scholarly journals Choroid plexus carcinoma: review of literature

2020 ◽  
Vol 7 (1) ◽  
pp. 51-61
Author(s):  
A. F. Valiakhmetova ◽  
L. I. Papusha ◽  
L. A. Yasko ◽  
A. E. Druy ◽  
S. K. Gorelyshev ◽  
...  
Keyword(s):  
Choroid Plexus ◽  
Molecular Genetic ◽  
Survival Rates ◽  
International Study ◽  
Tp53 Gene ◽  
Choroid Plexus Carcinoma ◽  
Main Role ◽  
Genetic Changes ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Choroid plexus carcinoma (CPC) is a rare malignant tumor arising from the epithelium of the choroid plexus of the brain. More than 80 % of CPCs occur in children. Mutations in the TP53 gene is played the main role in the pathogenesis of these tumors. Choroid plexus carcinomas in 40 % of cases are associated with Li–Fraumeni syndrome. Survival rates in patients with CPC and Li–Fraumeni syndrome are extremely low. The standards of the therapy for patients with CPC are not defined. The extent of surgical resection and treatment modality correlate with prognosis. The role of adjuvant therapy in CPC remains unclear: doses and volumes of radiation therapy (RT), combinations of chemotherapeutic drugs, timing, and a combination of RT and chemotherapy (CT) have not been identified. Also, there is neither a standard CT regimen nor a prospective international study assessing the efficacy and toxicity of various combinations of cytostatics in patients with CPC. The article presents an overview of the existing molecular genetic changes, existing methods for the diagnosis and treatment of choroid plexus carcinoma.

scholarly journals Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zishi Fang ◽  
Yan Su ◽  
Hailang Sun ◽  
Ming Ge ◽  
Zhan Qi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Early Diagnosis ◽  
Choroid Plexus ◽  
Tp53 Gene ◽  
Choroid Plexus Carcinoma ◽  
Central Nervous System Tumors ◽  
Nervous System Tumors ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Abstract Background Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome caused by germline TP53 gene mutations. It is characterized by high risk of early-onset cancer, and has been confirmed as associated with multiple tumors clinically. So pediatricians should be more alert to LFS in children with tumors. Choroid plexus carcinoma (CPC) is a rare, malignant tumor which account for less than 1% of all central nervous system (CNS) tumors. However, when such tumorigenesis occurs, it is important to be vigilant for the presence of LFS. Case presentation The first patient is a 32-month-old boy admitted for convulsions and then was found intracranial space-occupying lesion. Underwent operation, he was diagnosis as choroid plexus carcinoma (WHO Grade III). After 5 months, his elder sister, a 13-year-old girl, was brought to emergency department for confusion and intermittent convulsions. Surgery was performed immediately after head CT examination found the lesion. The pathology result indicated glioblastoma. Because the siblings of the same family have successively suffered from malignant tumors, we performed genetic testing on this family. TP53 gene mutation occurred in both children of these two cases from their father, and their other brother was not spared either. So the two siblings both met the diagnostic criteria of LFS. Then they all received systematic anti-tumor therapy, and follow-up hitherto. Conclusion Here we reported a rare LFS case that two siblings were inherited the same TP53 germline mutations from their father. They suffered from choroid plexus carcinoma and glioblastoma and were finally diagnosed with LFS. In this LFS family, the primary tumors of the two children were both central nervous system tumors, which were not reported in the previous literature. It is suggested that clinicians should be alert to LFS related tumors, which is helpful for early diagnosis. Timely detection of TP53 gene is an important way for early diagnosis of LFS, especially in children with tumor. The incidence of secondary tumor in LFS patients is significantly higher, and other family members of the LFS patient also have an increased risk of suffering from the tumors. Therefore, early diagnosis and timely tumor surveillance can obtain better therapeutic effect and prognosis for both proband and their family.

scholarly journals Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma

2017 ◽  
Vol 39 (8) ◽  
pp. e473-e475 ◽  
Author(s):  
Matthew McEvoy ◽  
Nathan Robison ◽  
Peter Manley ◽  
Torunn Yock ◽  
Kristine Konopka ◽  
...  
Keyword(s):  
Choroid Plexus ◽  
Successful Treatment ◽  
Choroid Plexus Carcinoma ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

Successful Treatment of an Unresectable Choroid Plexus Carcinoma in a Patient With Li-Fraumeni Syndrome

2005 ◽  
Vol 27 (1) ◽  
pp. 46-49 ◽  
Author(s):  
David S Dickens ◽  
Judith A Dothage ◽  
Richard L Heideman ◽  
Edgar T Ballard ◽  
Paul T Jubinsky
Keyword(s):  
Choroid Plexus ◽  
Successful Treatment ◽  
Choroid Plexus Carcinoma ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

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 Molecular genetic changes in gastric carcinoma

2021 ◽  
Vol 6 ◽  
pp. 30-46
Author(s):  
Juhi Singh ◽  
Puneet Kumar ◽  
Khushi Verma ◽  
Satyender Kumar Tiwary ◽  
Gopeshwar Narayan ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gastric Carcinoma ◽  
Wide Spectrum ◽  
Molecular Genetic ◽  
Survival Rates ◽  
High Throughput Analysis ◽  
Genetic Changes ◽  
Genetic Level ◽  
New Biomarkers

Gastric cancer remains highly prevalent and accounts for a notable proportion of global cancer mortality and this is associated with poor survival rates. Understanding the molecular genetic changes of gastric carcinoma may offer an insight into its pathogenesis helps in identifying new biomarkers, aid prognostication, and novel treatment targets. Over a past few decades, advances in technology and high throughput analysis have improved understanding of the molecular genetic aspects of gastric cancer. In this article, hierarchy of the changes at genetic and molecular level including several aspects which are heterogenous and represents a wide spectrum such as tumor suppressor genes, oncogenes, cellcycle regulators, apoptosis, cell-adhesion molecules, loss of heterozygosity, microsatellite instability, and epigenetic changes. The classification of gastric carcinoma at molecular and genetic level as well as hereditary gastric carcinoma is elaborated. The molecular genetic aspects regarding pathogenesis, changes and aberrations of all genes and pathways which are involved in gastric cancer are addressed in this review.

Choroid plexus tumours

2017 ◽  
Author(s):  
Maria Santos ◽  
Eric Bouffet ◽  
Carolyn Freeman ◽  
Mark M. Souweidane
Keyword(s):  
Choroid Plexus ◽  
Choroid Plexus Papilloma ◽  
Choroid Plexus Carcinoma ◽  
Adjuvant Radiation ◽  
Li Fraumeni Syndrome ◽  
Central Nervous System Tumours ◽  
Histological Criteria ◽  
Wide Range ◽  
Plexus Papilloma

Choroid plexus tumours are rare, intraventricular, primary central nervous system tumours derived from the choroid plexus epithelium. They occur predominantly in children and are classified based on histological criteria as choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. Choroid plexus carcinomas can occur in the context of Li–Fraumeni syndrome, where the TP53 germline mutation predisposes patients to a wide range of neoplasms. Treatment of these tumours is challenging, due to their high vascularity and the young age of the patients. While surgery is the mainstay of treatment of all choroid plexus tumours, the exact role of adjuvant therapy, particularly in choroid plexus carcinoma, is still unclear. For incompletely resected tumours, there is evidence that neoadjuvant chemotherapy can facilitate second-look surgery and reduce the risk of intraoperative bleeding. However, the role of adjuvant radiation after complete resection remains unclear.

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