Interpreting Cytogenetic Results:
 

Recently diagnosed with MDS. Trying to learn how to interpret my own cytogenetic test results. Specifically, how does the discovery of del(9) fit into the WPSS/IPSS/FAB prognostic scoring systems?

---------- lab results -----------

Cells Counted: 20 \ Cells Analyzed: 20

CYTOGENETIC RESULT: 47, XY, del(9) (q12q34) [5] / 46,XY [15]

INTERPRETATION: MDS RELATED CLONE DETECTED

Five of 20 GTG banded metaphases examined demonstrated an interstitial deletion of the long arm of chromosome 9 which is in to copies. This clonal anomaly has been associated with MDS, subgroup non-specific AML or occasionally myeloproliferative desease. The presence of an extra copy of the deleted chromosome in rarely reported.

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Can anyone reliably answer this question or steer me toward a resource that addresses del(9)?

The Atlas of Genetics and Cytogenetics in Oncology and Haematology categorizes abnormalities of each chromosome. The abnormalities of chromosome 9 include del(9q) solely, which is seen in MDS. While your test results indicated deletion of the chromosome 9 (not just the long arm or "q" portion), you might find some relevant information in the references cited at the bottom of that page.

When I was first diagnosed with MDS, I used this site to try to figure out the impact of my trisomy 15 and where I fit into the various classifications of MDS. Basically, I learned that I had a random abnormality that was not identified as having a particular prognosis. You may be in a similar situations with your del(9).

Hope this helps.

Ruth Cuadra