Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

Maria Piccione, Delfine Lafon, Dominique Martin-Coignard, Bertrand Isidor, Sylvie Rossignol, Annaig Briand, Elodie Lacaze, Olivier Delattre, Caroline Kannengiesser, Cédric Le Caignec, Franck Bourdeaut, Nicolas Sévenet, Ghislaine Plessis, Cécile Jeanpierre, Albert David, Olivier Pichon

Risultato della ricerca: Article

19 Citazioni (Scopus)

Abstract

Nephroblastoma (Wilms’ tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalitiespredisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith–Wiedemann, Simpson–Golabi–Behmel and Perlmansyndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report threeunrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowthsyndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene.Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by arraycomparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients withovergrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findingsstrongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have arole in the pathogenesis of nephroblastomas.
Lingua originaleEnglish
pagine (da-a)784-787
Numero di pagine4
RivistaEUROPEAN JOURNAL OF HUMAN GENETICS
Volumeahead of print
Stato di pubblicazionePublished - 2012

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Wilms Tumor
Nucleic Acid Hybridization
Kidney
Nonsense Codon
Methylation
Neoplasms
9q22.3 Microdeletion
Mutation
DNA
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cita questo

Piccione, M., Lafon, D., Martin-Coignard, D., Isidor, B., Rossignol, S., Briand, A., ... Pichon, O. (2012). Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. EUROPEAN JOURNAL OF HUMAN GENETICS, ahead of print, 784-787.

Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. / Piccione, Maria; Lafon, Delfine; Martin-Coignard, Dominique; Isidor, Bertrand; Rossignol, Sylvie; Briand, Annaig; Lacaze, Elodie; Delattre, Olivier; Kannengiesser, Caroline; Le Caignec, Cédric; Bourdeaut, Franck; Sévenet, Nicolas; Plessis, Ghislaine; Jeanpierre, Cécile; David, Albert; Pichon, Olivier.

In: EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. ahead of print, 2012, pag. 784-787.

Risultato della ricerca: Article

Piccione, M, Lafon, D, Martin-Coignard, D, Isidor, B, Rossignol, S, Briand, A, Lacaze, E, Delattre, O, Kannengiesser, C, Le Caignec, C, Bourdeaut, F, Sévenet, N, Plessis, G, Jeanpierre, C, David, A & Pichon, O 2012, 'Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas', EUROPEAN JOURNAL OF HUMAN GENETICS, vol. ahead of print, pagg. 784-787.
Piccione M, Lafon D, Martin-Coignard D, Isidor B, Rossignol S, Briand A e altri. Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;ahead of print:784-787.
Piccione, Maria ; Lafon, Delfine ; Martin-Coignard, Dominique ; Isidor, Bertrand ; Rossignol, Sylvie ; Briand, Annaig ; Lacaze, Elodie ; Delattre, Olivier ; Kannengiesser, Caroline ; Le Caignec, Cédric ; Bourdeaut, Franck ; Sévenet, Nicolas ; Plessis, Ghislaine ; Jeanpierre, Cécile ; David, Albert ; Pichon, Olivier. / Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. In: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012 ; Vol. ahead of print. pagg. 784-787.
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abstract = "Nephroblastoma (Wilms’ tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalitiespredisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith–Wiedemann, Simpson–Golabi–Behmel and Perlmansyndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report threeunrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowthsyndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene.Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by arraycomparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients withovergrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findingsstrongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have arole in the pathogenesis of nephroblastomas.",
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T1 - Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

AU - Piccione, Maria

AU - Lafon, Delfine

AU - Martin-Coignard, Dominique

AU - Isidor, Bertrand

AU - Rossignol, Sylvie

AU - Briand, Annaig

AU - Lacaze, Elodie

AU - Delattre, Olivier

AU - Kannengiesser, Caroline

AU - Le Caignec, Cédric

AU - Bourdeaut, Franck

AU - Sévenet, Nicolas

AU - Plessis, Ghislaine

AU - Jeanpierre, Cécile

AU - David, Albert

AU - Pichon, Olivier

PY - 2012

Y1 - 2012

N2 - Nephroblastoma (Wilms’ tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalitiespredisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith–Wiedemann, Simpson–Golabi–Behmel and Perlmansyndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report threeunrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowthsyndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene.Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by arraycomparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients withovergrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findingsstrongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have arole in the pathogenesis of nephroblastomas.

AB - Nephroblastoma (Wilms’ tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalitiespredisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith–Wiedemann, Simpson–Golabi–Behmel and Perlmansyndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report threeunrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowthsyndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene.Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by arraycomparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients withovergrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findingsstrongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have arole in the pathogenesis of nephroblastomas.

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M3 - Article

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JO - EUROPEAN JOURNAL OF HUMAN GENETICS

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