127 Digital droplet PCR assays for the detection of leukemia mutations in a xeroderma pigmentosum patient with mixed phenotype acute leukemia

Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by skin and ocular abnormalities with increased risk of melanoma and non-melanoma skin cancer. XP patients with defects in the nucleotide excision repair pathway genes (XP A-G) are hypersensitive to ultraviolet radiation from sunlight. We recently diagnosed an XP-C patient with mixed phenotype acute leukemia, a rare type of leukemia. Using whole exome and whole genome sequencing we identified more than 150 somatic mutations in the blast cells from the patient.

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: S.G. Khan, K.A. Oetjen, M. Lee, H. Yang, M.A. Levoska, D. Tamura, S. Ito, K.R. Calvo, D. Douglas, J.J. DiGiovanna, K.H. Kraemer Tags: Carcinogenesis and Cancer Genetics Source Type: research