Chapter 14 Beckwith Wiedemann Syndrome

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1 Chapter 14 Beckwith Wiedemann Syndrome Michael DeBaun and Jennifer Horst Beckwith-Wiedemann syndrome (BWS) (OMIM ) is a disease of prenatal overgrowth, congenital malformations, and predisposition to cancer. The syndrome was independently described by J.B. Beckwith, an American pathologist, at the annual meeting of the Western Society for Pediatric Research in 1963 [1] and H.R. Wiedemann, a German pediatrician, in 1964 [2]. This disease was initially referred to as the EMG syndrome for its most prominent clinical features that distinguished the syndrome from other congenital malformations: exomphalos, macroglossia, and gigantism. Beckwith also emphasized the pathological finding of cytomegaly of the adrenal cortex [3]. Children with BWS are 600 times more likely than other children to develop certain childhood cancers, particularly Wilms tumor, hepatoblastoma, neuroblastoma, and adrenocortical carcinoma. Evidence reveals an increased risk for cancer during childhood (especially before age four); however, less data are available to document the risk of cancer in adults. BWS is one of the most commonly recognized overgrowth syndromes. However, the exact incidence of BWS is unknown because of the marked variability in the syndrome s presentation and the lack of widely accepted diagnosis criteria. The number of reported infants born with BWS most likely underestimates the real prevalence, because clinical features may be subtle and often missed. BWS has been documented in a variety of ethnic groups and occurs equally in males and females. It has been estimated to occur in approximately 1 in 13,700 live births [4] or 300 children in the United States each year Diagnosis Infants with BWS may have multiple congenital anomalies, including macroglossia, macrosomia, midline abdominal wall defects (omphalocele, diastasis recti, and umbilical hernia), ear pits or creases, and neonatal hypoglycemia. A consensual M. DeBaun (B) Division of Pediatric Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, Box 8067, St. Louis, MO , USA debaun_m@kids.wustl.edu G.D. Hammer, T. Else (eds.), Adrenocortical Carcinoma, DOI / _14, C Springer Science+Business Media, LLC

2 228 M. DeBaun and J. Horst clinical definition for BWS has been challenged by the lack of standard diagnostic criteria that have been independently verified in patients who have either genetic or epigenetic mutations. In an attempt to standardize the classification of BWS, DeBaun et al. defined a patient as having BWS when a clinical diagnosis of BWS is made by a physician in a child with at least two of the five common features associated with BWS (macroglossia, macrosomia, midline abdominal wall defects, ear creases/ear pits, neonatal hypoglycemia) [5]. When these diagnostic criteria were used for The BWS Registry at the National Cancer Institute (NCI) and correlated with molecular analyses, approximately 7 of 10 clinically defined cases of BWS had evidence of genetic or epigenetic mutations [5]. These findings suggest that other genetic or epigenetic mutations not yet identified are responsible for the disease in approximately one third of children with BWS. An alternative definition of BWS was introduced by Elliot et al. who classified BWS by the presence of either three major features (anterior abdominal wall defect, macroglossia, or pre- and or post-natal overgrowth (>90th centile)) or two major plus three minor findings (ear pits, nevus flammeus, neonatal hypoglycemia, nephromegaly, or hemihyperplasia) [6]. To date there has not been a clinical study correlating the clinical definition of BWS as defined by Elliot with a known genetic or epigenetic mutations associated with BWS. Given the variation among individuals with BWS and the lack of a simple diagnostic test, identifying BWS can be difficult Clinical Features The BWS Registry was established in 1994 at the Genetic Epidemiology Branch of the National Cancer Institute (NCI). In the BWS Registry, only 13% of the children had all five of the most common features associated with BWS. Based on the data from the BWS Registry, the most common clinical or laboratory features associated withbwsareshownintable14.1 [5]. Other features of BWS include craniofacial abnormalities with prominent occiput, maxillary hypoplasia with a broad nasal bridge, and nevus flammeus of the head. Premature infants with BWS may initially have normal facial features, but later develop macroglossia and other facial features associated with BWS [7]. Asymmetry of the extremities or face with or without cleft lip or palate has also been reported in children with BWS. In a study by Gerber et al., asymmetry of length or girth was defined as greater than 10% discrepancy between the right and left sides [8]. Asymmetric overgrowth of the limbs, trunk, face, cranium, or entire body is known as hemihyperplasia, which can occur as an isolated finding or in association with several malformation syndromes. Children with BWS can have asymmetry of the limbs or face, as well as joint laxity, scoliosis, and thoracic cage abnormalities [8]; these features were best characterized in a study of 388 children with BWS where the rate of hemihypertrophy was 12.5% [9].

