Literature DB >> 22469941

Hepatoblastoma in a mosaic trisomy 18 patient.

Elaine Maria Pereira1, Robert Marion, K H Ramesh, Jane S Kim, Michelle Ewart, Rosanna Ricafort.   

Abstract

We report a case of hepatoblastoma in a 10-year-old girl with mosaic-type trisomy 18. A comprehensive literature review reveals only 2 cases involving mosaic trisomy 18 patients. Our patient underwent an abbreviated chemotherapy course before complete surgical resection. Her hepatoblastoma did not contain cells with trisomy 18. The conservative management approach resulted in a successful outcome; she remains disease free >2 years after surgery. Along with presenting a literature review, this report demonstrates a favorable outcome in a mosaic trisomy 18 child with hepatoblastoma where tumor cells lacked a trisomy 18 karyotype.

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Year:  2012        PMID: 22469941     DOI: 10.1097/MPH.0b013e3182459ee8

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN: 1077-4114            Impact factor:   1.289


  6 in total

1.  Congenital abnormalities and hepatoblastoma: a report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB).

Authors:  Rajkumar Venkatramani; Logan G Spector; Michael Georgieff; Gail Tomlinson; Mark Krailo; Marcio Malogolowkin; Wendy Kohlmann; Karen Curtin; Rachel K Fonstad; Joshua D Schiffman
Journal:  Am J Med Genet A       Date:  2014-06-16       Impact factor: 2.802

2.  Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy.

Authors:  Naveed Ahmad; Kate Wheeler; Helen Stewart; Carolyn Campbell
Journal:  BMJ Case Rep       Date:  2016-01-21

3.  Association of trisomy 18 with hepatoblastoma and its implications.

Authors:  Zhen Han Tan; Angeline Lai; Ching Kit Chen; Kenneth T E Chang; Ah Moy Tan
Journal:  Eur J Pediatr       Date:  2013-08-23       Impact factor: 3.183

Review 4.  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

5.  Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Authors:  Talita Aguiar; Anne Teixeira; Marília O Scliar; Juliana Sobral de Barros; Renan B Lemes; Silvia Souza; Giovanna Tolezano; Fernanda Santos; Israel Tojal; Monica Cypriano; Silvia Regina Caminada de Toledo; Eugênia Valadares; Raquel Borges Pinto; Osvaldo Afonso Pinto Artigalas; Joaquim Caetano de Aguirre Neto; Estela Novak; Lilian Maria Cristofani; Sofia M Miura Sugayama; Vicente Odone; Isabela Werneck Cunha; Cecilia Maria Lima da Costa; Carla Rosenberg; Ana Krepischi
Journal:  Front Genet       Date:  2022-04-12       Impact factor: 4.772

Review 6.  Hepatoblastoma in molecularly defined, congenital diseases.

Authors:  Gunther Nussbaumer; Martin Benesch
Journal:  Am J Med Genet A       Date:  2022-04-28       Impact factor: 2.578

  6 in total

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