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Screening of cancer predisposition syndromes.
Al-Sarhani, Haifa; Gottumukkala, Ravi V; Grasparil, Angelo Don S; Tung, Eric L; Gee, Michael S; Greer, Mary-Louise C.
Afiliação
  • Al-Sarhani H; Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
  • Gottumukkala RV; Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.
  • Grasparil ADS; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Tung EL; Department of Radiological Sciences, Cardinal Santos Medical Center, San Juan City, Philippines.
  • Gee MS; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Greer MC; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Pediatr Radiol ; 52(2): 401-417, 2022 Feb.
Article em En | MEDLINE | ID: mdl-33791839
ABSTRACT
Pediatric patients with cancer predisposition syndromes are at increased risk of developing malignancies compared with their age-matched peers, necessitating regular surveillance. Screening protocols differ among syndromes and are composed of a number of elements, imaging being one. Surveillance can be initiated in infants, children and adolescents with a tumor known or suspected of being related to a cancer predisposition syndrome or where genetic testing identifies a germline pathogenic gene variant in an asymptomatic child. Pre-symptomatic detection of malignant neoplasms offers potential to improve treatment options and survival outcomes, but the benefits and risks of screening need to be weighed, particularly with variable penetrance in many cancer predisposition syndromes. In this review we discuss the benefits and risks of surveillance imaging and the importance of integrating imaging and non-imaging screening elements. We explore the principles of surveillance imaging with particular reference to whole-body MRI, considering the strategies to minimize false-negative and manage false-positive whole-body MRI results, the value of standardized nomenclature when reporting risk stratification to better guide patient management, and the need for timely communication of results to allay anxiety. Cancer predisposition syndrome screening is a multimodality, multidisciplinary and longitudinal process, so developing formalized frameworks for surveillance imaging programs should enhance diagnostic performance while improving the patient experience.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Detecção Precoce de Câncer / Neoplasias Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Adolescent / Child / Humans / Infant Idioma: En Revista: Pediatr Radiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Detecção Precoce de Câncer / Neoplasias Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Adolescent / Child / Humans / Infant Idioma: En Revista: Pediatr Radiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá