Kabuki syndrome and cancer in two patients

Manuela Tumino; Maria Licciardello; Giovanni Sorge; Maria Concetta Cutrupi; Fabrizio Di Benedetto; Loredana Amoroso; Roberta Catania; Monica Pennisi; Salvatore D'Amico; Andrea Di Cataldo

doi:10.1002/ajmg.a.33405

Kabuki syndrome and cancer in two patients

Manuela Tumino, Maria Licciardello, Giovanni Sorge, Maria Concetta Cutrupi, Fabrizio Di Benedetto, Loredana Amoroso, Roberta Catania, Monica Pennisi, Salvatore D'Amico, Andrea Di Cataldo

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.

Original language	English
Pages (from-to)	1536-1539
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	152
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.33405
Publication status	Published - Jun 2010

Keywords

Alpha fetoprotein
Hepatoblastoma
Kabuki syndrome
Neuroblastoma

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1002/ajmg.a.33405

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AU - Tumino, Manuela

AU - Licciardello, Maria

AU - Sorge, Giovanni

AU - Cutrupi, Maria Concetta

AU - Di Benedetto, Fabrizio

AU - Amoroso, Loredana

AU - Catania, Roberta

AU - Pennisi, Monica

AU - D'Amico, Salvatore

AU - Di Cataldo, Andrea

PY - 2010/6

Y1 - 2010/6

N2 - Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.

AB - Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.

KW - Alpha fetoprotein

KW - Hepatoblastoma

KW - Kabuki syndrome

KW - Neuroblastoma

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Kabuki syndrome and cancer in two patients

Abstract

Keywords

ASJC Scopus subject areas

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