Inconclusive Diagnosis of a Lymphoid Neoplasm

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Figure 1.
Atypical lymphocytes in patient’s peripheral blood. (A, B) Reactive appearing lymphocytes. (C, D) Lymphocytes with cytoplasmic extensions.
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Figure 2.
Patient’s karyotype: 48,XY,−6,+7,t(9;22)(p24;q11.2),+12,add(14)(q24),+r[3]/45,X,−Y[8]/46,XY[9]. (A) Cytogenetic analysis revealed three of 20 metaphase cells with loss of one copy of chromosome 6, a gain of a copy of chromosomes 7 and 12, a reciprocal translocation involving the short arm of chromosome 9 and the long arm of chromosome 22, additional material of unknown origin on the long arm of chromosome 14, and gain of an unidentifiable ring chromosome. (B) Eight cells showed loss of the Y chromosome. (C) Remaining cells were apparently normal.

Table 1.

Patient’s pertinent laboratory results

Anisocytosis (1+), 1+ polychromasia, platelets appear decreased.

Atypical lymphocytes noted.

Table 2.

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.