Cerebral Gigantism Associated With Wilms' Tumor

Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex

“…WT has very rarely been reported in individuals with other genetic disorders, such as Simpson–Golabi–Behemel syndrome [Hughes‐Benzie et al, 1996], Li‐Fraumeni syndrome [Hartley et al, 1993; Birch et al 2001], hyperparathyroid‐jaw tumor [Kakinuma et al, 1994], neurofibromatosis [Stay and Vawter, 1997], Bloom syndrome [Cairney et al, 1987], Perlman syndrome [Perlman, 1986], Sotos syndrome [Maldonado et al, 1984], trisomy 18 [Geiser, 1973; Karayalcin et al, 1981], trisomy 13 [Olson et al, 1995], Turner syndrome [Say et al, 1971; Olson et al, 1995; Hasle et al, 1996; Spreafico et al, 2007], and Down syndrome [Kusumakumary et al, 1995; Spreafico et al, 2007], and the Frasier syndrome (OMIM #136680).…”

Tetrasomy 15q25.3 → qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors

“…One of the common clinical features of patients with tetrasomy of the distal segment of chromosome 15 is postnatal overgrowth. Review of the literature revealed a strong association between Wilms tumor and overgrowth syndromes, including Beckwith‐Wiedemann syndrome (BWS), Perlman syndrome, Sotos syndrome, and Simpson‐Golabi‐Behmel syndrome (SGBS) [Maldonado et al, 1984; Grundy et al, 1992; Xuan et al, 1999]. Studies have showed that insulin‐like growth factors (IGFs) may play an important role in patients with overgrowth syndrome and Wilms tumor.…”

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

“…a One case of hepatoblastoma Lapunzina, personal observation; not published. Cases reported by Sugarman et al, 1977;Seyedabadi et al, 1981;Maldonado et al, 1984;Nance et al, 1990;Cole et al, 1992;Hersh et al, 1992;Lippert, 1993;Corsello et al, 1996;Fabry et al, 1997;Le Marec et al, 1999;Muraishi et al, 1999;Yule, 1999;Leonard, 2000;Jin et al, 2002;Al-Mulla et al, 2004. There are at least 9 cases of SGBS with neoplasia; all tumors were intra-abdominal (4 Wilms tumors, 2 hepatoblastomas, 1 adrenal neuroblastoma, 1 gonadoblastoma and 1 hepatocellular carcinoma.…”

“…The total number of cases of SS is impossible to know because every experienced geneticist has probably seen several unpublished patients [Opitz et al, 1998]. An increased risk for tumors was initially calculated as 6%-7% [Maldonado et al, 1984;Wit et al, 1985]. Recent data suggest a figure of about 2%-3% [Hersh et al, 1992].…”