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Del(7q) Deletion

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

I first came across Cytocell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing Cytocell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time. As a matter of fact, at a recent conference there was a discussion about the lack of commercial probes for a particular disorder and I was happy to point the participants in the direction of the Cytocell catalogue, which contains the exact probes required. Elizabeth Benner, Medical Technologist at the University of Arizona Health Network

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.