A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26680. Epub 2017 Jul 8.

Abstract

Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter. Identification of DICER1 mutation carriers and close surveillance of individuals at risk for DICER1 syndrome may allow early detection and hence better outcome.

Keywords: DICER1; acute transient hepatitis; monozygotic twins; pleuropulmonary blastoma.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Child, Preschool
  • DEAD-box RNA Helicases / genetics*
  • Female
  • Hepatitis / genetics*
  • Humans
  • Mutation*
  • Pulmonary Blastoma / genetics*
  • Ribonuclease III / genetics*
  • Twins, Monozygotic / genetics*

Substances

  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases

Supplementary concepts

  • Pleuropulmonary blastoma