Biomaterial Database

[Hereditary predisposition to tumors of the central and peripheral nervous systems]. 2020

Baptiste Sourty, and Audrey Rousseau

Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France.

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type (which may transform into malignant peripheral nerve sheath tumor), and pilocytic astrocytomas of the optic pathways. Neurofibromatosis type 2 patients present with multiple schwannomas (typically bilateral vestibular schwannomas), meningiomas, and ependymomas. Li-Fraumeni syndrome (germline TP53 mutation) is associated with choroid plexus tumors (carcinomas), medulloblastomas, and diffuse astrocytomas. Multiple hemangioblastomas are characteristic of von Hippel-Lindau syndrome while subependymal giant cell astrocytomas are pathognomonic of tuberous sclerosis complex. Dysplastic cerebellar gangliocytomas of adult patients occur in Cowden syndrome. Turcot syndrome overlaps with constitutional mismatch repair deficiency syndrome (CMMRD), which is associated with giant cell glioblastomas. Rhabdoid tumor predisposition syndrome (germline mutation of SMARCB1/INI1) is associated with atypical teratoid/rhabdoid tumors. Tumors arising in the setting of a cancer predisposition syndrome develop along specific genetic pathways. Some histopathological and immunohistochemical characteristics of these tumors may point toward such a syndrome. The diagnosis of a cancer predisposition syndrome is of tremendous importance to the patients and their families who require genetic counseling and long-term follow-up.

