Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista)

Type
Label
  • Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/ajmg.a.36191 (literal)
Alternative label
  • Cappuccio G.; De Crescenzo A.; Ciancia G.; Canta L.; Moio M.; Mataro I.; Varone V.; Pettinato G.; Palumbo O.; Carella M.; Riccio A.; Brunetti-Pierri N. (2014)
    Giant breast tumors in a patient with Beckwith-Wiedemann syndrome
    in American journal of medical genetics. Part A (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Cappuccio G.; De Crescenzo A.; Ciancia G.; Canta L.; Moio M.; Mataro I.; Varone V.; Pettinato G.; Palumbo O.; Carella M.; Riccio A.; Brunetti-Pierri N. (literal)
Pagina inizio
  • 182 (literal)
Pagina fine
  • 185 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84890797739&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 164 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1 (literal)
Note
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences, Technologies at the Second University of Naples, Naples, Italy; Department of Pathology, Federico II University, Naples, Italy; Department of Plastic Surgery, Federico II University, Naples, Italy; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy; Inst. of Genetics and Biophysics A. Buzzati-Traverso at the Consiglio Nazionale delle Ricerche (CNR), Naples, Italy; Telethon Institute of Genetics and Medicine, Naples, Italy (literal)
Titolo
  • Giant breast tumors in a patient with Beckwith-Wiedemann syndrome (literal)
Abstract
  • Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. We report on a patient with BWS that developed a giant fibroadenoma of the breast that was surgically removed. The tumor relapsed 8 months after the surgery and the patient underwent partial mastectomy. Although the patient presented several clinical features of BWS, a molecular diagnosis was not achieved despite extensive molecular investigations on both blood and tumor tissue. A SNP array revealed a de novo 7p22.1 loss in both blood and breast tumor involving the mismatch repair gene PMS2 gene that may be potentially associated with the breast tumor. In conclusion, it remains unclear whether BWS patients have an increased risk of breast lesions or a yet unknown molecular defect is responsible for the rare occurrence of this tumor in BWS. ¬© 2013 Wiley Periodicals, Inc. (literal)
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