Malformations, genetic abnormalities, and wilms tumor

Dumoucel, Sophie; Gauthier‐Villars, Marion; Stoppa‐Lyonnet, Dominique; Parisot, Pauline; Brisse, H.; Philippe‐Chomette, Pascale; Sarnacki, Sabine; Boccon‐Gibod, Liliane; Rossignol, Sylvie; Baumann, Clarisse; Aerts, Isabelle; Bourdeaut, Franck; Doz, François; Orbach, Daniel; Pacquement, Hélène; Michon, Jean; Schleiermacher, Gudrun

doi:10.1002/pbc.24709

Cited by 59 publications

(45 citation statements)

References 25 publications

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“…Children with genetic alterations at the WT1 and WT2 loci are more likely to present with bilateral or familial WT . Additional associations between WT and congenital anomalies, syndromes, and constitutional chromosomal aberrations have been described previously . Screening with ultrasound every 3 months until at least age 8 years is recommended for children with congenital anomalies and syndromes associated with a significantly increased risk of WT…”

Section: Information For Selected Cancer Sitesmentioning

confidence: 99%

“…73 Additional associations between WT and congenital anomalies, syndromes, and constitutional chromosomal aberrations have been described previously. 75,76 Screening with ultrasound every 3 months until at least age 8 years is recommended for children with congenital anomalies and syndromes associated with a significantly increased risk of WT. 73 The majority of children with WT present with an asymptomatic abdominal mass that is incidentally noted while bathing or dressing the child.…”

Section: Wilms Tumormentioning

confidence: 99%

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Childhood and adolescent cancer statistics, 2014

Ward

DeSantis

Robbins

et al. 2014

CA A Cancer J Clinicians

2,042

1,564

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In this article, the American Cancer Society provides estimates of the number of new cancer cases and deaths for children and adolescents in the United States and summarizes the most recent and comprehensive data on cancer incidence, mortality, and survival from the National Cancer Institute, the Centers for Disease Control and Prevention, and the North American Association of Central Cancer Registries (which are reported in detail for the first time here and include high-quality data from 45 states and the District of Columbia, covering 90% of the US population). In 2014, an estimated 15,780 new cases of cancer will be diagnosed and 1960 deaths from cancer will occur among children and adolescents aged birth to 19 years. The annual incidence rate of cancer in children and adolescents is 186.6 per 1 million children aged birth to 19 years. Approximately 1 in 285 children will be diagnosed with cancer before age 20 years, and approximately 1 in 530 young adults between the ages of 20 and 39 years is a childhood cancer survivor. It is therefore likely that most pediatric and primary care practices will be involved in the diagnosis, treatment, and follow-up of young patients and survivors. In addition to cancer statistics, this article will provide an overview of risk factors, symptoms, treatment, and long-term and late effects for common pediatric cancers.

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Section: Information For Selected Cancer Sitesmentioning

confidence: 99%

Section: Wilms Tumormentioning

confidence: 99%

Childhood and adolescent cancer statistics, 2014

Ward

DeSantis

Robbins

et al. 2014

CA A Cancer J Clinicians

2,042

1,564

View full text Add to dashboard Cite

show abstract

“…Overall, WT1 germline mutations (either somatic only or inherited) are found in up to 11% of occurrences of WT (1,54,55). The median age of WT diagnosis is around 1 year of age in WT1- affected individuals, about 2–3 years earlier than the age of WT diagnosis in children without a germline WT1 mutation.…”

Section: Genetic Summarymentioning

confidence: 99%

“…Renal tumors, typically Wilms tumors (WT), are reported in a number of these disorders with variable frequencies ranging from 1–90%. Clinically identified malformations and syndromes account for almost 18% of WT (1). Additionally, several syndromes also have an increased risk for hepatoblastoma (HB).…”

Section: Introductionmentioning

confidence: 99%

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Kalish

Doros

Helman

et al. 2017

Clinical Cancer Research

165

150

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A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB) and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop these tumors and recommend uniform tumor screening recommendations for North America. Specifically, for syndromes with increased risk for WT, we recommend renal ultrasounds every 3 months from birth (or the time of diagnosis) through the 7th birthday. For HB, we recommend screening with full abdominal ultrasound and alpha-fetoprotein serum measurements every 3 months from birth (or the time of diagnosis) through the 4th birthday. We recommend that when possible, these patients be evaluated and monitored by cancer predisposition specialists. At this time, these recommendations are not based on the differential risk between different genetic or epigenetic causes for each syndrome, which some European centers have implemented. This differentiated approach largely represents distinct practice environments between the United States and Europe and these guidelines are designed to be a broad framework within which physicians and families can work together to implement specific screening. Further study is expected to lead to modifications of these recommendations.

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“…Wilms tumor (WT) is the most common pediatric renal malignancy, with an incidence of 7.5 per million children aged <15 years . Several genetic conditions contribute to WT risk including germline WT1 ‐related disorders (11p13 partial deletions, pathogenic variants involving the WT1 gene) and overgrowth syndromes, most frequently Beckwith‐Wiedemann syndrome (BWS) . WT has also been reported in other conditions such as Perlman syndrome, PIK3CA‐related disorders, DICER1 syndrome, and Fanconi anemia .…”

Section: Introductionmentioning

confidence: 99%

An eHealth decision‐support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor

Cullinan

Villani

Mourad

et al. 2019

Intl Journal of Cancer

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Over 10% of children with Wilms tumor (WT) have an underlying cancer predisposition syndrome (CPS). Cognizant of increasing demand for genetic evaluation and limited resources across health care settings, there is an urgent need to rationalize genetic referrals for this population. The McGill Interactive Pediatric OncoGenetic Guidelines study, a Canadian multi‐institutional initiative, aims to develop an eHealth tool to assist physicians in identifying children at elevated risk of having a CPS. As part of this project, a decisional algorithm specific to WT consisting of five tumor‐specific criteria (age <2 years, bilaterality/multifocality, stromal‐predominant histology, nephrogenic rests, and overgrowth features) and universal criteria including features of family history suspicious for CPS and congenital anomalies, was developed. Application of the algorithm generates a binary recommendation—for or against genetic referral for CPS evaluation. To evaluate the algorithm's sensitivity for CPS identification, we retrospectively applied the tool in consecutive pediatric patients (n = 180) with WT, diagnosed and/or treated at The Hospital for Sick Children (1997–2016). Odds ratios were calculated to evaluate the strengths of associations between each criterion and specific CPS subtypes. Application of the algorithm identified 100% of children with WT and a confirmed CPS (n = 27). Age <2 years, bilaterality/multifocality, and congenital anomalies were strongly associated with pathogenic variants in WT1. Presence of >1 overgrowth feature was strongly associated with Beckwith‐Wiedemann syndrome. Stromal‐predominant histology did not contribute to CPS identification. We recommend the incorporation of the WT algorithm in the routine assessment of children with WT to facilitate prioritization of genetic referrals in a sustainable manner.

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Malformations, genetic abnormalities, and wilms tumor

Cited by 59 publications

References 25 publications

Childhood and adolescent cancer statistics, 2014

Childhood and adolescent cancer statistics, 2014

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

An eHealth decision‐support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor

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