Flow cytometry and molecular testing
| Test | Result | Consider |
|---|---|---|
| CBC and differential | Pancytopenia, lymphocytosis, atypical lymphocytes. | Reactive lymphocytosis, leukemia, lymphoma. |
| Bone marrow biopsy, microscopic | Replacement of normal bone marrow with reticulin and collagen fibers. Possible blast cells. | Leukemia, lymphoma. |
| Immunophenotyping | 0.3% blasts (NR = 0%–5%). Decreased neutrophils with no significant marker abnormalities. Monocytes, eosinophils/basophils normal in number and markers. T lymphocytes immunophenotypically normal, increased in number. CD4:CD8 = 1.3 (NR = 2.0). NK lymphocytes normal in numbers and markers. Clonal B-cell population immunophenotyped as CD45+, CD19+, CD20+, CD5−, CD10−, CD23−, FMC7+, CD38−, CD11c+, CD103−, HLA DR+, and sIg kappa+. | Neoplastic process. B-cell neoplasia, specific subtype undetermined. T-cell lymphoproliferative disorder. |
| Karyotyping | Monosomy 6, trisomy 7, and trisomy 12. Reciprocal translocation of the short arm of chromosome 9 and the long arm of chromosome 2. Additional material of unknown origin on 14q. An unidentifiable ring chromosome. Eight of 20 cells, −Y. | Neoplastic process, B-/T-cell lymphoproliferative disorder. |
| FISH | BCL1 (t(11;14), BCL2 (t(14;18), and MALT1 rearrangements all normal (negative). | Rule out MCL, FL, MALT. |
| T-cell receptor (TRG and TRB) gene rearrangement | TRG V1-8, 9 + J1/2 TRG alternate V + J1/2 not detected. TRB V + J1/2 not detected. TRB V _ J2 not detected. TRB D + J1/2 detected. | Pathology not likely a T-cell malignancy. |