Cellularity doubled in two years with hyperchromasia and lymphoid aggregates?

[rich7]

Anyone go from hypocellular (20-30%) marrow with 5q deletion and dysplasia to mildly hypercellular (50%) along with moderately increased megakaryocytes that show atypia including hypolobation, focal hyperchromasia and few small forms as well as lymphoid aggregates and leukopenia.

Still waiting on solid diagnosis 4 plus years later. I have severe chronic fatigue and a great deal of pruritus. Family history of lymphoma, lung cancer and skin cancer.

Notch1, Fancd2 and 5q deletion have been found. 5q not found on recent marrow taken at different provider so this seems odd.

Any advice or insight please help!

Rich

[Neil Cuadra]

Rich,

It must be royally frustrating not having a definite diagnosis and these changing test results!

There can be variations from lab to lab in CBCs and other tests, but it seems unlikely that a lab wouldn't correctly identify the generic abnormalities present. I think it's more likely that the 5q deletion really wasn't present in this sample. Cytogenetic results can differ because your cells are changing, as Matthew42 mentioned in your other thread, but results can also differ because of the particular sample they got during the biopsy and aspiration. Did they tell you anything about their ability to get a good sample? If your bone marrow was too "dry" to get a good sample, they may not have seen 5q- in the sample even though it's still present in your other cells.

Family history isn't normally an issue with diseases like MDS, but with symptoms like pruritus you may have a combination of illnesses (or having side effects of any treatment you are receiving).

I hope you have physicians you have confidence in. Why were you tested by a different provider? Are you getting second opinions, or switching providers?

[rich7]

Neil,

Thank you for replying. My first marrow was done at Mount Sinai in New York. I have since moved and my provider uses a different lab to analyze the samples. Also, no issues with getting a good sample either.

Rich

[rich7]

As an update, I got some answers. Oncologist was originally thinking aplastic anemia but I have always had signs of MDS and polycythemia. After 4 years it?s been decided that it is the early stages of MDS. He advised that he feels I could have MDS/MPN overlap syndrome or this will morph into the overlap syndrome over the next 5-10 yrs.

So for now, I have to deal with the fatigue, bleeding and bruising easily, constant pruritus, etc. while on watch and wait.

Anyone who has a similar situation I would like to hear your thoughts or advice.

Thank you all for your support.

Rich