questions about bmb results

[mom23]

My son's last bmb showed only 8 metaphase cells of poor quality, and one of those cells showed a translocation. How common is this?
Also, on the report is says The myeloid line has nuclear-cytoplasmic asynchrony in immature and intermediate forms but mature forms are without dysplasia. The erythroid line exhibits megaloblastic change. Megakaryocytes are present and include rare monoblate forms. Scattered macrophages contain phagocytized nucleated cells and debris. Iron stain is negative for stored iron and ringed sideroblasts.
Hem is thinking possibly doing another bmb in 6 months to see if there are any changes.
Anyone who knows more about this stuff?

[Ruth Cuadra]

Your son's results include many of the standard phrases that bone marrow failure patients typically see in their BMB reports. Here's an attempt to restate these sentences with a little less medical jargon:

8 metaphase cells of poor quality, and one of those cells showed a translocation

During the middle phase of cell division called the "metaphase", chromosomes align along the middle of the cell. In the analysis of metaphase chromosomes, they are looking for numerical and structural changes (too few or too many chromosomes or translocations). The particular changes that are identified can help confirm a diagnosis.

The myeloid line has nuclear-cytoplasmic asynchrony in immature and intermediate forms but mature forms are without dysplasia.

Nuclear-cytoplasmic asynchrony means that there is an imbalance between the development of white blood cell precursors (immature and intermediate forms) and the surrounding cytoplasm. However, when the white cells do mature they are properly shaped (without dysplasia) and would likely function correctly.

The erythroid line exhibits megaloblastic change.

The bone marrow contains many large immature and dysfunctional red blood cells and red cell precursors.

Megakaryocytes are present and include rare monoblate forms.

Megakaryocytes are the precursors of platelets. I don't know what "monoblate" means, but it likely refers to an abnormality of the megakaryocytes.

Scattered macrophages contain phagocytized nucleated cells and debris.

Macrophages are a type of white blood cell that protect the body by eating up foreign particles and dead or dying cells in the body. This sentence seems to describe the normal presence of macrophages.

Iron stain is negative for stored iron and ringed sideroblasts.

Increased iron stores and ringed sideroblasts (red cell precursor cells with excess iron that appears in rings within the cell) can indicate MDS. The fact that these are both negative is a good thing.

It seems to me that the combination of translocated chromosomes and abnormalities in red cell, white cell, and platelet precursors would lead to a diagnosis of MDS. If your son is not symptomatic or managing with infrequent transfusions, then waiting and watching for 6 more months may be reasonable. However, you should consider asking for a second opinion from a doctor with experience treating pediatric bone marrow diseases. Treatment centers in the U.S. are listed on our Medical Resources page.

Hope this helps.

Ruth