Buchumschlag

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of in...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Hettmer, Simone (VerfasserIn) , Dachy, Guillaume (VerfasserIn) , Seitz, Guido (VerfasserIn) , Agaimy, Abbas (VerfasserIn) , Duncan, Catriona (VerfasserIn) , Jongmans, Marjolijn (VerfasserIn) , Hirsch, Steffen (VerfasserIn) , Kventsel, Iris (VerfasserIn) , Kordes, Uwe (VerfasserIn) , Krijger, Ronald R. de (VerfasserIn) , Metzler, Markus (VerfasserIn) , Michaeli, Orli (VerfasserIn) , Nemes, Karolina (VerfasserIn) , Poluha, Anna (VerfasserIn) , Ripperger, Tim (VerfasserIn) , Russo, Alexandra (VerfasserIn) , Smetsers, Stephanie (VerfasserIn) , SparberSauer, Monika (VerfasserIn) , Stutz, Eveline (VerfasserIn) , Bourdeaut, Franck (VerfasserIn) , Kratz, Christian Peter (VerfasserIn) , Demoulin, JeanBaptiste (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2021
In: Familial cancer
Year: 2021, Jahrgang: 20, Heft: 4, Pages: 327336
ISSN:15737292
DOI:10.1007/s10689-020-00204-2
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10689-020-00204-2
Verlag, lizenzpflichtig, Volltext: https://link.springer.com/article/10.1007/s10689-020-00204-2
Volltext
Verfasserangaben:Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, Jean-Baptiste Demoulin
Beschreibung
Zusammenfassung:Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesions. PDGFRB variants associated with IM constitutively activate PDGFRB kinase activity in the absence of its ligand. Germline variants have lower activating capabilities than somatic variants and, thus, require a second cis-acting hit for full receptor activation. Typically, these mutant receptors remain sensitive to tyrosine kinase inhibitors such as imatinib. The SIOPE Host Genome Working Group, consisting of pediatric oncologists, clinical geneticists and scientists, met in January 2020 to discuss recommendations for genetic testing and surveillance for patients who are diagnosed with IM or have a family history of IM/PDGFRB germline variants. This report provides a brief review of the clinical manifestations and genetics of IM and summarizes our interdisciplinary recommendations.
Beschreibung:Online publiziert: 5. September 2020
Gesehen am 30.10.2025
Beschreibung:Online Resource
ISSN:15737292
DOI:10.1007/s10689-020-00204-2

Ähnliche Einträge