UI	MeSH Term	Description	Entries
D007150	Immunohistochemistry	Histochemical localization of immunoreactive substances using labeled antibodies as reagents.	Immunocytochemistry,Immunogold Techniques,Immunogold-Silver Techniques,Immunohistocytochemistry,Immunolabeling Techniques,Immunogold Technics,Immunogold-Silver Technics,Immunolabeling Technics,Immunogold Silver Technics,Immunogold Silver Techniques,Immunogold Technic,Immunogold Technique,Immunogold-Silver Technic,Immunogold-Silver Technique,Immunolabeling Technic,Immunolabeling Technique,Technic, Immunogold,Technic, Immunogold-Silver,Technic, Immunolabeling,Technics, Immunogold,Technics, Immunogold-Silver,Technics, Immunolabeling,Technique, Immunogold,Technique, Immunogold-Silver,Technique, Immunolabeling,Techniques, Immunogold,Techniques, Immunogold-Silver,Techniques, Immunolabeling
D009386	Neoplastic Syndromes, Hereditary	The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.	Cancer Syndromes, Hereditary,Hereditary Cancer Syndromes,Hereditary Neoplastic Syndromes,Cancer Syndrome, Hereditary,Hereditary Cancer Syndrome,Hereditary Neoplastic Syndrome,Neoplastic Syndrome, Hereditary,Syndrome, Hereditary Cancer,Syndrome, Hereditary Neoplastic,Syndromes, Hereditary Cancer,Syndromes, Hereditary Neoplastic
D010524	Peripheral Nervous System Neoplasms	Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)	Peripheral Nerve Neoplasms,Peripheral Nerve Neoplasms, Benign,Peripheral Nerve Neoplasms, Malignant,Peripheral Nerve Neoplastic Infiltration,Peripheral Nerve Tumors,Peripheral Nervous System Benign Neoplasms,Peripheral Nervous System Malignant Neoplasms,Neoplasm, Peripheral Nerve,Neoplasms, Peripheral Nerve,Nerve Neoplasm, Peripheral,Nerve Neoplasms, Peripheral,Nerve Tumor, Peripheral,Nerve Tumors, Peripheral,Peripheral Nerve Neoplasm,Peripheral Nerve Tumor,Tumor, Peripheral Nerve,Tumors, Peripheral Nerve
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
D002490	Central Nervous System	The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.	Cerebrospinal Axis,Axi, Cerebrospinal,Axis, Cerebrospinal,Central Nervous Systems,Cerebrospinal Axi,Nervous System, Central,Nervous Systems, Central,Systems, Central Nervous
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006223	Hamartoma Syndrome, Multiple	A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.	Bannayan-Riley-Ruvalcaba Syndrome,Cowden Disease,Cowden's Disease,Lhermitte-Duclos Disease,Multiple Hamartoma Syndrome,PTEN Hamartoma Tumor Syndrome,Bannayan-Ruvalcaba-Riley Syndrome,Bannayan-Zonana Syndrome,Cowden Syndrome,Cowden's Syndrome,Dysplastic Gangliocytoma of Cerebellum,Dysplastic Gangliocytoma of the Cerebellum,Macrocephaly, Multiple Lipomas, and Hemangiomata,Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas,Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata,Myhre-Riley-Smith Syndrome,Riley-Smith Syndrome,Ruvalcaba-Myhre Syndrome,Ruvalcaba-Myhre-Smith Syndrome,Bannayan Riley Ruvalcaba Syndrome,Bannayan Zonana Syndrome,Cerebellum Dysplastic Gangliocytoma,Cerebellum Dysplastic Gangliocytomas,Cowdens Disease,Cowdens Syndrome,Hamartoma Syndromes, Multiple,Lhermitte Duclos Disease,Multiple Hamartoma Syndromes,Myhre Riley Smith Syndrome,Riley Smith Syndrome,Ruvalcaba Myhre Smith Syndrome
D006623	von Hippel-Lindau Disease	An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.	Cerebelloretinal Angiomatosis, Familial,Lindau Disease,Angiomatosis Retinae,Familial Cerebello-Retinal Angiomatosis,Hippel-Lindau Disease,Lindau's Disease,VHL Syndrome,von Hippel-Lindau Syndrome,Angiomatoses, Familial Cerebello-Retinal,Angiomatoses, Familial Cerebelloretinal,Angiomatosis, Familial Cerebello-Retinal,Angiomatosis, Familial Cerebelloretinal,Cerebello-Retinal Angiomatoses, Familial,Cerebello-Retinal Angiomatosis, Familial,Cerebelloretinal Angiomatoses, Familial,Familial Cerebello Retinal Angiomatosis,Familial Cerebello-Retinal Angiomatoses,Familial Cerebelloretinal Angiomatoses,Familial Cerebelloretinal Angiomatosis,Hippel Lindau Disease,Lindau's Diseases,Lindaus Disease,VHL Syndromes,von Hippel Lindau Disease,von Hippel Lindau Syndrome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014408	Biomarkers, Tumor	Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or BODY FLUIDS. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including HORMONES; ANTIGENS; amino and NUCLEIC ACIDS; ENZYMES; POLYAMINES; and specific CELL MEMBRANE PROTEINS and LIPIDS.	Biochemical Tumor Marker,Cancer Biomarker,Carcinogen Markers,Markers, Tumor,Metabolite Markers, Neoplasm,Tumor Biomarker,Tumor Marker,Tumor Markers, Biochemical,Tumor Markers, Biological,Biochemical Tumor Markers,Biological Tumor Marker,Biological Tumor Markers,Biomarkers, Cancer,Marker, Biochemical Tumor,Marker, Biologic Tumor,Marker, Biological Tumor,Marker, Neoplasm Metabolite,Marker, Tumor Metabolite,Markers, Biochemical Tumor,Markers, Biological Tumor,Markers, Neoplasm Metabolite,Markers, Tumor Metabolite,Metabolite Markers, Tumor,Neoplasm Metabolite Markers,Tumor Markers, Biologic,Tumor Metabolite Marker,Biologic Tumor Marker,Biologic Tumor Markers,Biomarker, Cancer,Biomarker, Tumor,Cancer Biomarkers,Marker, Tumor,Markers, Biologic Tumor,Markers, Carcinogen,Metabolite Marker, Neoplasm,Metabolite Marker, Tumor,Neoplasm Metabolite Marker,Tumor Biomarkers,Tumor Marker, Biochemical,Tumor Marker, Biologic,Tumor Marker, Biological,Tumor Markers,Tumor Metabolite Markers