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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCNS + PNS tumor syndromes, familial; differential diagnosis

Summary

Short information

A curated panel containing 13 core candidate genes and altogether 29 genes for the comprehensive analysis of the genetic susceptibility for Familial Neuro-tumor syndromes, CNS + PNS

ID
FP1928
Number of genes
23 Accredited laboratory test
Examined sequence length
35,7 kb (Core-/Core-canditate-Genes)
85,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MLH12271NM_000249.4AR
MSH22805NM_000251.3AR
NF18457NM_001042492.3AD
NF21788NM_000268.4AD
PMS22589NM_000535.7AD
PTCH14344NM_000264.5AD
PTEN1212NM_000314.8AR
SUFU1455NM_016169.4AD
TP531182NM_000546.6AD
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD
VHL642NM_000551.4AD
APC8532NM_000038.6AD
ATM9171NM_000051.4n.k.
BRCA210257NM_000059.4AD, AR, Sus
LZTR12523NM_006767.4AD
MSH64083NM_000179.3AR
PALB23561NM_024675.4n.k.
PTPN111782NM_002834.5AD
RB12787NM_000321.3AD, Sus
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
SMARCE11236NM_003079.5AD

Informations about the disease

Clinical Comment

Although sporadic primary neoplasms account for the majority of nervous system tumors, familial tumor syndromes are also clinically relevant. Intracranial malignancies such as meningiomas, glioblastomas, astrocytomas, medulloblastomas, ependymomas, oligodendrogliomas, craniopharyngiomas and pituitary adenomas may each be associated with one or another genetic syndrome. Therefore, the tumors that manifest with these genetic syndromes show quite different phenotypes. They may appear early in life and may be multiple as well. The respective prognosis may be better or worse if these tumors are associated with a familial syndrome such as in neurofibromatosis type 1 + 2, tuberous sclerosis complex, von Hippel-Lindau syndrome, hereditary nonpolyposis-associated colorectal carcinoma, multiple endocrine neoplasia 1 or Gorlin or Li-Fraumeni syndrome, respectively. Peripheral nerve sheath tumors include neurofibromas, schwannomas, meningiomas, vestibular schwannomas and hemangioblastomas. Often autosomal dominant inheritance patterns are observed, rarely autosomal recessive transmission. The molecular genetic diagnostic yields naturally vary widely depending on tumor entities and genetic causes. A negative DNA result does not exclude the clinical diagnosis.

References: DOI 10.1007/s00401-020-02130-0

https://www.uptodate.com/contents/peripheral-nerve-tumors

 

Synonyms
  • Retinoblastoma (RB1)
  • Alias: Familial tumour syndromes of the central + peripheral nervous systems
  • Allelic: Adenomas, multiple colorectal (MUTYH)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Basal cell carcinoma, somatic (PTCH1)
  • Allelic: Basal cell nevus syndrome (PTCH1)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Coffin-Siris syndrome 3 (SMARCB1)
  • Allelic: Coffin-Siris syndrome 5 (SMARCE1)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Fanconi anemia, complementation group N (PALB2)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Joubert syndrome 32 (SUFU)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, acute myeloid (RUNX1)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Allelic: Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Allelic: Menke-Hennekam syndrome 1 (CREBBP)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
  • Allelic: Nijmegen breakage syndrome (NBN)
  • Allelic: Noonan syndrome 1 (PTPN11)
  • Allelic: Noonan syndrome 10 (LZTR1)
  • Allelic: Noonan syndrome 2 (LZTR1)
  • Allelic: Pallister-Hall syndrome (GLI3)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Paragangliomas 5 (SDHA)
  • Allelic: Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Renal cell carcinoma, somatic (VHL)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Allelic: Rubinstein-Taybi syndrome 1 (CREBBP)
  • Allelic: Wilms tumor (BRCA2)
  • Atypical teratoid/rhabdoid tumors (SMARCA4, SMARCB1)
  • Choroid plexus carcinoma (TP53)
  • Choroid plexus papilloma (TP53)
  • Dysplastic cerebellar gangliocytoma (PTEN)
  • Ependymoma (APC, NF1, NF2, TP53)
  • Fanconi anemia, complementation group D1 605724 AR 3
  • Glioblastoma 3 (BRCA2)
  • Glioma susceptibility 1 (TP53)
  • Glioma susceptibility 2 (PTEN)
  • High-grade gliomas, glioblastomas (MLH1, MSH2, MSH6, PMS2, TP53)
  • High-grade gliomas, subtype not specified (ATM, BRCA2, LZTR1, MUTYH, NBN, NF1, TSC2)
  • Li-Fraumeni syndrome (TP53)
  • Low-grade gliomas (NF1, PMS2, RUNX1)
  • Malignant peripheral nerve sheath tumor (NF1)
  • Medulloblastoma (APC, BRCA2, CREBBP, GLI3, GPR161, NF2, PALB2, PTCH1, SDHA, SUFU, TP53, VHL)
  • Medulloblastoma (BRCA2)
  • Medulloblastoma predisposition syndrome (PALB2)
  • Medulloblastoma, desmoplastic (SUFU)
  • Melanoma + neural system tumor syndrome (CDKN2A, CDKN2B)
  • Meningioma (NF2, SMARCE1)
  • Meningioma (PTEN)
  • Meningioma, familial, susceptibility to (SMARCE1, SUFU)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 + 2 (NF1 + NF2)
  • Optic glioma (NF1)
  • Pheochromocytoma (VHL)
  • Pilocytic astrocytoma (BRCA2, NBN, PTPN11, TSC2)
  • Pineoblastoma (DICER1, RB1)
  • Retinoblastoma (RB1)
  • Retinoblastoma, trilateral (RB1)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumors, somatic (SMARCB1)
  • Schwannoma (NF2)
  • Schwannomatosis, somatic (NF2)
  • Schwannomatosis-1, susceptibility to (SMARCB1)
  • Schwannomatosis-2, susceptibility to (LZTR1)
  • von Hippel-Lindau syndrome (VHL)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined