• M D Aydemirli
  • K van der Tuin
  • F J Hes
  • A M W van den Ouweland
  • T van Wezel
  • E Kapiteijn
  • H Morreau

We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early ages this thyroid cancer variant is highly suggestive for familial adenomatous polyposis (FAP), there was no family history of FAP. In the tumor biallelic, inactivating APC variants were identified. The patient tested negative for germline variants based on analysis of genomic DNA from peripheral blood leukocytes. Somatic mosaicism was excluded by subsequent deep sequencing of leukocyte and normal thyroid DNA using next generation sequencing (NGS). This report presents a rare sporadic case of CMV-PTC, and to the best of our knowledge the first featuring two somatic APC mutations underlying the disease, with an overview of CMV-PTC cases with detected APC and CTNNB1 pathogenic variants from the literature.

Original languageEnglish
Pages (from-to)15-21
Number of pages7
JournalFamilial Cancer
Issue number1
Early online date2019
Publication statusPublished - Jan 2020

    Research areas

  • APC, Cribriform-morular, Cribriform-morular variant papillary thyroid carcinoma, FAP, Familial adenomatous polyposis, Thyroid carcinoma, Wnt, β-catenin

ID: 48249624