Bone Marrow Results - Chronic Myelogenous Leukemia?

[HockeySwimMom]

My question is could the following bone marrow results indicate anything other than Chronic Myelogenous Leukemia? Since a FiSH study was done and did not show the Philadelphia chromosone does that rule out CML? Should I request a PCR test to be sure? Following are the bone marrow results:
This is straight off the pathologists report:
DIAGNOSIS: LEFT POSTERIOR ILIAC CREST (B08-162-A, B08-162-B)

NORMOCELLULAR BONE MARROW (80%) WITH MYELOID AND MEGAKAROCYTIC HYPERPLASIA

RARE “SEA-BLUE” HISTIOCYTES – SEE COMMENT

NO LYMPHOID AGGREGATES, GRANULOMAS OR ORGANISMS SEEN

ABSENT IRON STORES – SEE COMMENT

COMMENTS: The findings of myeloid hyperplasia, small megakaryocytes, and sea-blue histiocytes raises the possibility of chronic myelogenous leukemia. Although rare in patients of this this age, testing for BCR/ABL has been requested and will be reporteed separately.

Sea-blue histiocytes can also be seen in storage diseases, mostly notably in Gaucher disease. If there is splenomegally, or other manifestations of storage disease then additional testing may be of benefit. However, as a findings, sea-blue histiocytes can be seen in the amrrow where there is high metabolic turn over. The marrow findings could be accounted for by aggressive steroid therapy (increased mature neutrophils, sea blue histiocytes). Clinical correlation is recommended.

The lack of iron stores could be correlated with serum studies of iron status.

The FISH study results:
Left Posterior Iliac Crest Bone Marrow B08-162: NOT DETECTED

Total number of cells counted: 200

% of cells showing dual fusion: 0.0%

Comment: There is no evidence for the BCR/ABL fusion associated with the translocation 9.22 (Philadelphia Chromosone) in the cells examined, using the BCR/ABL dual fusion probe system from Vysis, Inc.

Wonder if the abnormal bone marrow results can point to something else, and can I rule out CML because of the FISH study results?

[Dr. Safaa Mahmoud]

Hello,
CML is a disease characterized by:
1- Unexplained elevated WBC count, usually more than 25 × 109/L and more frequently > 100 ×109/L.
Other laboratory findings include high serum levels of vitamin B12 and transcobalamin and lactic dehydrogenase (LDH).

2- The bone marrow examination shows:
- a hypercellular marrow, with cellularity of 75%-90%,
- myeloid-to-erythroid ratio is usually 10-30:1.
- increase megakaryocytes which are smaller than the typical normal megakaryocytes may be seen in some early stages.
3- Philadelphia chromosome in CML represents a translocation between the long arms of chromosomes 9 and 22 and is found in almost all CML patients (a hallmark).

However, 5-10% 0f cases are Philadelphia negative, of them 40% can turn positive if studied with FISH/ or PCR techniques.

This small subset of patients who are found to be Philadelphia negative should be excluded for other disease like amyeloproliferative disorder MPD or myelodysplasia MDS.
Other clonal markers like certain types of JAK kinase mutations analysis would be helpful.

Sea-blue histiocytes are seen in diseases in which there is bone marrow hyperplasia and increased turn over, like CML, MPD, MDS, etc.

I would advise you to follow up with your hematologists.
Please keep us updated.
Best regards.

[HockeySwimMom]

The hematologist told us that he does not think it is CML because of the FISH study results. So he has sent us to an Infectious Disease Specialist at UCLA. Appointment not until Dec 8, so I am just curious if I need to seek another hematologists opinion on the possible CML, or wait to talk to the Infectious Disease Specialist. Just don't want things to progress poorly by waiting.

[Dr. Safaa Mahmoud]

Hello,
Thank you for updating us.

I agree with your doctor, it is not common to see a Philadelphia negative CML.
So, other causes should be excluded.

I would advise you to follow his advise and lets see what the infectious disease specialist would recommend.

Please keep us updated.
Best regards.