Gastroenterology

Gastroenterology

Volume 140, Issue 2, February 2011, Pages 735-736
Gastroenterology

Correspondence
Hepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations

https://doi.org/10.1053/j.gastro.2010.11.051Get rights and content

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There are more references available in the full text version of this article.

Cited by (16)

  • Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

    2017, Gastroenterology
    Citation Excerpt :

    The age of onset of urinalysis is recommended at 10 and 20 years by The International BMMRD Consortium and The European Consortium, respectively.15,18 Hepatic adenomas were reported in 3 unrelated patients with BMMRD.44 Awareness of the association of hepatic adenoma with BMMRD is important so that benign adenomas are not misdiagnosed as metastatic disease, resulting in inappropriate interventions, including surgery or chemotherapy.

  • Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer

    2017, Gastrointestinal Endoscopy
    Citation Excerpt :

    The age of onset of urinalysis is recommended at 10 and 20 years by The International BMMRD Consortium and The European Consortium, respectively.15,18 Hepatic adenomas were reported in 3 unrelated patients with BMMRD.44 Awareness of the association of hepatic adenoma with BMMRD is important so that benign adenomas are not misdiagnosed as metastatic disease, resulting in inappropriate interventions, including surgery or chemotherapy.

  • Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome

    2015, European Journal of Cancer
    Citation Excerpt :

    Data gathered from the consortium and other case series expand the tumour spectrum of BMMR-D, to include tumours of embryonal tissue origin such as neuroblastoma, Wilms tumour and rhabdomyosarcoma [19]. Hepatic adenomas have been described in patients with BMMR-D. Sporadic hepatic adenomas are caused by somatic HNF1A mutations, and were identified in three unrelated children with BMMR-D [20]. Hamilton reported a three centimetre hepatic adenoma found at autopsy in one of the original Turcot siblings who had a history of brain tumour, colorectal cancer and café-au-lait macules [3].

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Conflicts of interest The authors disclose no conflicts.

Funding This study was supported by the Canadian Institute of Health Research Grant FRN-79845.

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