PMC5288506_01
Patient 1. (a) Photograph of the physical features of the patient with low-set ears, lower palpebral fissures, hypertelorism, broad nasal bridge, thick lips, and thin hair. (b) Abdominal ultrasound showing the presence of a solid mass paravesical displacing the left ovary and bladder without infiltrate surrounding structures. (c) Initial MRI showing a hyperintense tumor predominantly heterogeneous intensity on T2-weighted sequence compressing the bladder. ((d) and (e)) MRI on T1-weighted sequences after 3 cycles of chemotherapy with slight decrease in left paravesical oval mass. (f) Operative image indicating the presence of tumor originating in the left medial UL.
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However, HRAS mutation analysis demonstrated a common recurrent mutation (p.G12S), confirming the diagnosis of CS in this child at the age of 7 months (Figure 1(a)). The ovaries were not involved (Figure 1(b)). The mass caused compression and displacement of the bladder to the right side (Figure 1(c)). Tumor markers were as follows: beta-subunit of human chorionic gonadotropin (beta-hCG) < 2 mUI/mL (normal < 6.0), alpha-fetoprotein (alphaFP) 2.9 ng/mL (normal < 8.0), carcinoembryonic antigen (CEA) 0.8 ng/mL (normal < 5.0), CA-15.3 19.7 UI/mL (normal < 32.0), CA-19.9 43.7 UI/mL (normal < 37.0), and neuron specific enolase (NSE) 27.86 ng/mL (normal 0-16.0). Thoracic computed tomography (CT) and scintigraphy showed no evidence of metastasis. Preoperative MRI showed a slight decrease in tumor size (3.2 x 3 x 2.5 cms) (Figures 1(d) and 1(e)). At the definitive surgery a 5 cm tumor dependent of the remaining left umbilical artery (left medial UL), located slightly to the left and displacing the bladder dome, was found (Figure 1(f)).
PMC5288506_02
Patient 2. (a) Photograph of the physical features of the patient with prominent forehead, low-set ears, lower palpebral fissures, hypertelorism, broad nasal bridge, thick lips, and anteverted slightly nostrils. (b) Initial abdominal ultrasound showing the presence of a tubular image caliber of 5.6 mm extending in the theoretical location of the right umbilical artery. ((c) and (d)) Follow-up abdominal ultrasound in the midline showing a multilobulated hypoechoic solid tumor with marked hypervascularization, extending from the proximity of the abdominal wall to the right supravesical region. (e) MRI onT2-weighted sequence confirms the presence of several nodular masses grouped with thickening of both medial umbilical folds, the right to 4 mm proximal to the umbilicus and 8 mm adjacent to the iliac vessels paravesical region portion. (f) Operative image indicating the presence of tumor originating in the right medial UL.
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HRAS Sanger sequencing detected the common c.34G>A (p.G12S) mutation confirming the diagnosis of CS (Figure 2(a)). As part of the follow-up the recommended tumor screening protocol was arranged and at the age of 3 years she underwent an abdominal ultrasound that showed a tubular image running through the theoretical place of the umbilical arteries, with a larger caliber on the right side of 5.6 mm, and associated echoes inside without Doppler flow (Figure 2(b)). A new abdominal ultrasound 9 months later reported the presence of a hypoechoic multilobulated solid tumor (5.3 x 2.8 cm) in the midline extending to the right in supravesical region with marked hypervascularization and extending cranially to the vicinity of the abdominal wall (Figures 2(c) and 2(d)). MRI showed a solid abdominal tumor (6 x 5.5 x 3 cm) composed of nodular masses grouped in the UL region with involvement of the medial umbilical folds that were thickened throughout the iliac vessels region (Figure 2(e)). She underwent a complete tumor resection (Figure 2(f)).