We are analyzing https://link.springer.com/article/10.1007/s13311-022-01277-w.

Title:
Nervous system (NS) Tumors in Cancer Predisposition Syndromes | Neurotherapeutics
Description:
Genetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7–10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes. Specifically, the cancer predisposition rate in pediatric patients with NS tumors has been reported to be as high as 15%, though it can approach 50% in certain tumor types (i.e., choroid plexus carcinoma associated with Li Fraumeni Syndrome). Cancer predisposition syndromes are caused by pathogenic variation in genes that primarily function as tumor suppressors and proto-oncogenes. These variants are found in the germline or constitutional DNA. Mosaicism, however, can affect only certain tissues, resulting in varied manifestations. Increased understanding of the genetic underpinnings of cancer predisposition syndromes and the ability of clinical laboratories to offer molecular genetic testing allows for improvement in the identification of these patients. The identification of a cancer predisposition syndrome in a CNS tumor patient allows for changes to medical management to be made, including the initiation of cancer surveillance protocols. Finally, the identification of at-risk biologic relatives becomes feasible through cascade (genetic) testing. These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors of prognosis and survival. The treatment paradigm of specific NS tumors may also vary based on the patient’s cancer predisposition syndrome and may be used to guide therapy (i.e., immune checkpoint inhibitors in constitutional mismatch repair deficiency [CMMRD] predisposition syndrome) [8]. Early diagnosis of these cancer predisposition syndromes is therefore critical, in both unaffected and affected patients. Genetic counselors are uniquely trained master’s level healthcare providers with a focus on the identification of hereditary disorders, including hereditary cancer, or cancer predisposition syndromes. Genetic counseling, defined as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” plays a vital role in the adaptation to a genetic diagnosis and the overall management of these diseases. Cancer predisposition syndromes that increase risks for NS tumor development in childhood include classic neurocutaneous disorders like neurofibromatosis type 1 and type 2 (NF1, NF2) and tuberous sclerosis complex (TSC) type 1 and 2 (TSC1, TSC2). Li Fraumeni Syndrome, Constitutional Mismatch Repair Deficiency, Gorlin syndrome (Nevoid Basal Cell Carcinoma), Rhabdoid Tumor Predisposition syndrome, and Von Hippel-Lindau disease. Ataxia Telangiectasia will also be discussed given the profound neurological manifestations of this syndrome. In addition, there are other cancer predisposition syndromes like Cowden/PTEN Hamartoma Tumor Syndrome, DICER1 syndrome, among many others which also increase the risk of NS neoplasia and are briefly described. Herein, we discuss the NS tumor spectrum seen in the abovementioned cancer predisposition syndromes as with their respective germline genetic abnormalities and recommended surveillance guidelines when applicable. We conclude with a discussion of the importance and rationale for genetic counseling in these patients and their families.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

Health & Fitness
Education
Science

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month

Based on our best estimate, this website will receive around 7,642,828 visitors per month in the current month.

check SE Ranking
check Ahrefs
check Similarweb
check Ubersuggest
check Semrush

How Does Link.springer.com Make Money? {💸}

We're unsure how the site profits.

Not all websites are made for profit; some exist to inform or educate users. Or any other reason why people make websites. And this might be the case. Link.springer.com has a secret sauce for making money, but we can't detect it yet.

Keywords {🔍}

google, scholar, article, cancer, patients, syndrome, cas, tumors, tumor, neurofibromatosis, predisposition, type, genetic, mutations, cell, germline, clinical, gene, syndromes, surveillance, tuberous, sclerosis, system, diagnosis, brain, treatment, complex, med, disease, tsc, clin, nervous, manifestations, risk, symptoms, pediatric, repair, mutation, age, vhl, genet, mismatch, malignant, criteria, table, review, childhood, hippellindau, phase, subependymal,

Topics {✒️}

gov/drugs/resources-information-approved-drugs/fda-approves-belzutifan-cancers gov/publications/dictionaries/genetics-dictionary/def/cascade-screening org/content/91/vhla-suggested-active-surveillance-guide_lines-d-/ bojana borislavova pencheva hypoxia-inducible transcription factor hypoxia-inducible factor inhibitor multifaceted mismatch-repair system multi-society task force retro-orbital optic nerve von hippel–lindau syndrome von hippel-lindau syndrome von hippel-lindau disease von hippel-lindau disease von-hippel-lindau-disease high-grade cancerous behavior article google scholar fda approves belzutifan exclude lztr1-related schwannomatosis atypical teratoid/rhabdoid tumors peripheral nervous system full size table central nervous system bi-allelic pathogenic variants provide pre-test counseling neural system tumors pegylated interferon alfa-2b mismatch repair deficiency progressive low-grade glioma functioning/hearing ear begins peripheral nervous systems related subjects familial melanoma-astrocytoma syndrome lztr1-related schwannomatosis based neural system tumours biologically active product mismatch repair complex entire ink4/arf locus nervous system tumors nervous system origin germ-line p53 mutation international consensus group tumour suppressor gene high-risk pediatric cancer gov/books/nbk559193/ gov/books/nbk1463/ subependymal nodules transform map kinase–targeted therapies rubinstein-taybi syndrome caused privacy choices/manage cookies basal cell carcinomas

