Congenital abnormalities and clinical features associated with Wilms’ tumour: A comprehensive study from a centre serving a large population

Ng, A.; Griffiths, A.; Cole, Trevor; Davison, Val; Griffiths, Michael; Larkin, Samantha; Parkes, S. E.; Mann, J R; Grundy, R

doi:10.1016/j.ejca.2007.03.020

Cited by 18 publications

(13 citation statements)

References 27 publications

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“…These abnormalities are various: kidney abnormalities (form, position, kystic aspect), ectopic testis, hypospadias, or other genital abnormalities. In a previous study, the prevalence of all the genitourinary malformations was 5% in 156 children with WT .…”

Section: Introductionmentioning

confidence: 87%

Malformations, genetic abnormalities, and wilms tumor

Dumoucel

Gauthier‐Villars

Stoppa‐Lyonnet

et al. 2013

Pediatric Blood & Cancer

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Section: Introductionmentioning

confidence: 87%

Malformations, genetic abnormalities, and wilms tumor

Dumoucel

Gauthier‐Villars

Stoppa‐Lyonnet

et al. 2013

Pediatric Blood & Cancer

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“…The aforementioned report by Ng et al [26] is sobering as it highlights that clinicians with no specific training in recognizing these syndromes may fail to diagnose them or miss less florid presentations. Furthermore, it is possible that patients deemed as bearing "non-WT1" unilateral tumors in previous reports of renal function actually had a mild phenotype of other predisposing conditions, such as an overgrowth syndrome that was overlooked.…”

Section: Future Directionsmentioning

confidence: 94%

“…Similarly, novel molecular fingerprints defining patients at risk may be discovered. While performing a comprehensive thorough genetic assessment of prospective patients diagnosed with WT, Ng et al [26] outlined that 45% of cases could be linked to some known predisposing abnormality (e.g., mild hemihyperplasia) as opposed to 19% tracked through retrospective review of clinical notes. In other words, increased awareness as well as research and improvement in diagnostic tools will likely elevate the proportion of new WT cases recognized as predisposed.…”

Section: Wt In Patients With Predisposition Syndromesmentioning

confidence: 99%

Renal function in patients with Wilms tumor

Romao

Lorenzo

2016

Urologic Oncology: Seminars and Original Investigations

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“…Ochoa syndrome or urofacial syndrome (UFS) is a rare disorder characterized by dysfunctional urinary voiding, urinary tract infection, hydronephrosis, dysmorphic bladder, and dilatation of the ureter and pelvis [3][4][5]. Affected [1,2]. Elejalde reported this urofacial syndrome for the first time in 7 children and called the syndrome "Ochoa syndrome" [4].…”

Section: Wilms Tumor (Wt) Is the Most Common Form Of Renal Tumor In Cmentioning

confidence: 97%

“…It has been known that a number of different clinical conditions and chromosome abnormalities accompany Wilms tumor [1,2]. Ochoa syndrome or urofacial syndrome (UFS) is a rare disorder characterized by dysfunctional urinary voiding, urinary tract infection, hydronephrosis, dysmorphic bladder, and dilatation of the ureter and pelvis [3][4][5].…”

mentioning

confidence: 99%

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

Emir

Kan

Demir

et al. 2011

Pediatric Hematology and Oncology

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Wilms tumor (WT) is the most common form of renal tumor in childhood. It has been known that a number of different clinical conditions and chromosome abnormalities accompany Wilms tumor [1,2]. Ochoa syndrome or urofacial syndrome (UFS) is a rare disorder characterized by dysfunctional urinary voiding, urinary tract infection, hydronephrosis, dysmorphic bladder, and dilatation of the ureter and pelvis [3][4][5]. Affected children are characterized by distinctive facial expression when they smile.No data are currently available regarding the development of Wilms tumor in Ochoa syndrome. In this study, we present the development of a Wilms tumor in a child with Ochoa syndrome.A 6-year-old girl admitted to our oncology department with a suspicion of a malignancy. Her past medical history indicated a hospitalization when she was 4 years old with a urinary tract infection. The ultrasonography at that time revealed bilateral grade III hydronephrosis and thickened and trabeculated bladder, suggesting an obstructive uropathy. The diagnosis of Ochoa syndrome had been considered due to neurogenic bladder and urinary incontinence and the presence of an inverted facial expression as she smiles. Familiy history revealed that her parents were first cousins and the patient's 2-year-old sister has been also diagnosed with Ochoa syndrome. Physical examination showed a smooth surfaced mass at the size of about 15 × 10 cm at the upper left quadrant. Additionally, inverted facial expression with grimacing while smiling (Figure 1) was observed. The examination of the other systems and her laboratory analyses were normal. Chromosomal analysis showed that the patient had a normal karyotype. Molecular genetic analysis revealed the absence of HPSE2 mutation for Ochoa syndrome. Abdominal ultrasonography and tomography showed a vascular hyperechoic mass 13 × 8 cm in dimension with a heterogeneous capsule. The mass was originating from the central and upper portions of the left kidney and extended vertically to the spleen and the pelvic region and compressed the renal pelvis. She underwent left nephrectomy and mass excision. Pathology confirmed Wilms tumor with blastemal component. Due to lymph nodes involvement in renal hilus, the tumor was considered

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Congenital abnormalities and clinical features associated with Wilms’ tumour: A comprehensive study from a centre serving a large population

Cited by 18 publications

References 27 publications

Malformations, genetic abnormalities, and wilms tumor

Malformations, genetic abnormalities, and wilms tumor

Renal function in patients with Wilms tumor

Occurrence of Wilms Tumor in a Child with Urofacial (OCHOA) Syndrome

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