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Case 299 - Discussion

Hematopathology Case

 

FINAL DIAGNOSIS:

Bone marrow; aspirate smear, clot section and core biopsy:

- Atypical chronic myeloid leukemia (aCML)

- Markedly hypercellular marrow (95%) with active trilineage hematopoiesis

- No increase in blasts

- Moderate to marked increase in iron stores

- Mild and focal reticulin fibrosis

 

Peripheral blood:

- Moderate microcytic anemia

- Marked absolute neutrophilia with dysplasia

 

Flow cytometry, marrow aspirate:

- No increase in immature myeloid precursors or blasts

 

Cytogenetic studies, marrow aspirate:

- Normal male karyotype: 46,XY [20]

 

FISH studies, marrow aspirate:

- Normal chromosomal sequences of 5p15.2, 5q31, 7, 8, and 20q12

- Negative for rearrangements of AML1/ETO, BCR/ABL, MLL, and CBFB

 

Molecular Studies:

- Positive for CSF3R T618I gene mutation

 

ANCILLARY STUDIES:

Results - Paraffin Immunohistochemistry (Core Biopsy):

 

CD3                            Scattered and small clusters of cells positive, 3% of marrow cells

CD20                          Scattered and small clusters of cells positive, 3% of marrow cells

CD34                          Rare cells positive, 1% of marrow cells

CD117                        Rare myeloid cells positive, 1% of marrow cells 

CD138                        Scattered and perivascular cells positive, 3% of marrow cells

           

Interpretation: Paraffin immunohistochemical studies show no abnormal lymphoid, blastic or plasma cell population in the marrow.

 

Results - Special Stains:

           

Iron (Aspirate smear)                 4+-5+ of 6

Reticulin (Core biopsy)               0-1+ of 3

 

Interpretation: Moderate to marked increase in iron stores is noted with no increase in ring sideroblasts. Mild and focal reticulin fibrosis is present.

 

Clinical here for discussion of aCML and CNL