How I approach hereditary cancer predisposition in a child with cancer

Abstract

Approximately 10% of all children with cancer are affected by a monogenic cancer predisposition syndrome. This has important implications for both the child and her/his family. The assessment of hereditary cancer predisposition is a challenging task for clinicians and genetic counselors in daily routine. It includes consideration of tumor genetics, specific features of the patient, and the medical/family history. To keep up with the pace of this rapidly evolving and increasingly complex field of genetic susceptibility, we suggest a systematic approach for the evaluation of the child with cancer and her/his family by an interdisciplinary team specialized in hereditary cancer predisposition.

A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults

“…Facing recent advances in and the expanded use of massively parallel sequencing and the rapidly increasing literature on CPS, clinician awareness, identification of and referral rates to genetic testing of AYAs, however, are still suboptimal. Several clinical practice guidelines for CPS evaluation have been published to assist physicians in recognizing patients in daily routine [ 6 , 7 , 37 ]. Evaluation of AYAs, however, has yet not been established in daily practice.…”

A mismatched syndrome: A five‐year‐old girl with very‐high‐risk leukemia and Lynch syndrome

“…Family history has historically been important when considering hereditary cancers; however, Kuhlen et al also emphasize the evaluation of the patient's personal cancer history and treatment course. 1 Pathogenic variants (PV) in the mismatch-repair (MMR) complex result in either Lynch syndrome (LS) or constitutional mismatch-repair deficiency (CMMRD), both of which predispose patients to malignancies. The MMR complex is responsible for single-stranded DNA repair primarily during the G 2 phase of the cell cycle.…”

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

“…It remains worthwhile, however, to screen individuals with RTPS, for MRT as well as for other manifestations (e.g., schwannomas, meningiomas, MPNST) [ 68 , 69 ]. A practical approach includes physical examinations every 6 to 12 months with targeted imaging for symptomatic areas (e.g., neurologic deficit, change in physical features, menstrual disturbances), ideally in the setting of a tumor predisposition clinic [ 70 ]. CNS MRI and ultrasonography may be discussed.…”