While the majority of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) cases are sporadic, rare familial MDS-AML cases have also been identified and reported in literature. Inherited mutations in the GATA2, TERC, TERT, CEBPA and RUNX1 genes have been shown to be associated with familial MDS-AML (for review see e.g. Holme H et al. 2013, Br J Haematol. 158:242-8). Although most of the germline aberrations of these genes are point mutations, deletions have been described as well e.g. in GATA2 and RUNX1 genes (Béri-Dexheimer M et al. 2008, Eur J Hum Genet. 16:1014-8; Hsu AP et al. 2011, Blood. 118:2653-5). The most recurrent GATA2 mutations identified in MonoMAC patients are R398W (1192C>T) and T354M (1061C>T) (Hsu AP et al. 2011, Blood. 118:2653-5).
This P437-A1 Familial MDS-AML probemix contains in total 42 probes for detection of the copy number aberrations in the following genes: GATA2 (at 3q21.3), TERC (at 3q26.2), TERT (at 5p15.33), CEBPA (at 19q13.11) and RUNX1 (at 21q22.12), which are suggested to be of diagnostic relevance in Familial MDS-AML. Furthermore, this probemix also contains two mutation-specific probes for the GATA2 (1061C>T and 1192C>T) point mutations. In addition, 13 reference probes have been included in this probemix, detecting 13 different autosomal chromosomal locations, which are relatively stable in MDS and AML patient samples.