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Del(7q) Deletion

Applications
haematology
Catalogue Numbers
LPH 025 (10 tests)
LPH 025-S (5 tests)

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.

References

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

Microscope Images

Del 7q Deletion magnified
Area of Interest*
AML, MDS

Disclaimer

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.