Questions {❓}

Spinal ependymomas in NF2: A surgical disease?
Gov/books/NBK1463/?

Schema {🗺️}

WebPage:
      mainEntity:
         headline:Nervous system (NS) Tumors in Cancer Predisposition Syndromes
         description:Genetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7–10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes. Specifically, the cancer predisposition rate in pediatric patients with NS tumors has been reported to be as high as 15%, though it can approach 50% in certain tumor types (i.e., choroid plexus carcinoma associated with Li Fraumeni Syndrome). Cancer predisposition syndromes are caused by pathogenic variation in genes that primarily function as tumor suppressors and proto-oncogenes. These variants are found in the germline or constitutional DNA. Mosaicism, however, can affect only certain tissues, resulting in varied manifestations. Increased understanding of the genetic underpinnings of cancer predisposition syndromes and the ability of clinical laboratories to offer molecular genetic testing allows for improvement in the identification of these patients. The identification of a cancer predisposition syndrome in a CNS tumor patient allows for changes to medical management to be made, including the initiation of cancer surveillance protocols. Finally, the identification of at-risk biologic relatives becomes feasible through cascade (genetic) testing. These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors of prognosis and survival. The treatment paradigm of specific NS tumors may also vary based on the patient’s cancer predisposition syndrome and may be used to guide therapy (i.e., immune checkpoint inhibitors in constitutional mismatch repair deficiency [CMMRD] predisposition syndrome) [8]. Early diagnosis of these cancer predisposition syndromes is therefore critical, in both unaffected and affected patients. Genetic counselors are uniquely trained master’s level healthcare providers with a focus on the identification of hereditary disorders, including hereditary cancer, or cancer predisposition syndromes. Genetic counseling, defined as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” plays a vital role in the adaptation to a genetic diagnosis and the overall management of these diseases. Cancer predisposition syndromes that increase risks for NS tumor development in childhood include classic neurocutaneous disorders like neurofibromatosis type 1 and type 2 (NF1, NF2) and tuberous sclerosis complex (TSC) type 1 and 2 (TSC1, TSC2). Li Fraumeni Syndrome, Constitutional Mismatch Repair Deficiency, Gorlin syndrome (Nevoid Basal Cell Carcinoma), Rhabdoid Tumor Predisposition syndrome, and Von Hippel-Lindau disease. Ataxia Telangiectasia will also be discussed given the profound neurological manifestations of this syndrome. In addition, there are other cancer predisposition syndromes like Cowden/PTEN Hamartoma Tumor Syndrome, DICER1 syndrome, among many others which also increase the risk of NS neoplasia and are briefly described. Herein, we discuss the NS tumor spectrum seen in the abovementioned cancer predisposition syndromes as with their respective germline genetic abnormalities and recommended surveillance guidelines when applicable. We conclude with a discussion of the importance and rationale for genetic counseling in these patients and their families.
         datePublished:2022-09-02T00:00:00Z
         dateModified:2022-09-02T00:00:00Z
         pageStart:1752
         pageEnd:1771
         sameAs:https://doi.org/10.1007/s13311-022-01277-w
         keywords:
            Brain tumor
            Cancer genetics
            Cancer predisposition syndromes
            Nervous system surveillance of genetic syndromes
            Neurosciences
            Neurology
            Neurosurgery
            Neurobiology
         image:
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs13311-022-01277-w/MediaObjects/13311_2022_1277_Fig1_HTML.png
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs13311-022-01277-w/MediaObjects/13311_2022_1277_Fig2_HTML.png
         isPartOf:
            name:Neurotherapeutics
            issn:
               1878-7479
               1933-7213
            volumeNumber:19
            type:
               Periodical
               PublicationVolume
         publisher:
            name:Springer International Publishing
            logo:
               url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
               type:ImageObject
            type:Organization
         author:
               name:Prabhumallikarjun Patil
               url:http://orcid.org/0000-0002-2855-1555
               affiliation:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                     address:
                        name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                        type:PostalAddress
                     type:Organization
                     name:Emory University School of Medicine
                     address:
                        name:Emory University School of Medicine, Atlanta, USA
                        type:PostalAddress
                     type:Organization
               email:[email protected]
               type:Person
               name:Bojana Borislavova Pencheva
               affiliation:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                     address:
                        name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                        type:PostalAddress
                     type:Organization
                     name:Emory University School of Medicine
                     address:
                        name:Emory University School of Medicine, Atlanta, USA
