Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports.

ABSTRACT:

Rationale

Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully elucidated in the context of neurofibromatosis.

Patient concerns

In this article, we reported identical germline mutation of CHEK2 gene (p.R180C) in a 7-year-old Tibetan boy with NF1, and in a 12-year-old Chinese girl with NF2.

Diagnoses

Neurofibromatosis 1 and 2 with CHECK2 gene germline mutation.

Interventions

Both patients underwent operation to obtain tumor tissue, and peripheral blood of their family was tested.

Outcomes

Identical germline mutation of CHEK2 gene (p.R180C) was detected in both patients, and germline mutations of POLE, MUTYH and ATR were also detected.

Lessons

This is the first article to describe CHEK2 mutation in both NF1 and NF2. This article highlights a possible role of CHEK2, in association with other germline genetic mutations, in tumorigenesis of NF1 and NF2.

SUBMITTER: Li Q 

PROVIDER: S-EPMC5999503 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature