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31 results on '"Molinatto, Cristina"'

5. Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

Author

Striano, Pasquale, Coppola, Antonietta, Paravidino, Roberta, Malacarne, Michela, Gimelli, Stefania, Robbiano, Angela, Traverso, Monica, Pezzella, Marianna, Belcastro, Vincenzo, Bianchi, Amedeo, Elia, Maurizio, Falace, Antonio, Gazzerro, Elisabetta, Ferlazzo, Edoardo, Freri, Elena, Galasso, Roberta, Gobbi, Giuseppe, Molinatto, Cristina, Cavani, Simona, Zuffardi, Orsetta, Striano, Salvatore, Ferrero, Giovanni Battista, Silengo, Margherita, Cavaliere, Maria Luigia, Benelli, Matteo, Magi, Alberto, Piccione, Maria, Dagna Bricarelli, Franca, Coviello, Domenico A., Fichera, Marco, Minetti, Carlo, and Zara, Federico

Published
2012
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6. Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Author

Gazzin, Andrea, Carli, Diana, Sirchia, Fabio, Molinatto, Cristina, Cardaropoli, Simona, Palumbo, Giuseppe, Zampino, Giuseppe, Ferrero, Giovanni Battista, Mussa, Alessandro, Zampino, Giuseppe (ORCID:0000-0003-3865-3253), Gazzin, Andrea, Carli, Diana, Sirchia, Fabio, Molinatto, Cristina, Cardaropoli, Simona, Palumbo, Giuseppe, Zampino, Giuseppe, Ferrero, Giovanni Battista, Mussa, Alessandro, and Zampino, Giuseppe (ORCID:0000-0003-3865-3253)

Abstract

ACKGROUND: Beckwith-Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood. METHODS: 34 patients (16 males), aged 18-58 years (mean 28.5) with BWS were enrolled. RESULTS: 26 patients were molecularly confirmed, 5 tested negative, and 3 were not tested. Final tall stature was present in 44%. Four patients developed Wilms' Tumor (2, 3, 5, and 10 years, respectively); one hepatoblastoma (22 years); one acute lymphoblastic leukemia (21 years); one adrenal adenoma and testicular Sertoli cell tumor (22 and 24 years, respectively); and three benign tumors (hepatic haemangioma, uterine myoma, and mammary fibroepithelioma). Surgery for BWS-related features was required in 85%. Despite surgical correction several patients presented morbidity and sequelae of BWS pediatric issues: pronunciation/swallow difficulties (n = 9) due to macroglossia, painful scoliosis (n = 4) consistent with lateralized overgrowth, recurrent urolithiasis (n = 4), azoospermia (n = 4) likely consequent to cryptorchidism, severe intellectual disability (n = 2) likely related to neonatal asphyxia and diabetes mellitus (n = 1) due to subtotal pancreatectomy for intractable hyperinsulinism. Four patients (two males) had healthy children (three physiologically conceived and one through assisted reproductive technology). CONCLUSIONS: Adult health conditions in BWS are mostly consequent to pediatric issues, underlying the preventive role of follow-up strategies in childhood. Malignancy rate observed in early adulthood in this small cohort matches that observed in the first decade of life, cumulatively raising tumor rate in BWS to 20% during the observation period. Further studies are warranted in this direction.

Published
2019

7. Cover Image, Volume 179A, Number 9, September 2019

Author

Gazzin, Andrea, primary, Carli, Diana, additional, Sirchia, Fabio, additional, Molinatto, Cristina, additional, Cardaropoli, Simona, additional, Palumbo, Giuseppe, additional, Zampino, Giuseppe, additional, Ferrero, Giovanni Battista, additional, and Mussa, Alessandro, additional

Published
2019
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9. Front Cover, Volume 40, Issue 6

Author

Carli, Diana, primary, Giorgio, Elisa, additional, Pantaleoni, Francesca, additional, Bruselles, Alessandro, additional, Barresi, Sabina, additional, Riberi, Evelise, additional, Licciardi, Francesco, additional, Gazzin, Andrea, additional, Baldassarre, Giuseppina, additional, Pizzi, Simone, additional, Niceta, Marcello, additional, Radio, Francesca C., additional, Molinatto, Cristina, additional, Montin, Davide, additional, Calvo, Pier L., additional, Ciolfi, Andrea, additional, Fleischer, Nicole, additional, Ferrero, Giovanni B., additional, Brusco, Alfredo, additional, and Tartaglia, Marco, additional

Published
2019
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10. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Author

Carli, Diana, primary, Giorgio, Elisa, additional, Pantaleoni, Francesca, additional, Bruselles, Alessandro, additional, Barresi, Sabina, additional, Riberi, Evelise, additional, Licciardi, Francesco, additional, Gazzin, Andrea, additional, Baldassarre, Giuseppina, additional, Pizzi, Simone, additional, Niceta, Marcello, additional, Radio, Francesca C., additional, Molinatto, Cristina, additional, Montin, Davide, additional, Calvo, Pier L., additional, Ciolfi, Andrea, additional, Fleischer, Nicole, additional, Ferrero, Giovanni B., additional, Brusco, Alfredo, additional, and Tartaglia, Marco, additional

Published
2019
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11. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Author

Faravelli Francesca, Pierluigi Mauro, Messa Jole, Molinatto Cristina, Biamino Elisa, Belligni Elga F, Zuffardi Orsetta, Ferrero Giovanni B, and Silengo Margherita

Subjects
Pediatrics, RJ1-570
Abstract

Abstract Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. Methods We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms. Results Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only. Conclusion We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.

Published
2009
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14. Cover Image, Volume 170A, Number 7, July 2016

Author

Giorgio, Elisa, primary, Ciolfi, Andrea, additional, Biamino, Elisa, additional, Caputo, Viviana, additional, Di Gregorio, Eleonora, additional, Belligni, Elga Fabia, additional, Calcia, Alessandro, additional, Gaidolfi, Elena, additional, Bruselles, Alessandro, additional, Mancini, Cecilia, additional, Cavalieri, Simona, additional, Molinatto, Cristina, additional, Cirillo Silengo, Margherita, additional, Ferrero, Giovanni Battista, additional, Tartaglia, Marco, additional, and Brusco, Alfredo, additional

Published
2016
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15. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

Author

Giorgio, Elisa, primary, Ciolfi, Andrea, additional, Biamino, Elisa, additional, Caputo, Viviana, additional, Di Gregorio, Eleonora, additional, Belligni, Elga Fabia, additional, Calcia, Alessandro, additional, Gaidolfi, Elena, additional, Bruselles, Alessandro, additional, Mancini, Cecilia, additional, Cavalieri, Simona, additional, Molinatto, Cristina, additional, Cirillo Silengo, Margherita, additional, Ferrero, Giovanni Battista, additional, Tartaglia, Marco, additional, and Brusco, Alfredo, additional

Published
2016
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18. Incidence of Beckwith-Wiedemann syndrome

Author

Molinatto, Cristina, Mussa, Alessandro, De Crescenzo, N, Chiesa, Nicoletta, Baldassarre, Giuseppina, Selicorni, A, Russo, S, Riccio, A, Cirillo, Margherita, and Ferrero, Giovanni Battista

Published
2012

22. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Author

Mussa, Alessandro, primary, Russo, Silvia, additional, De Crescenzo, Agostina, additional, Freschi, Andrea, additional, Calzari, Luciano, additional, Maitz, Silvia, additional, Macchiaiolo, Marina, additional, Molinatto, Cristina, additional, Baldassarre, Giuseppina, additional, Mariani, Milena, additional, Tarani, Luigi, additional, Bedeschi, Maria Francesca, additional, Milani, Donatella, additional, Melis, Daniela, additional, Bartuli, Andrea, additional, Cubellis, Maria Vittoria, additional, Selicorni, Angelo, additional, Cirillo Silengo, Margherita, additional, Larizza, Lidia, additional, Riccio, Andrea, additional, and Ferrero, Giovanni Battista, additional

Published
2015
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24. Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Author

Cirillo, Emilia, primary, Giardino, Giuliana, additional, Gallo, Vera, additional, Puliafito, Pamela, additional, Azzari, Chiara, additional, Bacchetta, Rosa, additional, Cardinale, Fabio, additional, Cicalese, Maria Pia, additional, Consolini, Rita, additional, Martino, Silvana, additional, Martire, Baldassarre, additional, Molinatto, Cristina, additional, Plebani, Alessandro, additional, Scarano, Gioacchino, additional, Soresina, Annarosa, additional, Cancrini, Caterina, additional, Rossi, Paolo, additional, Digilio, Maria Cristina, additional, and Pignata, Claudio, additional

Published
2014
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26. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Author

Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, and Ferrero, Giovanni Battista

Abstract

Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype–phenotype correlations in molecularly confirmed BWS patients. The characteristics of 318 BWS patients with proven molecular defect were compared among the main four molecular subclasses: IC2 loss of methylation (IC2-LoM, n=190), IC1 gain of methylation (IC1-GoM, n=31), chromosome 11p15 paternal uniparental disomy (UPD, n=87), and cyclin-dependent kinase inhibitor 1C gene (CDKN1C) variants (n=10). A characteristic growth pattern was found in each group; neonatal macrosomia was almost constant in IC1-GoM, postnatal overgrowth in IC2-LoM, and hemihyperplasia more common in UPD (P<0.001). Exomphalos was more common in IC2/CDKN1C patients (P<0.001). Renal defects were typical of UPD/IC1 patients, uretheral malformations of IC1-GoM cases (P<0.001). Ear anomalies and nevus flammeus were associated with IC2/CDKN1C genotype (P<0.001). Macroglossia was less common among UPD patients (P<0.001). Wilms’ tumor was associated with IC1-GoM or UPD and never observed in IC2-LoM patients (P<0.001). Hepatoblastoma occurred only in UPD cases. Cancer risk was lower in IC2/CDKN1C, intermediate in UPD, and very high in IC1 cases (P=0.009). In conclusion, (epi)genotype–phenotype correlations define four different phenotypic BWS profiles with some degree of clinical overlap. These observations impact clinical care allowing to move toward (epi) genotype-based follow-up and cancer screening.

Published
2016
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27. Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome.

Author

Peiretti, Valentina, Mussa, Alessandro, Feyles, Francesca, Tuli, Gerdi, Santanera, Arianna, Molinatto, Cristina, Ferrero, Giovanni Battista, and Corrias, Andrea

Subjects
COWDEN syndrome, INTESTINAL polyps, PTEN protein, THYROID cancer, AUTOIMMUNE thyroiditis, PATIENTS
Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTENj, and up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Here, we report two cases of BRRs at opposite ends of its phenotypic spectrum: clinical manifestations of the first patient were more severe, while the second one showed only few signs and had no family history of the disease. Both cases developed thyroid disorders detected by thyroid ultrasound screening. We believe that it is important for clinicians, specifically pediatric endocrinologists, to know that this syndrome can appear in very subtle ways and also to be aware that thyroid nodules and intestinal polyps seem to be its most frequently encountered features. [ABSTRACT FROM AUTHOR]

Published
2013
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28. a-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

Author

Mussa, Alessandro, Pagliardini, Severo, Pagliardini, Veronica, Molinatto, Cristina, Baldassarre, Giuseppina, Corrias, Andrea, Silengo, Margherita Cirillo, and Ferrero, Giovanni Battista

