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Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report.

Ruen YaoTingting YuYufei XuGuoqiang LiLei YinYunfang ZhouJian WangZhilong Yan
Published in: BMC medical genomics (2018)
Juvenile myelomonocytic leukemia in the patient was attributed to a somatic KRAS mutation, whereas the syndromic features of the patient were considered a consequence of germline chromosome 10q22.3-q23.2 deletion. Genetic testing for patients with complicated phenotypes can be valuable in detecting multiple pathogenic variants.
Keyphrases
  • copy number
  • case report
  • acute myeloid leukemia
  • dna repair
  • squamous cell carcinoma
  • oxidative stress
  • gene expression
  • dna damage
  • radiation therapy
  • autism spectrum disorder
  • rectal cancer