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Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

Maria Apellaniz-Ruiz1, Maria Segni1, Matthias Kettwig1

  • 1From the Departments of Human Genetics (M.A.-R., M.K.W., W.D.F.), Pharmacology (D.P.), Oncology (M.R.F., W.D.F.), and Biochemistry (M.R.F.), and the Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (M.A.-R., D.P., N.S., M.K.W., M.R.F., W.D.F.), McGill University, the Department of Pathology, Montreal Children's Hospital (V.-H.N.), the Department of Radiology (K.M.), and the Cancer Research Program, Research Institute (W.D.F.), McGill University Health Centre, and the Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine (D.B.-D.S.) - all in Montreal; the Department of Pediatrics, Endocrinology Unit, Sapienza University, Rome (M.S.), and Centro Diagnostico Italiano, Milan (S.Z.) - both in Italy; the Department of Pediatrics and Adolescent Medicine, Faculty of Medicine (M.K.), and the Institute for Diagnostic and Interventional Radiology, Faculty of Medicine (J.M.), Georg-August University, Göttingen, the Department of Pediatric Surgery, St. Bernward Krankenhaus Hildesheim, Hildesheim (S.G.), and the Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm (R.W., C.L., R.S.) - all in Germany; and Minneapolis (J.R.P.).

The New England Journal of Medicine
|May 9, 2019
PubMed

Insights

Mesenchymal hamartoma of the liver (MHL) in children can be caused by DICER1 gene mutations. These mutations mimic chromosome 19 alterations, suggesting MHL is a new phenotype of DICER1 syndrome.

Area of Science:

  • Pediatric Oncology
  • Molecular Genetics
  • Developmental Biology

Background:

  • Mesenchymal hamartoma of the liver (MHL) is a benign pediatric liver tumor.
  • Recurrent chromosomal alterations at 19q13, activating the C19MC microRNA cluster, are known causes of MHL.
  • Some MHL cases lack these known genetic alterations.

Observation:

  • Two pediatric MHL cases with germline DICER1 pathogenic variants were identified.
  • Tumor tissue analysis in one case revealed biallelic DICER1 inactivation ('two hits').

Findings:

  • DICER1 mutations dysregulate microRNA processing and biogenesis.
  • This dysregulation mimics the molecular effects of C19MC activation seen in other MHL cases.
  • The findings link DICER1 mutations to a distinct molecular pathway in MHL pathogenesis.

Implications:

  • MHL may represent a novel clinical phenotype within the spectrum of DICER1-related disorders.
  • This discovery expands the understanding of genetic causes for pediatric liver tumors.
  • Identifying DICER1 as a causative gene opens avenues for potential targeted therapies and improved diagnostics.

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