugières ◽  
Agnès Chompret ◽  
Paul Gesta ◽  
Françoise Charbonnier ◽  
...  
Keyword(s):  
Tp53 Gene ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Complete Deletion

scholarly journals Penetrance Estimates Over Time to First and Second Primary Cancer Diagnosis in Families with Li-Fraumeni Syndrome: A Single Institution Perspective

2019 ◽  
Vol 80 (2) ◽  
pp. 347-353 ◽  
Author(s):  
Seung Jun Shin ◽  
Elissa B. Dodd-Eaton ◽  
Fan Gao ◽  
Jasmina Bojadzieva ◽  
Jingxiao Chen ◽  
...  
Keyword(s):  
Cancer Diagnosis ◽  
Second Primary ◽  
Primary Cancer ◽  
Second Primary Cancer ◽  
Single Institution ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Over Time

scholarly journals Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome

Biostatistics ◽  
2018 ◽  
Vol 21 (3) ◽  
pp. 467-482 ◽  
Author(s):  
Seung Jun Shin ◽  
Jialu Li ◽  
Jing Ning ◽  
Jasmina Bojadzieva ◽  
Louise C Strong ◽  
...  
Keyword(s):  
External Validation ◽  
Recurrent Event ◽  
Cancer Center ◽  
Multiple Primary Cancers ◽  
Second Primary ◽  
Li Fraumeni Syndrome ◽  
Multiple Primary ◽  
Event Model ◽  
Li Fraumeni ◽  
Cancer Syndromes

Summary A common phenomenon in cancer syndromes is for an individual to have multiple primary cancers (MPC) at different sites during his/her lifetime. Patients with Li-Fraumeni syndrome (LFS), a rare pediatric cancer syndrome mainly caused by germline TP53 mutations, are known to have a higher probability of developing a second primary cancer than those with other cancer syndromes. In this context, it is desirable to model the development of MPC to enable better clinical management of LFS. Here, we propose a Bayesian recurrent event model based on a non-homogeneous Poisson process in order to obtain penetrance estimates for MPC related to LFS. We employed a familywise likelihood that facilitates using genetic information inherited through the family pedigree and properly adjusted for the ascertainment bias that was inevitable in studies of rare diseases by using an inverse probability weighting scheme. We applied the proposed method to data on LFS, using a family cohort collected through pediatric sarcoma patients at MD Anderson Cancer Center from 1944 to 1982. Both internal and external validation studies showed that the proposed model provides reliable penetrance estimates for MPC in LFS, which, to the best of our knowledge, have not been reported in the LFS literature.

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