3 14 Beckwith Wiedemann Syndrome 229 Table 14.1 Clinical features associated with BWS Clinical finding Observed incidence (%) Macroglossia 94 Abdominal wall defects 74 Ear pits or ear grooves 68 Hemangiomas, nevus flammeus 63 Neonatal hypoglycemia 52 Born premature 50 Undescended testes 44 Polyhydramnios during pregnancy 43 Hearing loss 12 Cliteromegaly 9 Hypospadias 8 Significant hypoglycemia beyond the neonatal period 4 Another striking feature of BWS as reported by Beckwith in his first case series description, is adrenocortical cytomegaly, which is almost invariably present in BWS patient autopsies [10, 11]. The cause of adrenal cytomegaly is unknown, but the feature is shared with other syndromes, such as adrenal hypoplasia congenita (AHC) with cytomegaly with hypogonadototropic hypogonadism caused by DAX1 mutations. AHC with cytomegaly is also a main clinical characteristic of the IMAGe syndrome and can be found associated with other congenital abnormalities (e.g., monochromosome 7 syndrome) or as an incidental finding in pediatric autopsies, where it can globally or focally affect the adrenal cortex. Mainly because of the occurrence in pediatric cases and because of the resemblance of the adrenal cytomegaly to fetal adrenocortical cells, some authors have favored the theory that adrenocortical cytomegaly may represent complete or focal persistence of fetal adrenocortical cells. Currently there is no proof for this theory and certainly other explanations can be entertained. While it is unknown whether adrenal cytomegaly results in changes of adrenocortical function in BWS patients, in view of the lack of reported adrenal insufficiency or overt hyperfunction of the adrenal cortex (in the absence of adrenocortical carcinoma (ACC)), such an association appears unlikely. Studies have found that isolated hemihyperplasia (IH) is an independent risk factor for the development of cancer during childhood [12]. Given the clinical overlap of IH with BWS and the high rate of cancer in patients with IH, children with IH are currently counseled to receive the same cancer screening recommendation as patients with BWS. Despite similarities between BWS and IH, it remains unclear whether these two syndromes represent differing phenotypes of the same genotype or are these two separate syndromes with different genotypes. While some data suggest that IH may simply reflect the tail end of a spectrum of methylation defects in the BWS clinical continuum [13], Neimitz et al. demonstrated that children with IH and BWS with Wilms tumor had different epigenotype changes [14]. Specifically, children with IH and Wilms tumor have a much lower frequency of H19 mutations, 20% (3/15) compared to 79% (11/14) in children with

4 230 M. DeBaun and J. Horst BWS and Wilms tumor, this is consistent with a hypothesis that IH is the result of a different genetic or epigenetic mutation than BWS but acts in a common causal molecular pathway. However, data published by Martin et al. suggested that children with IH may reflect cases at the tail end of the spectrum of methylation defects in the BWS clinical continuum [13]. Together these data suggest that there are two groups of children with IH: the first group represents part of the BWS spectrum while the second group is genetically distinct from BWS. Children with BWS can present both malignant and nonmalignant manifestations of renal disease. Wilms tumor and nephroblastomatosis are the malignant and premalignant manifestations of renal disease in children with BWS. Nonmalignant renal disease, such as multiple caliceal cysts or diverticulae, hydronephrosis, and medullary cysts, can be confused with Wilms tumor and/or nephroblastomatosis. In 152 patients with BWS, 45 nonmalignant renal abnormalities were identified: medullary cysts (13%), caliceal diverticulae (1%), hydronephrosis (12%), and nephrolithiasis (6.4%) [15]. The incidence and rate of progression of these nonmalignant renal conditions is unknown; although, several patients in the BWS Registry developed ESRD Genetics The genetic causes of BWS are extremely complex and include various cytogenetic, molecular, and epigenetic alterations in chromosomal band 11p15 [16]. Although chromosomal rearrangement and genetic mutations on 11p15 are associated with BWS, the majority of alterations (>70%) observed in patients with BWS involve errors in gene imprinting and methylation in one of the two 11p15 domains [5]. Epigenetic modifications in the following six genes located on 11p15 have been observed in patients with BWS: insulin-like growth factor 2 (IGF2) and H19 in one domain and LIT1, CDKN1C (also called p57kip2), and KvLQT1 in the other domain (Fig. 14.1). Over five distinct errors involving 11p15 have been identified among patients with BWS. These include (1) abnormal methylation of LIT1, (2) abnormal methylation of H19 with reciprocal biallele expression of IGF2, (3) paternal uniparental disomy (UPD) of 11p15, (4) abnormal methylation of both LIT1 and H19 with no UPD and (5) CDKN1C gene mutation. While transmission to future offspring is a concern expressed by most family members and patients, (due to the range of mutations that are responsible for BWS, as well as the significant proportion of patients with no definable mutation) inheritance of BWS is not easily evaluated. Wangler et al. did not find evidence to support an autosomal dominant inheritance pattern [17], although some families had a pattern of inheritance suggestive of autosomal dominance. Because all known cases of UPD involve somatic mosaicism, only when a child with BWS has UPD can the family of a patient with BWS be told that the recurrence risk is similar to the general population (1/13,700).

