Abnormalities of chromosome 7 are very common in myeloid malignancies, such as adult and paediatric MDS and treatment related AML/MDS.
In children, it is often associated with juvenile Chronic Myeloid Leukaemia (jCML)1,2,3,4. There is also a predominance in leukaemias associated with a constitutional predisposition, caused by disorders including neurofibromatosis 1 (NF1), Fanconi Anaemia and possibly Down syndrome, which produces a distinct clinical picture known as Monosomy 7 syndrome. Another rearrangement, -5/del(5q), is found as an additional abnormality in 40-60% of secondary MDS cases. +8 is less frequently seen4.
Studies of myeloid disorders involving -7/del(7q) have found that signaling pathways involving RAS proteins are affected. There are two commonly deleted regions (CDR): one at 7q22, the other at 7q31-342,3,5,6,7. RELN (7q22) encodes a large secreted protein related to extracellular matrix proteins, a family of proteins that contains multiple epidermal growth factor (EGF)-like proteins.
1. Heim and Mittelman, Willey-Liss, Inc. 1995
2. Emerling BM et al., Oncogene 2002;21:4849-54
3. Kratz CP et al., Genomics 2001;77(3):171-80
4. Desangles F, -7/del(7q) in adults. Atlas Genet Cytogenet Oncol Haematol 1999
5. Le Beau MM et al., Blood 1996;88(6):1930-5
6. Fischer K et al., Blood 1997;89(6):2036-41
7. Koike M et al., Leukemia Res 1999;23:307-10
- Area of Interest*
- AML, MDS
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.