Genitourinary manifestations of hereditary cancer predisposition syndromes in children

Abstract

Predispostion to Wilms tumorWilms tumor, or nephroblastoma, represents ~90% of all pediatric renal tumors (5) and affects 1:10,000 children less than 15 years of age (6). Wilms tumor is an embryonal tumor that arises in a kidney cell with pluripotent differentiation potential. Most cases are unilateral (95%), sporadic, and curable with nephrectomy. Chemotherapy and radiation are also utilized in certain situations. In contrast, Wilms tumor associated with a cancer predisposition syndrome tends to occur at an earlier age and is more often associated with bilateral disease. The median age of diagnosis of patients with a Wilms tumor is 38 months, Review Article on Pediatric Urologic Malignancies

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

“…CPSs have significant health and developmental impacts. The presence of CPS can lead to changes in cancer treatment regimen and the need for surveillance due to an increased risk of developing additional primary malignancies [ 129 , 130 ]. Newborns may inherit the CPS germline, highlighting the importance of genetic testing and counseling for potential carriers [ 129 , 130 ].…”

“…The presence of CPS can lead to changes in cancer treatment regimen and the need for surveillance due to an increased risk of developing additional primary malignancies [ 129 , 130 ]. Newborns may inherit the CPS germline, highlighting the importance of genetic testing and counseling for potential carriers [ 129 , 130 ]. Additionally, CPSs can encompass non-cancer-related problems, such as behavioral or immunologic disorders, that require specific attention and care [ 129 ].…”

“…Newborns may inherit the CPS germline, highlighting the importance of genetic testing and counseling for potential carriers [ 129 , 130 ]. Additionally, CPSs can encompass non-cancer-related problems, such as behavioral or immunologic disorders, that require specific attention and care [ 129 ]. The complex clinical management of CPSs necessitates a multidisciplinary team with specific training.…”

“…More studies revealed that about 10% of pediatric oncology patients have an underlying CPS, most often arising from germline mutations in tumor suppressor genes [ 60 ]. The genetic risk factors for pediatric cancer predisposition syndromes are highly constrained, indicating selective mutational pressure on these genes [ 129 ]. It is well reported that 10–18% of pediatric cancer patients have an underlying genetic susceptibility to their disease, and with the advancement in genomic technologies, more genes and syndromes associated with cancer predisposition are being discovered [ 132 ].…”