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Vinayak Mahesh Patil
               affiliation:
                     name:District Hospital Vijayapura
                     address:
                        name:Intensive Care Unit Medical Officer, District Hospital Vijayapura, Karnataka, India
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Jason Fangusaro
               affiliation:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                     address:
                        name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                        type:PostalAddress
                     type:Organization
                     name:Emory University School of Medicine
                     address:
                        name:Emory University School of Medicine, Atlanta, USA
                        type:PostalAddress
                     type:Organization
               type:Person
         isAccessibleForFree:1
         type:ScholarlyArticle
      context:https://schema.org
ScholarlyArticle:
      headline:Nervous system (NS) Tumors in Cancer Predisposition Syndromes
      description:Genetic syndromes which develop one or more nervous system (NS) tumors as one of the manifestations can be grouped under the umbrella term of NS tumor predisposition syndromes. Understanding the underlying pathological pathways at the molecular level has led us to many radical discoveries, in understanding the mechanisms of tumorigenesis, tumor progression, interactions with the tumor microenvironment, and development of targeted therapies. Currently, at least 7–10% of all pediatric cancers are now recognized to occur in the setting of genetic predisposition to cancer or cancer predisposition syndromes. Specifically, the cancer predisposition rate in pediatric patients with NS tumors has been reported to be as high as 15%, though it can approach 50% in certain tumor types (i.e., choroid plexus carcinoma associated with Li Fraumeni Syndrome). Cancer predisposition syndromes are caused by pathogenic variation in genes that primarily function as tumor suppressors and proto-oncogenes. These variants are found in the germline or constitutional DNA. Mosaicism, however, can affect only certain tissues, resulting in varied manifestations. Increased understanding of the genetic underpinnings of cancer predisposition syndromes and the ability of clinical laboratories to offer molecular genetic testing allows for improvement in the identification of these patients. The identification of a cancer predisposition syndrome in a CNS tumor patient allows for changes to medical management to be made, including the initiation of cancer surveillance protocols. Finally, the identification of at-risk biologic relatives becomes feasible through cascade (genetic) testing. These fundamental discoveries have also broadened the horizon of novel therapeutic possibilities and have helped to be better predictors of prognosis and survival. The treatment paradigm of specific NS tumors may also vary based on the patient’s cancer predisposition syndrome and may be used to guide therapy (i.e., immune checkpoint inhibitors in constitutional mismatch repair deficiency [CMMRD] predisposition syndrome) [8]. Early diagnosis of these cancer predisposition syndromes is therefore critical, in both unaffected and affected patients. Genetic counselors are uniquely trained master’s level healthcare providers with a focus on the identification of hereditary disorders, including hereditary cancer, or cancer predisposition syndromes. Genetic counseling, defined as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” plays a vital role in the adaptation to a genetic diagnosis and the overall management of these diseases. Cancer predisposition syndromes that increase risks for NS tumor development in childhood include classic neurocutaneous disorders like neurofibromatosis type 1 and type 2 (NF1, NF2) and tuberous sclerosis complex (TSC) type 1 and 2 (TSC1, TSC2). Li Fraumeni Syndrome, Constitutional Mismatch Repair Deficiency, Gorlin syndrome (Nevoid Basal Cell Carcinoma), Rhabdoid Tumor Predisposition syndrome, and Von Hippel-Lindau disease. Ataxia Telangiectasia will also be discussed given the profound neurological manifestations of this syndrome. In addition, there are other cancer predisposition syndromes like Cowden/PTEN Hamartoma Tumor Syndrome, DICER1 syndrome, among many others which also increase the risk of NS neoplasia and are briefly described. Herein, we discuss the NS tumor spectrum seen in the abovementioned cancer predisposition syndromes as with their respective germline genetic abnormalities and recommended surveillance guidelines when applicable. We conclude with a discussion of the importance and rationale for genetic counseling in these patients and their families.
      datePublished:2022-09-02T00:00:00Z
      dateModified:2022-09-02T00:00:00Z
      pageStart:1752
      pageEnd:1771
      sameAs:https://doi.org/10.1007/s13311-022-01277-w
      keywords:
         Brain tumor
         Cancer genetics
         Cancer predisposition syndromes
         Nervous system surveillance of genetic syndromes
         Neurosciences
         Neurology
         Neurosurgery
         Neurobiology
      image:
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs13311-022-01277-w/MediaObjects/13311_2022_1277_Fig1_HTML.png
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs13311-022-01277-w/MediaObjects/13311_2022_1277_Fig2_HTML.png
      isPartOf:
         name:Neurotherapeutics
         issn:
            1878-7479
            1933-7213
         volumeNumber:19
         type:
            Periodical
            PublicationVolume
      publisher:
         name:Springer International Publishing
