Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
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Published:2021-06-25
Issue:4
Volume:20
Page:337-348
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ISSN:1389-9600
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Container-title:Familial Cancer
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language:en
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Short-container-title:Familial Cancer
Author:
Bakhuizen Jette J.ORCID, Hanson Helen, van der Tuin Karin, Lalloo Fiona, Tischkowitz Marc, Wadt Karin, Jongmans Marjolijn C. J., Dörgeloh Beate B., Farah Roula A., Glentis Stavros, Golmard Lisa, Hoyer Juliane, Jahnukainen Kirsi, Jewell Rosalyn, Karow Axel, Katsibardi Katharina, Kuhlen Michaela, Meinhardt Andrea, Nemes Karolina, Poluha Anna, Ripperger Tim, Waespe Nicolas, Adlard Julian, Ahmed Munaza, Brennan Bernadette, Dabir Tabib, Evans D. Gareth, Kelsey Anna, Kohut Kelly, Kulkarni Anju, Murray Alex, Ong Kai Ren, Penn Anthony, Semple Thomas, Woodward Emma R., van Leeuwaarde Rachel S., Littooij Annemieke S., Merks Johannes H. M., Rasmussen Åse K., van Santen Hanneke M., Smetsers Stephanie E., , ,
Abstract
AbstractDICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance, and appraisal of potential benefits and harms vary. In addition, there is increasing evidence that germline DICER1 pathogenic variants are associated with lower penetrance for cancer than previously assumed. To address these issues and to harmonize DICER1 syndrome surveillance programs within Europe, the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) and Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom reviewed current surveillance strategies and evaluated additional relevant literature. Consensus was achieved for a new surveillance protocol and information leaflet that informs patients about potential symptoms of DICER1-associated tumors. The surveillance protocol comprises a minimum program and an extended version for consideration. The key recommendations of the minimum program are: annual clinical examination from birth to age 20 years, six-monthly chest X-ray and renal ultrasound from birth to age 6 years, and thyroid ultrasound every 3 years from age 8 to age 40 years. The surveillance program for consideration comprises additional surveillance procedures, and recommendations for DICER1 pathogenic variant carriers outside the ages of the surveillance interval. Patients have to be supported in choosing the surveillance program that best meets their needs. Prospective evaluation of the efficacy and patient perspectives of proposed surveillance recommendations is required to expand the evidence base for DICER1 surveillance protocols.
Funder
Stichting Kinderen Kankervrij Cancer Research UK Manchester Biomedical Research Centre
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics(clinical),Oncology,Genetics
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