BIOMAT Database Logo BIOMAT Database Logo

Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations. 1998

A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Department of Neuropathology, Victor Segalen University, Bordeaux, France.

Germline p53 mutations carry an increased risk of development of breast cancer, soft tissue and osteosarcomas, brain tumors, leukemia and adrenocortical carcinomas. Cerebral neoplasms are usually of astrocytic lineage and occur in 40% of affected families. This report presents clinical, neuropathological and molecular genetic data from 2 families in France with an identical p53 germline mutation in codon 248 (CGG->TGG; Arg->Trp) and a clustering of CNS tumors. The youngest patient in each family developed a malignant choroid plexus tumor while several young adults of both kindred succumbed to low-grade astrocytoma, anaplastic astrocytoma or glioblastoma. The only non-neural neoplasm was an adrenocortical carcinoma in a boy aged 4 years who developed an anaplastic choroid plexus papilloma 2 years later. Of 2 previously reported inherited choroid plexus tumors, 1 occurred in a family which also carried a germline mutation in codon 248. It remains to be shown whether this unusual pattern of CNS tumors is due to an organ-specific effect of this particular p53 mutation or whether it reflects the genetic background of the affected families.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010212 Papilloma A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed) Papilloma, Squamous Cell,Papillomatosis,Papillomas,Papillomas, Squamous Cell,Papillomatoses,Squamous Cell Papilloma,Squamous Cell Papillomas
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001932 Brain Neoplasms Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. Brain Cancer,Brain Metastases,Brain Tumors,Cancer of Brain,Malignant Primary Brain Tumors,Neoplasms, Intracranial,Benign Neoplasms, Brain,Brain Neoplasm, Primary,Brain Neoplasms, Benign,Brain Neoplasms, Malignant,Brain Neoplasms, Malignant, Primary,Brain Neoplasms, Primary Malignant,Brain Tumor, Primary,Brain Tumor, Recurrent,Cancer of the Brain,Intracranial Neoplasms,Malignant Neoplasms, Brain,Malignant Primary Brain Neoplasms,Neoplasms, Brain,Neoplasms, Brain, Benign,Neoplasms, Brain, Malignant,Neoplasms, Brain, Primary,Primary Brain Neoplasms,Primary Malignant Brain Neoplasms,Primary Malignant Brain Tumors,Benign Brain Neoplasm,Benign Brain Neoplasms,Benign Neoplasm, Brain,Brain Benign Neoplasm,Brain Benign Neoplasms,Brain Cancers,Brain Malignant Neoplasm,Brain Malignant Neoplasms,Brain Metastase,Brain Neoplasm,Brain Neoplasm, Benign,Brain Neoplasm, Malignant,Brain Neoplasms, Primary,Brain Tumor,Brain Tumors, Recurrent,Cancer, Brain,Intracranial Neoplasm,Malignant Brain Neoplasm,Malignant Brain Neoplasms,Malignant Neoplasm, Brain,Neoplasm, Brain,Neoplasm, Intracranial,Primary Brain Neoplasm,Primary Brain Tumor,Primary Brain Tumors,Recurrent Brain Tumor,Recurrent Brain Tumors,Tumor, Brain
D002277 Carcinoma A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for "cancer." Carcinoma, Anaplastic,Carcinoma, Spindle-Cell,Carcinoma, Undifferentiated,Carcinomatosis,Epithelial Neoplasms, Malignant,Epithelioma,Epithelial Tumors, Malignant,Malignant Epithelial Neoplasms,Neoplasms, Malignant Epithelial,Anaplastic Carcinoma,Anaplastic Carcinomas,Carcinoma, Spindle Cell,Carcinomas,Carcinomatoses,Epithelial Neoplasm, Malignant,Epithelial Tumor, Malignant,Epitheliomas,Malignant Epithelial Neoplasm,Malignant Epithelial Tumor,Malignant Epithelial Tumors,Neoplasm, Malignant Epithelial,Spindle-Cell Carcinoma,Spindle-Cell Carcinomas,Tumor, Malignant Epithelial,Undifferentiated Carcinoma,Undifferentiated Carcinomas
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children

Related Publications

A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Tumors associated with p53 germline mutations: a synopsis of 91 families.
January 1997, The American journal of pathology,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome.
January 2021, Frontiers in oncology,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.
November 2012, Pediatric blood & cancer,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
July 2005, European journal of cancer (Oxford, England : 1990),
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
Microsatellite instability, PTEN and p53 germline mutations in glioma families.
January 2001, Acta oncologica (Stockholm, Sweden),
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
[Choroid plexus tumors].
June 1998, Arquivos de neuro-psiquiatria,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
[Choroid plexus tumors].
January 2001, Revista de neurologia,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
A database of germline p53 mutations in cancer-prone families.
January 1998, Nucleic acids research,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
The Evolution of Tumors in Mice and Humans with Germline p53 Mutations.
January 2015, Cold Spring Harbor symposia on quantitative biology,
A Vital, and P P Bringuier, and H Huang, and F San Galli, and J Rivel, and S Ansoborlo, and J M Cazauran, and L Taillandier, and P Kleihues, and H Ohgaki
p53 gene mutations in human astrocytic brain tumors including pilocytic astrocytomas.
June 1996, Human pathology,
Copied contents to your clipboard!