5 14 Beckwith Wiedemann Syndrome 231 Fig Schematic of the IGF2 imprinted locus. IGF2 and H19 are coordinately regulated by a shared set of enhancers. CDKN1Cand KvLQT1 are also coordinately regulated by a separate shared set of enhancers. Methylation of the H19 DMR silences H19 and activates IGF2. Methylation of KvDMR1 silences KCNQ1OT and activates CDKN1C 14.4 Cancer While historic studies reported a 7% prevalence of cancer in patients with BWS [9], more recent analyses suggest that approximately 12% of children with BWS develop cancer before 10 years of age [18]. Specifically, among children with BWS, the risk of developing cancer is age-related, with the highest risk occurring in children younger than 4 years of age. Cancer risk decreases dramatically after 4 years of age and by 10 years of age the risk approaches that of the general population [18]. The BWS Registry ( retrospectively followed 183 children with BWS who had no history of cancer for 482 person-years during the first 4 years of life [18]. During this time period (age 0 4), 13 children developed cancer (6 Wilms tumor, 5 hepatoblastoma, 2 neuroblastoma), corresponding to cancers per patient-year and a 10.8% risk of cancer during the first 4 years of life. This confers a risk 676 times greater than the baseline population risk. A group of children were also followed up to 10 years of age for a total of 204 patient-years. During this time period, one patient developed cancer, corresponding to cancers per patient-year and a 2.9% risk of cancer between 4 and 10 years of life. The two most common cancers in this group include Wilms tumor and hepatoblastoma [18]. Other cancers that occur with an increased frequency in this population include rhabdomyosarcoma, neuroblastoma, and adrenocortical carcinoma [9, 18, 19].

6 232 M. DeBaun and J. Horst The usefulness of cancer screening in children with BWS has been demonstrated in retrospective and anecdotal studies. With approximately 1 of 8 children with BWS developing cancer, the risk is high enough to warrant cancer screening in order to improve survival and/or decrease morbidity associated with cancer treatment. Both Wilms tumor and hepatoblastoma, the two most common cancers in BWS, meet the criteria for cancer screening. In the case of Wilms tumor, cure rates are over 90% for localized disease and more than 70% for advanced disease; however, the radiation and chemotherapy necessary to treat advanced stage WT can have significant, longterm consequences that impact the child s health. Choyke et al. demonstrated that abdominal ultrasonography at intervals of 4 months or less is effective at reducing the occurrence of late-stage WT; thus this cancer screening protocol is implemented to reduce treatment-related morbidity [20]. Ultrasonography is the optimal screening tool because it is noninvasive, widely available, relatively inexpensive, and does not involve radiation. There is no evidence that screening CT scans of the abdomen are superior to renal ultrasonography. In a cost-effectiveness analysis, McNeil and colleagues demonstrated that abdominal sonography in children with BWS is a reasonable cancer screening program [21]. Similar to Wilms tumor, hepatoblastoma can be identified by abdominal ultrasound; however, an abdominal ultrasound does not image the entire liver. Clericuzio et al. [22] published a case series of five patients with BWS who were identified with early-stage hepatoblastoma (stage 1). In all five cases, alpha-fetoprotein (AFP) levels were elevated in serial evaluations at 8 week intervals. The expected proportion was found in a series of 182 children with hepatoblastoma, where two thirds of the tumors were stage III or IV at presentation [23]. Early detection of hepatoblastoma is critical as stages I and II (91% 5-year event-free survival) have a much better prognosis compared with stages III and IV (64 and 25% 5-year event-free survival) [22]. Taken together, these studies provide a compelling rationale to use renal sonography to screen for Wilms tumor in an interval of 4 months or less and (AFP) to screen for hepatoblastoma at intervals of 6 12 weeks. Children with BWS are also at increased risk of developing adrenocortical carcinoma; however, screening for adrenocortical carcinoma does not meet the minimum requirements of cancer screening discussed by DeBaun et al. [24]. These authors describe five principles for cancer screening in children: (1) Early treatment or detection should result in a decreased mortality and morbidity, (2) Age-specific incidence should be high enough to warrant screening, (3) The population at risk should be easily identified, (4) The natural history of the cancer should be known, and (5) the screening test must be easy to administer, acceptable, and accessible to the target population [24]. The exact prevalence of ACC in BWS is poorly documented. In a survey of 388 children with BWS, Wiedemann reported five adrenocortical carcinomas [9]. Sotelo-Avila et al. reported four cases of ACC amongst a total number of 17 tumors (10 WT, 4 ACC, 1 hepatoblastoma, 1 glioblastoma, and 1 rhabdomyosarcoma) [19]. However, both of these studies enrolled patients on the basis of cancer referral; therefore, a referral bias exists. In contrast, the BWS Registry, where there is no referral bias, did not report any cases of ACC [18]. However, taken the close relationship between IH and BWS and the possibility that IH may

