Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice

Abstract

There is strong evidence for an association between overgrowth disorders such as Beckwith-Wiedemann syndrome and the development of neoplasia. An increased cancer risk has also been observed in individuals with isolated hemihyperplasia. We critically review the evidence for tumour surveillance in Beckwith-Wiedemann syndrome and isolated hemihyperplasia and suggest local practice guidelines.

Beckwith–Wiedemann syndrome

“…Guidelines for the intervals between AFP assays vary between 2 and 3 months. 11,31,58 It should be noted that AFP levels tend to be increased in infants with BWS. 59 In the event of an increased AFP level, a repeat study should be undertaken in 4 weeks along with baseline liver function studies and correlation with abdominal imaging.…”

“…As the risk for neuroblastoma is small, specific surveillance including quarterly urine catecholamines and annual chest X-ray is not currently recommended but rather is left to the discretion of the responsible physician. 11 Tumor surveillance is recommended for the apparently unaffected monozygotic co-twin (determined by molecular testing) of a child with BWS even in the absence of any clinical stigmata or a negative molecular test result in the co-twin. This is primarily indicated because of possible somatic mosaicism in the normal cotwin or seeding of BWS positive cells in the normal co-twin secondary to common vascular anastomoses in utero.…”

“…11,[54][55][56] Abdominal ultrasounds are used to assess kidneys, liver, pancreas, and adrenal glands; in many centers this is undertaken quarterly to the age of 8 years. 56 In the event that ultrasound imaging shows a suspicious finding, for example, a lesion possibly representing a hemangioma, computed tomography or magnetic resonance imaging would be indicated for better resolution.…”

“…[12][13][14] The overall risk for tumor development in children with BWS has been estimated at 7.5% with a range of risk estimates between 4 and 21%. 3,[10][11][12]13,[15][16][17] Clinical findings associated with higher risks of tumor development include hemihyperplasia, nephromegaly, and nephrogenic rests. 10,18 Although different molecular subgroups have been shown to be associated with different tumor rates and tumor profiles, 19,[20][21][22][23][24] further clinical studies are needed to validate these data before implementing stratified surveillance protocols.…”

Isolated Hemihypertrophy (Hemihyperplasia): A case report and review of the literature

“…Ayrı-ca İHH'li hastaların BWS'lu hastalara göre daha az tümör riskine sahip olduğu belirtilmiştir. 6 Epigenetik inceleme tümör riskini belirlemede faydalı olabilir. BWS ve İHH'de artmış abdominal tümör insidansı 11p15 kromozomundaki paternal uniparental disomy (pUPD) ve H19 metilasyon defekti ile ilişkili bulunmuş-tur.…”