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Prabhumallikarjun Patil
            url:http://orcid.org/0000-0002-2855-1555
            affiliation:
                  name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                  address:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                     type:PostalAddress
                  type:Organization
                  name:Emory University School of Medicine
                  address:
                     name:Emory University School of Medicine, Atlanta, USA
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
            name:Bojana Borislavova Pencheva
            affiliation:
                  name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                  address:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                     type:PostalAddress
                  type:Organization
                  name:Emory University School of Medicine
                  address:
                     name:Emory University School of Medicine, Atlanta, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Vinayak Mahesh Patil
            affiliation:
                  name:District Hospital Vijayapura
                  address:
                     name:Intensive Care Unit Medical Officer, District Hospital Vijayapura, Karnataka, India
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Jason Fangusaro
            affiliation:
                  name:Children’s Healthcare of Atlanta, Aflac Cancer Center
                  address:
                     name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
                     type:PostalAddress
                  type:Organization
                  name:Emory University School of Medicine
                  address:
                     name:Emory University School of Medicine, Atlanta, USA
                     type:PostalAddress
                  type:Organization
            type:Person
      isAccessibleForFree:1
["Periodical","PublicationVolume"]:
      name:Neurotherapeutics
      issn:
         1878-7479
         1933-7213
      volumeNumber:19
Organization:
      name:Springer International Publishing
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center
      address:
         name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
         type:PostalAddress
      name:Emory University School of Medicine
      address:
         name:Emory University School of Medicine, Atlanta, USA
         type:PostalAddress
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center
      address:
         name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
         type:PostalAddress
      name:Emory University School of Medicine
      address:
         name:Emory University School of Medicine, Atlanta, USA
         type:PostalAddress
      name:District Hospital Vijayapura
      address:
         name:Intensive Care Unit Medical Officer, District Hospital Vijayapura, Karnataka, India
         type:PostalAddress
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center
      address:
         name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
         type:PostalAddress
      name:Emory University School of Medicine
      address:
         name:Emory University School of Medicine, Atlanta, USA
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Prabhumallikarjun Patil
      url:http://orcid.org/0000-0002-2855-1555
      affiliation:
            name:Children’s Healthcare of Atlanta, Aflac Cancer Center
            address:
               name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
               type:PostalAddress
            type:Organization
            name:Emory University School of Medicine
            address:
               name:Emory University School of Medicine, Atlanta, USA
               type:PostalAddress
            type:Organization
      email:[email protected]
      name:Bojana Borislavova Pencheva
      affiliation:
            name:Children’s Healthcare of Atlanta, Aflac Cancer Center
            address:
               name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
               type:PostalAddress
            type:Organization
            name:Emory University School of Medicine
            address:
               name:Emory University School of Medicine, Atlanta, USA
               type:PostalAddress
            type:Organization
      name:Vinayak Mahesh Patil
      affiliation:
            name:District Hospital Vijayapura
            address:
               name:Intensive Care Unit Medical Officer, District Hospital Vijayapura, Karnataka, India
               type:PostalAddress
            type:Organization
      name:Jason Fangusaro
      affiliation:
            name:Children’s Healthcare of Atlanta, Aflac Cancer Center
            address:
               name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
               type:PostalAddress
            type:Organization
            name:Emory University School of Medicine
            address:
               name:Emory University School of Medicine, Atlanta, USA
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
      name:Emory University School of Medicine, Atlanta, USA
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
      name:Emory University School of Medicine, Atlanta, USA
      name:Intensive Care Unit Medical Officer, District Hospital Vijayapura, Karnataka, India
      name:Children’s Healthcare of Atlanta, Aflac Cancer Center, Atlanta, USA
      name:Emory University School of Medicine, Atlanta, USA

External Links {🔗}(323)

Analytics and Tracking {📊}

Google Tag Manager

Libraries {📚}

Clipboard.js
Prism.js

CDN Services {📦}

Crossref

5.11s.

LINK . SPRINGER . COM {}