[JoMac53]

So I had an initial consult at RWJ with the transplant team doctor.

He apparantly went on to do additional testing on the slides from my most recent bone marrow biopsy from about a month before because I had not had any mutations reported before and my regular onco doc wasn't aware of these results until I showed him the report myself.

Here is the report:

Pathology Consult Report
Microscopic Description Bone marrow aspirate differential count is performed on the touch prep slide.

Neutrophils/precursors 39%,
lymphocytes 8%,
monocytes 21%,
blasts 5%,
plasma cells 2%,
eosinophils 2%,
erythroids 22%.

Erythropoiesis shows dysplasia.
Granulopoiesis is predominantly left sifted.
Monocytic lineage is expanded and appears mature.
Seven percent myeloblasts are noted.
On core biopsy stainable iron stores are present.
No reticulin fibrosis is seen.
Cytogenetic analysis shows a normal female karyotype.
Flow cytometry analysis identifies 5% myeloblasts with expanded monocytic gate (26%).

Myeloid molecular profile identifies mutations in
ASXL1,
EZH2 (DOUBLE),
PTPN11,
RUNX1,
STAG2
TET2 GENES.
The presence of these mutations is suggestive of an abnormal neoplastic clone.

NOTE: Correlate with peripheral monocytic counts to evaluate for chronic myelomonocytic leukemia.

Final Pathologic Diagnosis: MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS 1.

COMMENTS: Hypercellular marrow (80% cellularity) with multilineage dysplasia and dysplastic megakaryocytes. Approximately 5% myeloblasts are detected on CD34 stains. Flow cytometry study identifies approximately 5% myeloblasts and increased numbers of monocytic lineage cells. These cells co-express CD14 and CD64 and are CD56 negative and show no aberrant loss of myeloid antigens. Cytogenetic analysis shows a normal female karyotype. Clot section shows hypercellular marrow particles with left shift and scattered dysplastic megakaryocytes.

So the diagnosis hasn't changed but I have to dig out my first bmb report from a year ago to compare the results. I think the cellularity has increased and there was nothing about mutations, antigens, chronic myelomonocytic leukemia, monocytic gate, and I have to ask the doc about stainable iron stores, from the same biopsy the original report says there aren't any but the consult reports says there are, so I'm not clear on that.

Anyone know anything off the top of their heads about these mutations or anything else in the report? I'm off to research it all but sometimes it's easier if someone here already knows what's what.

Thanks.
Joanne