CorrespondenceHepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations
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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, GastroenterologyCitation 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 EndoscopyCitation 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.
Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome
2016, European Journal of Medical GeneticsPhenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome
2015, European Journal of CancerCitation 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].
Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management
2023, Journal of Pediatric Hematology/OncologyLiver transplantation for hepatic adenomatosis: The first case report in Thailand and literature review
2021, Journal of the Medical Association of Thailand
Conflicts of interest The authors disclose no conflicts.
Funding This study was supported by the Canadian Institute of Health Research Grant FRN-79845.