Frequent somatic mutations of KMT2D (MLL2) and CARD11 genes in primary cold agglutinin disease.
- Resource Type
- Article
- Authors
- Małecka, Agnieszka; Trøen, Gunhild; Tierens, Anne; Østlie, Ingunn; Małecki, Jędrzej; Randen, Ulla; Wang, Junbai; Berentsen, Sigbjørn; Tjønnfjord, Geir E.; Delabie, Jan M. A.
- Source
- British Journal of Haematology. Dec2018, Vol. 183 Issue 5, p838-842. 5p. 1 Diagram, 1 Chart.
- Subject
- *COLD agglutinin syndrome
*LYMPHOPROLIFERATIVE disorders
*BONE marrow diseases
*B cells
*GENETIC mutation
- Language
- ISSN
- 0007-1048
The article presents a study which determined the molecular changes in primary cold agglutinin disease (CAD)-associated lymphoproliferative disease of bone marrow that may be used in disease diagnosis or targeted treatment. Also cited are the studies showing that CAD patients have unique low-grade clonal B-cell lymphoproliferative disease, and the use of exome sequencing to determine the recurrent somatic mutations of KMT2D and CARD11 genes.