7 14 Beckwith Wiedemann Syndrome 233 represent a specific phenotype of the BWS spectrum, it is worthwhile mentioning that a prospective study of IH patients found two ACCs in 162 study subjects. Though the incidence of adrenocortical cancer may be low, the association can still be regarded highly specific, taken the rarity of this cancer in the overall population. Nevertheless, given the observation that the kidneys are screened for WT every 3 months until at least 4 years of age, visualization of the adrenals is prudent and therefore recommended. In the event that a mass is visualized, then appropriate referral to a tertiary care medical center with expertise in the management of cancer is warranted. References 1. Beckwith JB (1963) Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig cell hyperplasia another syndrome? Paper presented at annual meeting of the Western society for pediatric research, Los Angeles, Nov Wiedemann HR (September 1964) Familial malformation complex with umbilical hernia and macroglossia a new syndrome? (in French). J de génétique humaine 13: Beckwith JB (1998) Vignettes from the history of overgrowth and related syndromes. Am J Med Gen 79: Thorburn MJ et al (1970) Exomphalos-Macroglossia-Gigantism syndrome in Jamaican infants. Amer J Dis Child 119: DeBaun MR et al (2002) Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. American J Hum Genet 70(3): Elliott M et al (1994) Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin genet 46(2): Motokura T et al (1991) A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature 350: Gerber LH et al (2000) Joint laxity, scoliosis and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome. European J Pediatr 160(2): Wiedemann HR (1983) Tumors and hemihypertrophy associated Wiedemann-Beckwith syndrome. Eur J Pediatr 141: Irving IM (1967) Exomphalos with macroglossia: a study of eleven cases. J Pediatr Surg 2(6): Weksberg R et al (2010) Beckwith-Wiedemann Syndrome. Eur J Hum Genet 18: Hoyme HE et al (1998) Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 9: Martin RA et al (2005) Lit1 and H19 Methylation Defects in Isolated Hemihyperplasia. Am J of Med Genet 134A: Niemitz E et al (2005) Children with idiopathic hemihypertrophy and Beckwith-Wiedemann syndrome have different constitutional epigenotypes associated with Wilms tumor. Am J Hum Genet 77: Choyke PL et al (1998) Nonmalignant renal disease in pediatric patients with Beckwith- Wiedemann syndrome. AJR 1711: Weksberg R et al (2005) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137C(1): Wangler M et al (2005) Inheritance pattern of Beckwith Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet 137A: DeBaun M, Tucker MA (1998) Cancer during the first four years of life in children from the Beckwith Wiedemann Syndrome Registry. J Pediatr (132):

8 234 M. DeBaun and J. Horst 19. Sotelo-Avila F et al (1980) Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 96: Choyke PL et al (1999) Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 32: McNeil DE et al (2001) Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model. Med Ped Oncol 37: Clericuzio C et al (2003) Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann Syndrome or Isolated hemihyperplasia. J Pediatr 143: Ortega JA et al (2000) Randomized comparison of cisplatin/vincristine/fluorouracil and cisplatin/continuous infusion doxorubicin for treatment of pediatric hepatoblastoma: a report from the Children s Cancer Group and the Pediatric Oncology Group. J Clin Oncol 18: DeBaun M et al (1996) Screening for Wilms tumor in children with high-risk congenital syndromes: considerations for, an intervention trial. Med Pedia Oncol 27:15421

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