Literature DB >> 20503331

Kabuki syndrome and cancer in two patients.

Manuela Tumino1, Maria Licciardello, Giovanni Sorge, Maria Concetta Cutrupi, Fabrizio Di Benedetto, Loredana Amoroso, Roberta Catania, Monica Pennisi, Salvatore D'Amico, Andrea Di Cataldo.   

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. (c) 2010 Wiley-Liss, Inc.

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Year:  2010        PMID： 20503331     DOI： 10.1002/ajmg.a.33405

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  10 in total

1.  Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization.

Authors:  Hiroyuki Kato; Kaori Asamitsu; Wendi Sun; Shojiro Kitajima; Naoko Yoshizawa-Sugata; Takashi Okamoto; Hisao Masai; Lorenz Poellinger
Journal:  Oncogene       Date:  2020-02-18       Impact factor: 9.867

2.  Loss of KDM6A Activates Super-Enhancers to Induce Gender-Specific Squamous-like Pancreatic Cancer and Confers Sensitivity to BET Inhibitors.

Authors:  Jaclyn Andricovich; Stephanie Perkail; Yan Kai; Nicole Casasanta; Weiqun Peng; Alexandros Tzatsos
Journal:  Cancer Cell       Date:  2018-03-12       Impact factor: 31.743

3.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Authors:  Damien Lederer; Bernard Grisart; Maria Cristina Digilio; Valérie Benoit; Marianne Crespin; Sophie Claire Ghariani; Isabelle Maystadt; Bruno Dallapiccola; Christine Verellen-Dumoulin
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

4.  Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Authors:  Sietse M Aukema; Selina Glaser; Mari F C M van den Hout; Sonja Dahlum; Marinus J Blok; Morten Hillmer; Julia Kolarova; Raf Sciot; Dina A Schott; Reiner Siebert; Constance T R M Stumpel
Journal:  Fam Cancer       Date:  2022-07-19       Impact factor: 2.446

5.  Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Authors:  Chong Kun Cheon; Young Bae Sohn; Jung Min Ko; Yeoun Joo Lee; Ji Sun Song; Jea Woo Moon; Bo Kyoung Yang; Il Soo Ha; Eun Jung Bae; Hyun-Seok Jin; Seon-Yong Jeong
Journal:  J Hum Genet       Date:  2014-04-17       Impact factor: 3.172

Review 6.  The H3K27me3 demethylase UTX in normal development and disease.

Authors:  Joni Van der Meulen; Frank Speleman; Pieter Van Vlierberghe
Journal:  Epigenetics       Date:  2014-02-21       Impact factor: 4.528

Review 7.  Hepatoblastoma in an 11-year-old: Case report and a review of the literature.

Authors:  Irina B Pateva; Rachel A Egler; Duncan S Stearns
Journal:  Medicine (Baltimore)       Date:  2017-01       Impact factor: 1.889

8.  Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation.

Authors:  Leander D Timothy; Heidi D Lehrke; Vishal S Chandan; Amy B Kolbe; Katryn N Furuya
Journal:  Case Rep Pediatr       Date:  2019-04-24

9.  Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Authors:  Davide Roma; Paolo Palma; Rossella Capolino; Lorenzo Figà-Talamanca; Francesca Diomedi-Camassei; Francesca Romana Lepri; Maria Cristina Digilio; Carlo Efisio Marras; Raffaella Messina; Andrea Carai; Franco Randi; Angela Mastronuzzi
Journal:  BMC Med Genet       Date:  2015-09-05       Impact factor: 2.103

Review 10.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096
  10 in total

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