Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report.
A somatic mutation of the human leukocyte antigen (HLA)-A gene revealed in tumour cells of acute myelogenous leukemia (AML) is described. A patient with AML and her siblings were routinely typed for HLA in order to find a suitable donor for haematopoietic stem cell transplantation. Sequencing-based typing of the initial patient's sample characterized by high proportion of blasts revealed unknown G/A exchange at position 781 of the HLA-A gene (exon 4) associated with HLA-A*02:01 allele. Importantly, this G781A variant was completely absent in the patient's remission sample obtained after the clearance of blasts. Our results are a reminder that HLA mutations in tumour cells may interfere with routine HLA typing and should always be considered, namely, in patients with haematological malignancies.
HLA laboratory, Department of Immunology, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
F
F
Mrazek
J
J
Onderkova
T
T
Szotkowski
N
N
Königova
Z
Z
Ambruzova
L
L
Raida
D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D015789:HLA-A2 Antigen / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006650:Histocompatibility Testing; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D014411:Neoplastic Stem Cells / Q000737:chemistry*; D017354:Point Mutation; D012074:Remission Induction; D035781:Siblings
C435939:HLA-A*02:01 antigen; D015789:HLA-A2 Antigen
human leukocyte antigen typing; major histocompatibility complex; new HLA allele; polymorphism; somatic mutation