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BWS is an overgrowth disorder present at birth, characterized by an increased risk of childhood cancer. Five common features of BWS are macroglossia (large tongue), macrosomia (birth weight and length >90th percentile), midline abdominal wall defect, ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth). BWS has been shown to specifically involve problems with a defined region on the short arm of chromosome 11 referred to as 11p15. Genes located on this chromosome with altered expression associated with BWS are IGF-II, H19, and p57. These genes are important in fetal growth and development by controlling cell division in the cell cycle. Additionally, even after extensive molecular testing, the specific defect causing BWS in an affected individual may remain unknown. In about 1/3 of BWS patients, the genetic or epigenetic mutation is unknown. This fact demonstrates why BWS remains a clinical diagnosis because physicians cannot identify and test for all the genetic causes of BWS. Most BWS cases are sporadic, meaning that no one else in the family has BWS and parents of an affected child are not at an increased risk of having other children with BWS. About 15% of cases are familial, meaning that someone else in the family may also have BWS, and the parents of an affected child may have an increased risk of having other children with the syndrome. The most common cancers associated with BWS are Wilms tumor and hepatoblastoma (Libe, Fratticci et al. 2007; Ribeiro, Pinto et al. 2010). Children with BWS are also at an increased risk of ACT, neuroblastoma, and rhabdomyosarcoma. Only 1% of pediatric ACT is found in patients with BWS (Ribeiro, Pinto et al. 2010).
LFS is a rare autosomal dominant condition characterized by a familial clustering of cancer cases with an early onset and a predominance of sarcomas, breast cancers, brain tumors, acute leukemia, and ACT. Individuals with LFS are at an increased risk for several different types of cancers during childhood, adolescence, or adulthood. Cancers associated with LFS appear at a young age and several times throughout the life of an affected person. Classic LFS is defined by a proband with a sarcoma diagnosed before the age 45 years and a first-degree relative with any cancer before age 45 years, and a first- or second-degree relative with any cancer before age 45 years or a sarcoma at any age (Li, Fraumeni et al. 1988). LFL shares some, but not all of the features listed for LFS and includes individuals with any childhood cancer or sarcoma, brain tumor, or adrenocortical carcinoma diagnosed before age 45 years, and a first- or second-degree relative with a typical LFS cancer (sarcoma, breast cancer, brain tumor, adrenocortical carcinoma, or leukemia) at any age, and a first- or second- degree relative with any cancer before age 60 years (Birch, Hartley et al. 1994). Diagnosis of LFS or LFL is confirmed by the presence of a germline mutation in TP53. LFS is caused by inheriting a TP53 mutation. Individuals only need to inherit one TP53 mutated allele to develop LFS. The inheritance pattern is demonstrated by a sample family tree of a family affected by LFS. Individuals with LFS should receive regular check-ups and cancer screening tests earlier than standard recommendations indicate. The MD Anderson Cancer Center at the University of Texas has published screening guidelines for people with LFS.
Only 4% of all tumors in LFS are pediatric ACT (Petitjean, Mathe et al. 2007; Ribeiro, Pinto et al. 2010); however, about 15% of children with ACT are from LFS families (Ribeiro, Pinto et al. 2010).
Congenital hemihypertrophy is associated with asymmetric growth of one whole side or a part of the body. It has been associated with benign and malignant neoplasias, including ACT. This disorder is sometimes associated with BWS. About 20% of tumors in hemihypertrophy are ACTs (Ballock, Wiesner et al. 1997; Ribeiro, Pinto et al. 2010).
FAP is an autosomal dominant condition associated with the development of hundreds to thousands of polyps in the rectum and colon during early adulthood. Adrenocortical tumors have been reported in a very small percentage of cases, in which ACT has been observed in patients as young as 14 and as old as 70 (Bisgaard, Fenger et al. 1994; Ribeiro, Pinto et al. 2010).
CNC is an inherited autosomal dominant disorder that presents with cardiac and epidermal myxomas, spotty pigmentation, and endocrine overactivity. These patients may present with Cushing syndrome or multiple endocrine gland involvement. Cushing syndrome in CNC is caused by primary pigmented nodular adrenocortical disease characterized by small pigmented micronodules in the adrenal cortex (Carney, Gordon et al. 1985; Ribeiro, Pinto et al. 2010).
MEN1 is a rare autosomal dominant syndrome characterized by tumors involving multiple endocrine glands (Trump, Farren et al. 1996; Marx, Spiegel et al. 1998; Brandi, Gagel et al. 2001).