Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

被引：33

作者：

Romanelli, Valeria ^{[1
,2
]}

Nevado, Julian ^{[1
,2
]}

Fraga, Mario ^{[3
]}

Martin Trujillo, Alex ^{[4
]}

Angeles Mori, Maria ^{[1
,2
]}

Fernandez, Luis ^{[1
,2
]}

Perez de Nanclares, Guiomar ^{[5
,6
]}

Martinez-Glez, Victor ^{[1
,2
]}

Pita, Guillermo ^{[7
]}

Meneses, Heloisa ^{[1
,2
,8
]}

Gracia, Ricardo ^{[9
]}

Garcia-Minaur, Sixto ^{[1
,2
]}

Garcia de Miguel, Purificacion ^{[10
]}

Lecumberri, Beatriz ^{[11
]}

Ignacio Rodriguez, Jose ^{[12
]}

Gonzalez Neira, Anna ^{[7
]}

Monk, David ^{[4
]}

Lapunzina, Pablo ^{[1
,2
,13
]}

机构：

[1] Univ Autonoma Madrid, IDIPAZ Hosp Univ La Paz, Inst Genet Med & Mol, INGEMM, Madrid 28046, Spain

[2] ISCIII, Ctr Invest Biomed Red Enfermedades Raras U753, CIBERER, Madrid, Spain

[3] Univ Autonoma Madrid, Ctr Nacl Biotecnol CNB CSIC, Madrid 28046, Spain

[4] Hosp Duran & Reynals, Inst Invest Biomed Bellvitge IDIBELL, PEBC, Barcelona, Spain

[5] Hosp Txagorritxu, Unidad Invest, Genet Mol Lab, Vitoria, Spain

[6] ISCIII, Ctr Invest Biomed Red Enfermedades Raras U725A, CIBERER, Madrid, Spain

[7] Ctr Nacl Invest Oncol, CNIO, Madrid, Spain

[8] Univ Fed Rio de Janeiro, Dept Genet, BR-21941 Rio De Janeiro, Brazil

[9] Univ Autonoma Madrid, Hosp Univ La Paz, Serv Endocrinol Infantil, IDIPAZ, Madrid 28046, Spain

[10] Univ Autonoma Madrid, Hosp Univ La Paz, Serv Oncol Pediat, Madrid 28046, Spain

[11] Univ Autonoma Madrid, Hosp Univ La Paz, Serv Endocrinol, Madrid 28046, Spain

[12] Univ Autonoma Madrid, Hosp Univ La Paz, Dept Anat Patol, Madrid 28046, Spain

[13] Registro Espanol Sindromes Sobrecrecimiento, RESSC, Madrid, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2011年 / 48卷 / 03期

关键词：

PLACENTAL MESENCHYMAL DYSPLASIA; BECKWITH-WIEDEMANN-SYNDROME; ANDROGENETIC/BIPARENTAL MOSAICISM; WILMS-TUMOR; ABNORMALITIES; CHIMERISM; PHENOTYPE;

D O I：

10.1136/jmg.2010.081919

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contribution in somatic cells is due to high-degree (similar to 85%) genome-wide paternal uniparental disomy (UPD). The observations indicate that the genome-wide UPD results from diploidisation, and have important implications for genetic counselling and tumour surveillance for the growing number of UPD associated imprinting disorders.

引用

页码：212 / 216

页数：5

共 24 条

[1]

Beckwith JB, 1963, W SOC PEDIAT RES

[2]

BRYKE CR, 2004, EVOLUTION COMPLEX PH

[3] Cancer Genes Hypermethylated in Human Embryonic Stem Cells [J].

Calvanese, Vincenzo ;

Horrillo, Angelica ;

Hmadcha, Abdelkrim ;

Suarez-Alvarez, Beatriz ;

Fernandez, Agustin F. ;

Lara, Ester ;

Casado, Sara ;

Menendez, Pablo ;

Bueno, Clara ;

Garcia-Castro, Javier ;

Rubio, Ruth ;

Lapunzina, Pablo ;

Alaminos, Miguel ;

Borghese, Lodovica ;

Terstegge, Stefanie ;

Harrison, Neil J. ;

Moore, Harry D. ;

Bruestle, Oliver ;

Lopez-Larrea, Carlos ;

Andrews, Peter W. ;

Soria, Bernat ;

Esteller, Manel ;

Fraga, Mario F. .

PLOS ONE, 2008, 3 (09)

[4] Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome [J].

Cooper, WN ;

Luharia, A ;

Evans, GA ;

Raza, H ;

Haire, AC ;

Grundy, R ;

Bowdin, SC ;

Riccio, A ;

Sebastio, G ;

Bliek, J ;

Schofield, PN ;

Reik, W ;

Macdonald, F ;

Maher, ER .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (09) :1025-1032

[5] Congenital hyperinsulinism and mosaic abnormalities of the ploidy [J].

Giurgea, I ;

Sanlaville, D ;

Fournet, JC ;

Sempoux, C ;

Bellanné-Chantelot, C ;

Touati, G ;

Hubert, L ;

Groos, MS ;

Brunelle, F ;

Rahier, J ;

Henquin, JC ;

Dunne, MJ ;

Jaubert, F ;

Robert, JJ ;

Nihoul-Fékété, C ;

Vekemans, M ;

Junien, C ;

de Lonlay, P .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) :248-254

[6] Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning [J].

Golubovsky, MD .

HUMAN REPRODUCTION, 2003, 18 (02) :236-242

[7] UNIPARENTAL PATERNAL DISOMY IN A GENETIC CANCER-PREDISPOSING SYNDROME [J].

HENRY, I ;

BONAITIPELLIE, C ;

CHEHENSSE, V ;

BELDJORD, C ;

SCHWARTZ, C ;

UTERMANN, G ;

JUNIEN, C .

NATURE, 1991, 351 (6328) :665-667

[8]

HOBAN PR, 1995, HUM GENET, V95, P651

[9] Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia [J].

Kaiser-Rogers, KA ;

McFadden, DE ;

Livasy, CA ;

Dansereau, J ;

Jiang, R ;

Knops, JF ;

Lefebvre, L ;

Rao, KW ;

Robinson, WP .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (02) :187-192

[10] Complex and segmental uniparental disomy updated [J].

Kotzot, D. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (09) :545-556

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