Non‐chromosome 11‐p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case

Spreafico, Filippo; Terenziani, Monica; Lualdi, Elena; Scarfone, Paola; Collini, Paola; Fossati-Bellani, Franca; Galea, Eulalia; Vecchi, Giovanna De; Sardella, Michele; Sozzi, Gabriella; Radice, Paolo; Perotti, Daniela

doi:10.1002/ajmg.a.31480

Cited by 6 publications

(6 citation statements)

References 25 publications

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“…Contrary to expectations, large populationbased studies and a review of tumor registers showed that the incidence of WT is lower in trisomy 21 patients than in general population 8,9 . So far, several authors reported rare cases of WT appearing in the trisomy 21 10,11 , but to our knowledge, not bilateral WT. Below we present a case of this rare and clinically challenging coexistence of trisomy 21 and malignancy on both kidneys.…”

Section: Introductionmentioning

confidence: 74%

“…The occurrence of Wilms tumor in the population of trisomy 21 patients is a very rare phenomenon, and by reviewing literature we have found only two such reports 10,11 . The exact incidence of WT in this group of patients is still unknown, but how rare its' occurrence is, showed the research of authors from US, who analyzed the National Wilms Tumor Study Registers [12][13][14][15][16] .…”

Section: Discussionmentioning

confidence: 97%

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Coexistence of synchronous bilateral Wilms tumor and trisomy 21 – first report and review of literature

et al. 2018

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Aim: The bilateral form of the Wilms tumor appears only in 5% of cases, and the incidence in children under the age of 15 is about 1: 250,000. Contrary to the expectations, large population-based studies have shown that the incidence of Wilms tumor is much lower in the population with trisomy 21 than in the general population. To our knowledge, this is the first reported case of synchronous bilateral Wilms tumor appearing in a patient with trisomy 21. Case report: A 19-month-old male, previously known for trisomy 21, was admitted to hospital because of chronic constipation and abdominal pain. A month before the child started to cry and suffer pain during defecation. He had the last stool seven days before the examination. Abdominal palpation in the left hypochondriac region revealed a solid mass of about 6x6 cm in size. Ultrasound and Multislice Computed Tomography showed a tumor on both kidneys; the right was smaller, and the left was larger-destroying most of the parenchyma and causing the bowel obstruction. After 3 weeks of chemotherapy, the radical left nephrectomy and the partial right nephrectomy were made. 28-week chemotherapy continued postoperatively. Histopathology tests confirmed the diagnosis of Wilms tumor. After recovery, the patient had a sufficient renal function. Conclusion: The coventional treatment with a combination of chemotherapy and surgical resection showed a good long-term outcome. However, in these cases a special caution should be focused on the quantity of preserved renal tissue, because of an increased risk of renal failure.

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Section: Introductionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 97%

Coexistence of synchronous bilateral Wilms tumor and trisomy 21 – first report and review of literature

et al. 2018

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“…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).…”

Section: Discussionmentioning

confidence: 99%

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

Spreafico

Notarangelo

Schumacher

et al. 2011

American J of Med Genetics Pt A

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We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4934-4935delTT, leading to a p.F1645CfsX7, who developed a unilateral Wilms tumor (WT). Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild-type TSC2 allele, and loss of heterozygosity for the WT1 gene. Deletion of the WTX gene was also present, but it involved the functionally inactive X chromosome. No mutation affecting the remaining WT1 and WTX alleles, as well as the CTNNB1 gene was found. Pathological examination of the surgical specimen documented the presence of diffuse anaplasia and p53 immunoreactivity. To the best of our knowledge, this is the second report of a patient with tuberous sclerosis who developed a WT, and it represents the first case in which a detailed clinical and molecular description is provided.

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“…In fact, the rate of WT in individuals with Turner syndrome appears to be higher than would be predicted from the population incidence [127]. It is possible that the presence of a sole X-chromosome may enhance the possibility of a single hit knocking out the active WTX gene during development.…”

Section: Wtx (Xq111)mentioning

confidence: 98%

Candidate genes and potential targets for therapeutics in Wilms’ tumour

2010

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Wilms' tumour (WT) is the most common malignant renal tumour of childhood. During the past two decades or so, molecular studies carried out on biopsy specimens and tumour-derived cell lines have identified a multitude of chromosomal and epigenetic alterations in WT. In addition, a significant amount of evidence has been gathered to identify the genes and signalling pathways that play a defining role in its genesis, growth, survival and treatment responsiveness. As such, these molecules and mechanisms constitute potential targets for novel therapeutic strategies for refractory WT. In this report we aim to review some of the many candidate genes and intersecting pathways that underlie the complexities of WT biology.

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Non‐chromosome 11‐p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case

Cited by 6 publications

References 25 publications

Coexistence of synchronous bilateral Wilms tumor and trisomy 21 – first report and review of literature

Coexistence of synchronous bilateral Wilms tumor and trisomy 21 – first report and review of literature

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

Candidate genes and potential targets for therapeutics in Wilms’ tumour

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