Abstract

Background:Beckwith–Wiedemann syndrome (BWS) and hemihyperplasia (HH) are overgrowth conditions with predisposition to hepatoblastoma for which early diagnosis patients undergo cancer screening based on determination of the tumor marker a-fetoprotein (aFP). Repeated blood draws are a burden for patients with consequent compliance issues and poor adherence to surveillance protocol. We sought to analyze feasibility and reliability of aFP dosage using an analytical micromethod based on blood dried on filter paper (DBS).Methods:Overall 143 coupled aFP determinations on plasma and DBS collected simultaneously were performed, of which 31 were in patients with hepatoblastoma predisposition syndromes and 112 were in controls. The plasma aFP dosage method was adapted to DBS adsorbed on paper matrix for newborn screening.Results:There was strong correlation between plasmatic and DBS aFP (r2= 0.999, P < 0.001). Cohen’s k coefficient for correlation was 0.96 for diagnostic cut-off of 10?U/ml (P < 0.001), commonly employed in clinical practice. The measurements on plasma and DBS were highly overlapping and consistent.Conclusion:The DBS method allowed to dose aFP reliably and consistently for the concentrations commonly employed in clinical settings for the screening of hepatoblastoma, opening new scenarios about conducting cancer screening in overgrowth syndromes.

Published
2014
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29. Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

Author

Andrea Riccio, Flavia Cerrato, Giovanni Battista Ferrero, Alessandro Mussa, Cristina Molinatto, Orazio Palumbo, Clementina Peris, Giuseppina Baldassarre, Massimo Carella, Diana Carli, Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, and Ferrero, Giovanni Battista

Subjects
0301 basic medicine, Infertility, Pediatrics, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, MEDLINE, Beckwith–Wiedemann syndrome, Risk Assessment, 03 medical and health sciences, Reproductive Techniques, 0302 clinical medicine, Retrospective Studie, Prevalence, medicine, Humans, Health risk, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Newborn, medicine.disease, 030104 developmental biology, Increased risk, Assisted, Relative risk, Pediatrics, Perinatology and Child Health, Risk assessment, business, Human
Abstract

BACKGROUND AND OBJECTIVES: The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility treatment and human procreation. We studied the prevalence of Beckwith-Wiedemann syndrome (BWS) in children conceived through ART to define the specific associated relative risk. METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the general demographic data and corresponding regional ART registry. RESULTS: Between 2005 and 2014, live births in Piemonte were 379 872, including 7884 from ART. Thirty-eight patients with BWS were born, 7 from ART and 31 naturally conceived. BWS birth prevalence in the ART group was significantly higher than that of the naturally conceived group (1:1126 vs 1:12 254, P < .001). The absolute live birth risk in the ART group was 887.9 per 1 000 000 vs 83.3 per 1 000 000 in the naturally conceived group, providing a relative risk of 10.7 (95% confidence interval 4.7–24.2). During the 1997–2014 period, 67 patients were diagnosed with BWS out of 663 834 newborns (1:9908 live births). Nine out of the 67 BWS patients were conceived through ART (13.4%), and 8 were molecularly tested, with 4 having an imprinting center 2 loss of methylation, 2 with 11p15.5 paternal uniparental disomy, and 2 negative results. CONCLUSIONS: ART entails a 10-fold increased risk of BWS and could be implicated in the pathogenesis of genomic events besides methylation anomalies. These data highlight the need for awareness of ART–associated health risk.

Published
2017
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30. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Author

Giuseppina Baldassarre, Luigi Tarani, Agostina De Crescenzo, Maria Vittoria Cubellis, Silvia Maitz, Maria Francesca Bedeschi, Margherita Silengo, Andrea Freschi, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Donatella Milani, Luciano Calzari, Andrea Riccio, Milena Mariani, Giovanni Battista Ferrero, Andrea Bartuli, Lidia Larizza, Daniela Melis, Angelo Selicorni, Alessandro Mussa, A., Mussa, S., Russo, A. D., Crescenzo, A., Freschi, L., Calzari, S., Maitz, M., Macchiaiolo, C., Molinatto, G., Baldassarre, M., Mariani, L., Tarani, M. F., Bedeschi, D., Milani, D., Meli, A., Bartuli, Cubellis, MARIA VITTORIA, A., Selicorni, M. C., Silengo, L., Larizza, A., Riccio, G. B., Ferrero, Mussa, Alessandro, Russo, Silvia, de Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, and Ferrero, Giovanni Battista

