Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Autor: J. J. Bakhuizen, Marc Tischkowitz, Karin van der Tuin, Helen Hanson, Fiona Lalloo, Marjolijn C.J. Jongmans, Karin Wadt
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Familial Cancer
Bakhuizen, J J, Hanson, H, van der Tuin, K, Lalloo, F, Tischkowitz, M, Wadt, K, Jongmans, M C J, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group & Expert Network Members 2021, ' Surveillance recommendations for DICER1 pathogenic variant carriers : a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group ', Familial Cancer, vol. 20, no. 4, pp. 337-348 . https://doi.org/10.1007/s10689-021-00264-y
ISSN: 1573-7292
1389-9600
DOI: 10.1007/s10689-021-00264-y
Popis: DICER1 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.
Databáze: OpenAIRE
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