Subjects
Male, 0301 basic medicine, Hepatoblastoma, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Beckwith-Wiedemann Syndrome, Genotype, Beckwith–Wiedemann syndrome, genotype-phenotype correlation, 030105 genetics & heredity, Biology, Gastroenterology, Article, Chromosomes, Organomegaly, Genomic Imprinting, 03 medical and health sciences, paternal uniparental disonomy, assisted reproductive technology, Neoplasms, Internal medicine, Genetics, medicine, Macroglossia, Humans, Pair 11, Cyclin-Dependent Kinase Inhibitor p57, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 11, Cytogenetics, DNA Methylation, Female, Phenotype, medicine.disease, Chromosomal region, Nevus flammeus, medicine.symptom, Human
Abstract

Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype-phenotype correlations in molecularly confirmed BWS patients. The characteristics of 318 BWS patients with proven molecular defect were compared among the main four molecular subclasses: IC2 loss of methylation (IC2-LoM, n=190), IC1 gain of methylation (IC1-GoM, n=31), chromosome 11p15 paternal uniparental disomy (UPD, n=87), and cyclin-dependent kinase inhibitor 1C gene (CDKN1C) variants (n=10). A characteristic growth pattern was found in each group; neonatal macrosomia was almost constant in IC1-GoM, postnatal overgrowth in IC2-LoM, and hemihyperplasia more common in UPD (P

Published
2015
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31. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Author

Giuseppina Baldassarre, Alessandro Mussa, Andrea Riccio, Evelise Riberi, Cristina Molinatto, Lidia Larizza, Giovanni Battista Ferrero, Silvia Russo, Mussa, Alessandro, Molinatto, Cristina, Baldassarre, Giuseppina, Riberi, Evelise, Russo, Silvia, Larizza, Lidia, Riccio, Andrea, and Ferrero, Giovanni Battista

Subjects
0301 basic medicine, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, Hepatoblastoma, medicine.medical_specialty, Pathology, Beckwith-Wiedemann Syndrome, Genotype, Beckwith–Wiedemann syndrome, meta-analysi, 03 medical and health sciences, 0302 clinical medicine, Clinical Protocols, Risk Factors, Neoplasms, Internal medicine, Cancer screening, medicine, Humans, tumor screening, Child, Beckwith-Wiedemann, meta-analysis, molecular group and tumor risk, oncological surveillance, business.industry, Wilms' tumor, medicine.disease, Neuroblastic Tumor, 030104 developmental biology, 030220 oncology & carcinogenesis, Meta-analysis, Pediatrics, Perinatology and Child Health, business, Alpha-fetoprotein, Systematic Reviews as Topic
Abstract

Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene ( CDKN1C ) mutation. Study design Studies on BWS and tumor development published between 2000 and 2015 providing (epi)genotype-cancer correlations with histotype data were reviewed and meta-analysed with cancer histotypes as measured outcome and (epi)genotype as exposure. Results A total of 1370 patients with BWS were included: 102 developed neoplasms (7.4%). Tumor prevalence was 2.5% in ICR2-LoM, 13.8% in UPD, 22.8% in ICR1-GoM, and 8.6% in patients with CDKN1C mutations. Cancer ORs were 12.8 in ICR1-GoM, 6.5 in UPD, and 2.9 in patients with CDKN1C mutations compared with patients with ICR2-LoM. Wilms tumor was associated with ICR1-GoM (OR 68.3) and UPD (OR 13.2). UPD also was associated with hepatoblastoma (OR 5.2) and adrenal carcinoma (OR 7.0), and CDKN1C mutations with neuroblastic tumors (OR 7.2). Conclusion Cancer screening in BWS could be differentiated on the basis of (epi)genotype and target specific histotypes. Patients with ICR1-GoM and UPD should undergo renal ultrasonography scanning, given their risk of Wilms tumor. Alpha feto protein monitoring for heptaoblastoma is suggested in patients with UPD. Adrenal carcinoma may deserve screening in patients with UPD. Patients with CDKN1C mutations may deserve neuroblastoma screening based on urinary markers and ultrasonography scanning. Finally, screening appears questionable in cases of ICR2-LoM, given low tumor risk.

Published
2016
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